Achondroplasia

What is achondroplasia?
Achondroplasia is a bone disorder affecting about one in every 10,000 infants. It is caused by a
mutation in the FGFR3 gene that impairs the growth of bone in the limbs and causes abnormal
growth in the spine and skull.
Approximately 20-50% of all children with achondroplasia will experience a neurological
impairment. This is caused by compression created as they literally grow faster than their bones.
The stunted bone growth at the base of the skull and the spine can cause the spinal cord and brain
stem to become compressed. This can lead to key nervous system structures like the brain
stem, spinal cord, spinal nerve roots and cerebrospinal fluid (CSF) spaces to also compress.
Eventually, this may lead to neurological deficits like:
Cervico-medullary Myelopathy: Compression at the foramen magnum the bony hole at the
base of the skull through which the brainstem and spinal cord exit the skull can cause a childs
brainstem to kink. This can cause a child to have:

very brisk reflexes

numbness

weakness

difficulty walking

loss of bowel and bladder control

sleep apnea periods during sleep when the child stops breathing.

Brainstem compression can ultimately lead to death if it is left untreated, so parents and
physicians of achondroplastic children should watch for the symptoms outlined above.
Hydrocephalus: When the narrowing near the base of the spine prevents cerebrospinal fluid
(CSF) from flowing freely around the brainstem or in and out of the skull, the CSF collects in
ventricles (spaces in the childs brain). The resulting condition is hydrocephalus. In babies, the
most evident symptom of hydrocephalus is a quickly enlarging head circumference. Additional
symptoms include:

headaches

irritability

lethargy

vomiting

Because an enlarged head is normal in achondroplastic children, pediatricians can use a special
head circumference growth chart to distinguish between normal achondroplastic growth and
possible hydrocephalus.
Spinal Cord Myelopathy: Sometimes, the vertebrae of achondroplastic children do not grow
enough to allow sufficient space for nerves exiting and entering the spinal cord to pass in and out
of the bony spinal column. If only a single nerve root is compressed, a child may experience
pain, numbness or weakness in a specific arm or leg. They may seem to prefer using one hand
over another very early as babies, or complain of pain in their back or affected arm. In more
severe cases, the entire spinal cord can be compressed, causing weakness and numbness in the
entire body below the spinal cord pinch as well as loss of bowel and bladder control.

Symptoms of achondroplasia
The following are the most common symptoms of achondroplasia. However, each child may
experience symptoms differently. Symptoms may include:

shortened arms and legs, with the upper arms and thighs more shortened than the
forearms and lower legs

large head size with prominent forehead and a flattened nasal bridge

crowded or misaligned teeth

curved lower spine a condition also called lordosis (or "sway-back") which may lead to
kyphosis, or the development of a small hump near the shoulders that usually goes away
after the child begins walking.

small vertebral canals (back bones) may lead to spinal cord compression in
adolescence. Occasionally children with achondroplasia may die suddenly in infancy or
early childhood in their sleep due to compression of the upper end of the spinal cord,
which interferes with breathing.

bowed lower legs

flat feet that are short and broad

extra space between the middle and ring fingers (Also called a trident hand.)

poor muscle tone and loose joints

frequent middle ear infections which may lead to hearing loss

normal intelligence

delayed developmental milestones such as walking (which may occur between 18 to 24

months instead of around one year of age)

The symptoms of achondroplasia may resemble other problems or medical conditions. Always
consult your child's physician for a diagnosis.

Achondroplasia can be diagnosed before

birth by fetal ultrasound.

How is achondroplasia diagnosed?

Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete
medical history and physical examination. DNA testing is now available before birth to confirm
fetal ultrasound findings for parents who are at increased risk for having a child with
achondroplasia.
If your child has been diagnosed with achondroplasia, you should be looking carefully for signs
of muscle weakness, changes in bowel or bladder function, asymmetrical reflexes or respiratory
problems like sleep apnea. If any of these symptoms occur, youll want to obtain a thorough
work-up of your child by consulting a pediatric neurologist, pediatric neurosurgeon or pediatric
orthopedist, along with magnetic resonance imaging (MRI) of the childs head, neck or spine.

Treatment for achondroplasia

If a dangerously compressed region of the foramen magnum or spinal column is found, a surgeon
can remove bone and ligaments from the problem area to make more room for neural structures.
The structural integrity of the neck and spinal column are not compromised in these procedures
and patients tend to do very well. Because children are continuing to grow, they may require

additional decompressions. Surgical decompression is most successful when performed quickly

because symptoms allowed to progress for months or years can become permanent.
An achondroplastic child who has developed hydrocephalus may require a ventriculo-peritoneal
shunt. In this case, a pediatric neurosurgeon can relieve the accumulation of CSF in the childs
ventricles by placing a long, thin tube under the skin. One end is placed in the childs ventricle
and the other in his or her abdomen. CSF is allowed to flow at a controlled pace out of the childs
head into his or her abdomen, where it can be quickly and safely absorbed into the bloodstream.
When symptoms are identified and acted upon in a timely manner, modern medical and surgical
care allows achondroplastic children to grow up with intellectual and social capacities equal to
that of other children.

Acoustic Neuroma (Vestibular Schwannoma)

What is an acoustic neuroma?
An acoustic neuroma is a rare, usually slow-growing tumor of the inner ear, specifically of the
nerve that connects the ear to the brain (the hearing nerve). Despite usually being benign, an
acoustic neuroma that grows and is not treated can severely affect neurological function and
become life-threatening.
An acoustic neuroma is also called vestibular schwannoma, neurinoma, or neurilemmoma.
This type of brain tumor develops in the eighth cranial nerve, which controls hearing and
balance and is located in the inner ear near the back of the skull. One part of the eighth cranial
nerve transmits sound and the other part sends balance information to the brain from the inner
ear. It is one of the 12 cranial nerves that originate in the brainstem.
About 5% of all primary brain tumors are acoustic neuromas.

Causes of and risk factors for acoustic neuroma:

Acoustic neuromas are believed to develop from an overproduction of Schwann cells that press
on the hearing and balance nerves in the inner ear. Schwann cells are cells that normally wrap
around and support nerve fibers. If the tumor becomes large, it can press on the facial nerve or
brain structure. This type of brain tumor usually develops in adults between the ages of 30 and
60.
People with the genetic condition neurofibromatosis 2 often develop acoustic neuromas in both
ears. Neurofibromatosis 2 causes tumors on the nerves of the head and spinal cord and can cause
brain tumors.

Symptoms of an acoustic neuroma:

The following are the most common symptoms of acoustic neuroma. However, each individual
may experience symptoms differently.
When a neuroma develops, it may cause any or all of the following:

hearing loss

tinnitus (ringing in the ears)

dizziness

paralysis of a facial nerve

life-threatening problems in the brain

The symptoms of acoustic neurinoma may resemble other conditions or medical problems.
Always consult your physician for a diagnosis.

. Acromegaly

What is acromegaly?
Acromegaly is the Greek word for "extremities" and "enlargement." When the pituitary gland
produces excess growth hormone, this results in excessive growth called acromegaly. The
excessive growth occurs first in the hands and feet, as soft tissue begins to swell. This rare
disease affects mostly middle-aged adults. Untreated, the disease can lead to severe illness and
death.

What causes acromegaly?

Overproduction of growth hormone (GH) by the pituitary gland over a long period of time
causes acromegaly. There are several reasons for overproduction of GH. The most common
reason is the presence of a pituitary adenoma, which is a benign (non-cancerous) tumor of the
pituitary gland. These tumors produce excess GH.
According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK),
more than 95% of people with acromegaly have a pituitary adenoma.
Tumors outside the pituitary gland can also cause acromegaly, but this is rare. Learn more about
pituitary tumors.

What are the symptoms of acromegaly?

Symptoms of acromegaly vary depending on how long the patient has had the disease. The
following are the most common symptoms of acromegaly. However, each individual may
experience symptoms differently. Symptoms may include:

swelling of the hands and feet

facial features become coarse as bones grow

body hair becomes coarse as the skin thickens and/or darkens

increased perspiration accompanied with body odor

protruding jaw

voice deepening

enlarged lip, nose, and tongue

thickened ribs (creating a barrel chest)

joint pain

degenerative arthritis

enlarged heart

enlargement of other organs

strange sensations and weakness in arms and legs (carpal tunnel syndrome)

snoring

fatigue and weakness

headaches

loss of vision

irregular menstrual cycles in women

breast milk production in women

impotence in men

diabetes

high blood pressure

The symptoms of acromegaly may resemble other conditions or medical problems. Always
consult your physician for a diagnosis.

How is acromegaly diagnosed?

Due to the subtlety of the symptoms, acromegaly is often not diagnosed until years later. In
addition to a complete medical history and medical examination, diagnostic procedures for
acromegaly may include:

serial photos taken over the years (to observe physical changes in the patient)

x-rays (to detect bone thickening)

blood tests (to check the growth hormone level)

Treatment for acromegaly:

Specific treatment for acromegaly will be determined by your physician based on:

your age, overall health, and medical history

extent of the disease

your tolerance for specific medications, procedures, or therapies

expectations for the course of the disease

your opinion or preference

Treatment of acromegaly depends on the cause of the disease. More than 95 percent of
acromegaly cases are caused by benign tumors on the pituitary gland. Because the tumor is
compressing the pituitary gland, the hormone production can be altered. Some other acromegaly
cases are caused by tumors of the pancreas, lungs, or adrenal glands.
The goal of treatment is to restore the pituitary gland to normal function, producing normal
levels of growth hormone.

Treatment may include removal of the tumor, radiation therapy, and injection of growth hormone
blocking drugs.
Left untreated, acromegaly can lead to worsening diabetes mellitus and hypertension. The
disease also increases a patient's risk for cardiovascular disease and colon polyps that may lead
to cancer.

Acute Encephalitis
Acute encephalitis is an inflammatory condition of the central nervous system. It is a complex
and severe disease. Acute encephalitis can be caused by a wide variety of conditions, including:

Bacterial or viral infection in the brain

Ingestion of toxic substances

Complication of an infectious disease

Complication of an underlying malignancy

Symptoms of acute encephalitis can vary, depending on which part of the brain that is most
affected. A few symptoms that may be common in patients with acute encephalitis include (but
are not limited to):

Fever

Headache

Sensitivity to light or sound

Confusion

Poor memory/memory loss

Disorientation

Irritability

Anxiety

Seizures

Weakness or numbness of arm or leg

Pituitary Adenomas
Pituitary adenomas are common benign tumors of the pituitary gland. It is said that up to 10%
of people will have a pituitary adenoma (which might never have caused a problem) by the time
of their death. Some tumors secrete one or more hormones in excess. Such so-called secretory
pituitary adenomas are usually found due to hormonal imbalances that affect bodily functions.
They may be relatively small when detected.
People can develop pituitary adenomas at any age. Most pituitary adenomas are in the front part
(anterior lobe) of the pituitary gland.

Pre-op image of pituitary macroadenoma

Post-op image of pituitary macroadenoma

Types of pituitary adenomas:

There are multiple types of adenomas, classified by size and whether they produce hormones.
Secreting tumors, functioning tumors, or endocrine-active tumors
About 50% of adenomas produce too much of one of the hormones. These adenomas are called
secreting tumors, functioning tumors or endocrine-active tumors.
Non-functioning or endocrine-inactive pituitary tumors
Some secreting tumors produce more than one type of hormone, causing hypeprolactinemia,
acromegaly or Cushing's disease. Non-secreting pituitary tumors do not make extra hormones.
They are also called non-functioning or endocrine-inactive pituitary tumors.
Pituitary adenomas have specific signs and symptoms that are primarily related to the
endocrinopathies produced by hypersecretion.

The prolactin-secreting pituitary adenomas are the most common, and account for
approximately 30% of all pituitary tumors. The clinical findings are galactorrhea and
reproductive dysfunction.

The endocrinopathy of excess growth hormone results in enlargement of the extremities,

face and the soft tissues, producing a characteristic appearance called acromegaly.
Acromegaly can be associated with hypertension, diabetes mellitus and cardiovascular
disease. Further, acromegaly is associated with decreased life expectancy.

ACTH Producing Tumor

(Cushings Disease)

Growth Hormone Producing Tumor (Acromegaly)

A coronal image demonstrates a prolactinoma on the left side of

the pituitary gland

Prolactinoma: prolactin-secreting pituitary adenoma

Prolactinoma is a type of pituitary tumor that produces prolactin. The prolactin
hormone stimulates milk production from the breasts. Prolactinomas may present with visual
symptoms due to compression of the optic chiasm if the tumor is large. Prolactin levels in the
blood help to make the diagnosis as these levels can be very high. The levels of prolactin are
useful to monitor the success of treatment (prolactin levels decrease after treatment).

Microadenoma: <10mm
A pituitary adenoma that is smaller than 10 mm in diameter (about three-fourths of an inch
across) is called a microadenoma.

Macroadenoma: >10mm
A pituitary adenoma equal to or larger than 10 mm is called a macroadenoma.
Pre-operative images of patient with non-functional pituitary macroadenoma

Post-operative images of patient with non-functional pituitary macroadenoma who underwent

endonasal transphenoidal endoscopic-assisted resection

Symptoms of an adenoma:
The most common symptoms include:

Headaches

Vision problems that cannot be easily explained

Menstrual cycle changes in women

Mood swings or behavior changes

Erectile dysfunction

Weight change

Diagnosis of an adenoma:

Blood and urine tests to measure hormone levels and medical imaging provide the best means of
diagnosing pituitary tumors. Diagnostic imaging may include a high-resolution, T1 weighted,
gadolinium enhanced MRI. In addition, blood and urine tests to obtain endocrine diagnostics
may be performed to establish basal levels of PRL, GH, IGF-1, free thyroxine, cortisol, and
testosterone (in males) levels.

Treatment of an adenoma:
Specific treatment for adenomas is coordinated by a neurosurgeon and endocrinologist
(hormonal disorder specialist) on the Pituitary Tumor team. Treatment may include surgery,
including surgical removal via a procedure called endonasal transphenoidal endoscopic surgery,
medical therapy, radiation therapy, hormone therapy, and/or observation.

ALS - Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig's disease, is a
progressive neuromuscular disease. ALS is characterized by a progressive degeneration of motor
nerve cells in the brain (upper motor neurons) and spinal cord (lower motor neurons). When the
motor neurons can no longer send impulses to the muscles, the muscles begin to waste away
(atrophy), causing increased muscle weakness. ALS does not impair a person's intellectual
reasoning, vision, hearing or sense of taste, smell and touch. In most cases, ALS does not affect a
person's sexual, bowel or bladder functions.
ALS is often referred to as a syndrome because the disease becomes apparent in various patterns.
ALS occurs rarely and spontaneously. Currently, there is no cure for amyotrophic lateral
sclerosis.

ALS Statistics

Most people who develop ALS are between the ages of 40 and 70, although the disease
can occur at a younger age.

It occurs throughout the world with no racial, ethnic or socioeconomic boundaries.

It affects as many as 30,000 in the United States, with 5,000 new cases diagnosed each
year.

Estimates suggest that ALS is responsible for as many as five of every 100,000 deaths in
people aged 20 or older.

ALS is most common among persons over age 60.

The incidence of ALS is five times higher than Huntington's disease and about equal to
multiple sclerosis.

Many ALS patients can live longer and more productive lives because of current research into
the cause, prevention and cure for the disease. Improvements in medical management, including
nutrition and breathing, regularly increase patient survival. Fifty percent of affected patients live
at least three or more years after diagnosis; 20 percent live five years or more; and up to 10
percent will survive more than ten years.

Causes of ALS
ALS is a somewhat diverse and decidedly mystifying disease. In more than nine out of every 10
cases diagnosed, no clear identifying cause of the disease is apparent, that is, patients lack an
obvious genetic history, complete with affected family members. Also, nothing about the way
patients live their lives gives scientists and clinicians clues as to what causes ALS. Nothing in
patients diet, where theyve lived, how theyve lived or what theyve done with their lives can
easily explain why theyve developed this late onset, fully developed and progressive disease.
However, in about 5 percent of cases, a clear genetic history exists. The disease is classed as
autosomal dominant in these patients; that is, that almost half of all family members show a clear
history of ALS. Studies in the early 1990s on the genetic form of the disease, including work by
one of our scientific advisors, Dr. Robert Brown, revealed that a single gene defect could account
for a portion of these familial cases.
Mutations in the gene for the enzymes superoxide dismutase 1 (SOD1) or copper zinc superoxide
dismutase have been found in approximately 15-20 percent of the familial cases of ALS. Some
quick math shows, then, that approximately 1 to 2 percent of all cases of ALS involve this
particular gene mutation.
Still, for the majority of ALS cases, we do not know what causes the disease. Researchers
havent been idle, however, and several attractive theories exist on what could cause or
contribute to the death of motor neurons in ALS. Center scientists are focusing on these
pathogenic theories.

What are the Symptoms of ALS?

The following are the most common symptoms of ALS. Each individual, however, may
experience symptoms differently. Symptoms may include:

twitching and cramping of muscles, especially those in the hands and feet

loss of motor control in the hands and arms

impaired use of the arms and legs

weakness and fatigue

tripping and falling

dropping things

uncontrollable periods of laughing or crying

slurred or thick speech and difficulty in projecting the voice

As the disease progresses, symptoms may include:

shortness of breath

difficulty breathing

difficulty swallowing

paralysis

The symptoms of ALS may resemble other conditions or medical problems. Consult a physician
for diagnosis.

How is ALS Diagnosed?

In addition to a complete medical history and physical examination, diagnostic procedures for
ALS may include:

laboratory tests - including blood and urine studies and thyroid functioning tests

muscle and/or nerve biopsy

cerebral spinal fluid analysis (spinal tap) - a procedure used to make an evaluation or
diagnosis by examining the fluid withdrawn from the spinal column.

X-rays

magnetic resonance imaging (MRI) - a way to image soft tissues that's noninvasive and
that doesn't involve X-rays. MRI produces a sharp, two-dimensional view of the brain
and spinal cord.

electrodiagnostic tests (i.e., electromyography (EMG) and nerve conduction velocity, or

NCV) - studies that evaluate and diagnose disorders of the muscles and motor neurons.

Electrodes are inserted into the muscle, or placed on the skin overlying a muscle or
muscle group, and electrical activity and muscle response are recorded.

How is ALS Medically Classified?

Making a proper diagnosis in ALS is complicated because symptoms can vary in each patient.
For greater accuracy, physicians have classified every known form:
Classical ALS - a progressive neurological disease characterized by a deterioration of upper and
lower motor neurons (nerve cells). This type of ALS affects more than two-thirds of those with
the disease.
Primary Lateral Sclerosis (PLS) - a progressive neurological disease in which the upper motor
neurons (nerve cells) deteriorate. If the lower motor neurons are not affected within two years,
the disease usually remains a pure upper motor neuron disease. This is the rarest form of ALS.
Progressive Bulbar Palsy (PBP) - a condition that starts with difficulties in speaking, chewing
and swallowing due to lower motor neuron (nerve cell) deterioration. This disorder affects about
25% of those with ALS.
Progressive Muscular Atrophy (PMA) - a progressive neurological disease in which the lower
motor neurons (nerve cells) deteriorate. If the upper motor neurons are unaffected within two
years, the disease usually remains a pure lower motor neuron disease.
Familial - a progressive neurological disease that affects more than one member of the same
family. This type of ALS accounts for a very small number of people with ALS in the United
States (between five and ten percent).

Alzheimer's Disease

Alzheimer's disease (AD) is the most common form of dementia, accounting for as much as 70%
of all cases of dementia. The earliest symptom in most patients is progressive difficulty learning
and retaining new information. With progression of the disease, symptoms of poor judgment,
disorientation, word finding problems and difficulties with spatial relationships develop.
Eventually AD affects almost all aspects of brain functioning, including personality, and the
ability to perform the most basic activities of daily functioning.
Patients with progressive memory loss should be evaluated to rule out possible treatable causes
of memory loss, such as thyroid disease or vitamin deficiencies. Brain imaging and detailed
examination of cognitive functions through a neuropsychological examination may be required
to establish a diagnosis of AD. If a diagnosis of AD is confirmed, there are now several
medications available that have been shown to ameliorate the symptoms of the disease.

Age is one of the most important risk factors for AD; the number of patients with AD doubles
every 5 years beyond age 65. The underlying cause of the symptoms is the gradual loss of nerve
cells in the brain, as a result of the accumulation of abnormal structures called amyloid plaques
and neurofibrillary tangles.
Amnesia
What is amnesia?

Amnesia is a general term for a syndrome that involves substantial difficulty learning and
retaining new information. Some forms of amnesia, such as transient global amnesia, are
transient and completely reversible.
Other treatable causes of memory loss include: medication side effects, drug and alcohol use,
metabolic conditions, such as thyroid disease or vitamin deficiencies. Some forms of amnesia
occur because of isolated damage to the brain, such as in Korsakoffs syndrome.
Although memory loss is often the earliest sign of a progressive dementing disorder, it is
important to remember that memory loss need not be a harbinger of dementia. Therefore, it is
recommended that a patient with memory change should be carefully evaluated to rule out
treatable causes of the memory loss. It should not be assumed that memory loss is just a part of
normal aging.
Amyloid Neuropathy

Disorders of peripheral nerves are the most common neurological complications of systemic
amyloidosis; an illness where a protein called amyloid is deposited in tissues and organs.
Amyloidosis can affect peripheral sensory, motor or autonomic nerves and deposition of amyloid
lead to degeneration and dysfunction in these nerves.
Symptoms

The typical symptoms of amyloid neuropathy are due to sensory and autonomic dysfunction.
Patients may experience painful paresthesias (unusual sensations), numbness and balance
difficulties due to sensory dysfunction and persistent nausea, vomiting, diarrhea, constipation,
incontinence, sweating abnormalities or sexual dysfunction due to autonomic nerve involvement.
Diagnosis

Diagnosis of amyloid neuropathies is based on history, clinical examination and supporting

laboratory investigations. These include electromyography with nerve conduction studies, skin
biopsies to evaluate cutaneous nerve innervation, and nerve and muscle biopsies for

histopathological evaluation. In cases of familial amyloidosis, genetic testing in the blood may
be useful.
Treatment

Treatment of amyloid neuropathies is directed at both preventing further deposition of amyloid in

peripheral nerves and treating painful symptoms. Depending on the type of amyloid protein,
patients may benefit from liver or bone marrow transplant. Neuropathic pain due to amyloid
neuropathy can be treated with anti-seizure medications, antidepressants, or analgesics including
opiate drugs. In severe painful conditions patients may be referred to the Blaustein Chronic Pain
Clinic for a multidisciplinary approach to pain management.

Astrocytomas in Children
What is an astrocytoma?
Astrocytomas are the most common type of glioma. This type of glioma develops from glial cells
called astrocytes, most often in the cerebrum (the large, outer part of the brain), but also in the
cerebellum (the lower, back part of the brain).
About half of childhood brain tumors are astrocytomas. They are most common in children
between the ages of 5 and 8.
They can be slow-growing (low grade, Grade I or II) or fast-growing (high grade, Grade III or
IV). Most astrocytomas in children (80%) are low grade. Sometimes they spread to the spine.

There are four primary types of astrocytomas in children:

Juvenile pilocytic astrocytoma (Grade I): This slow-growing tumor is the most
common brain tumor found in children. Juvenile pilocytic astrocytoma is usually cystic
(fluid-filled) and develops in the cerebellum. Surgical removal is often the only treatment
necessary.

Fibrillary astrocytoma (Grade II): This brain tumor infiltrates into the surrounding
normal brain tissue, making surgical removal more difficult. A fibrillary astrocytoma may
cause seizures.

Anaplastic astrocytoma (Grade III): This brain tumor is malignant. An anaplastic

astrocytoma can produce symptoms such as weakness, unsteady walking and a loss of

sensation.

Glioblastoma multiforme (Grade IV): This is the most malignant type of astrocytoma.
It grows rapidly, increasing pressure in the brain.

Arachnoid Cysts
What is an arachnoid cyst?
Arachnoid cysts are the most common type of brain cyst. They are congenital lesions that occur
as a result of the splitting of the arachnoid membrane. The cysts are fluid-filled sacs, not tumors,
appearing in one of the three layers of tissue covering the central nervous system.

Symptoms of arachnoid cysts

Most cysts that will become symptomatic do so in early childhood. Specific symptoms depend
on the location of the cyst, but can include:

headache

nausea/vomiting

lethargy

seizures

mass protrusion in the skull

focal neurological signs secondary to pressure of surrounding structures

developmental delay

hydrocephalus due to obstruction of normal cerebrospinal fluid (CSF) circulation

endocrine symptoms such as early onset of puberty

head bobbing

visual impairment

Arachnoid cysts that do not cause symptoms or impact surrounding areas do not require
treatment, no matter where they are located or how large they are. Otherwise, surgery is
recommended.

How are arachnoid cysts diagnosed?

CT or MRI scans can be used to decide on the best treatment.

Treatment for arachnoid cysts

A very simple, fast and minimally-invasive treatment is burr hole drainage of the cyst. There is
a high rate of recurrence and return of symptoms with this procedure, however.
A craniotomy can also be performed to remove the cyst wall and ensure normal communication
with the cerebrospinal fluid pathways. This is a more invasive procedure, but allows for direct
inspection of the cyst. Another option is the minimally-invasive endoscopic fenestration of the
cyst, where the physician drains the cyst with a needle.
Shunting of the cyst is the simplest surgical procedure. A patient becomes dependent on the
shunt, however, which can cause complications.

Chiari Malformation
What is chiari malformation?
Chiari malformation, also known as an Arnold-Chiari malformation, is a congenital (present at
birth) defect occurring in the back of the head where the brain and spinal cord connect.
There are four types of Chiari malformations:

Type 1 Occurring when the base of the skull and upper spinal area do not form
properly, a type 1 Chiari malformation commonly goes unnoticed until problems arise in
the adolescent or adult years of life. The headaches most typical of Chiari I
malformations are usually located at the back of the head, and are often made worse by
exertion.

Type 2 The most common of all Chiari malformations, type 2 is caused by part of the
back of the brain shifting downward through the bottom of the skull.
o Type 2 Chiari malformations are typically seen in infants who are born with spina
bifida, a neurological condition that causes a portion of the spinal cord and the
surrounding structures to develop outside, instead of inside, the body.

o Type 2 Chiari malformations can also be associated with hydrocephalus, a

condition in which there is an overproduction or lack of absorption of the cerebral
spinal fluid (CSF) that is found inside of the ventricles (fluid-filled areas) inside
of the brain. The increased fluid causes the pressure inside of the head to increase
and the skull bones to expand to a larger-than-normal appearance.

Type 3 Type 3 Chiari malformations occur when the back of the brain protrudes out of
an opening in the back of the skull area.

Type 4 Type 4 Chiari malformations occur when the back of the brain fails to develop
normally.

What causes chiari malformation?

The exact cause of Chiari malformation is unknown; however, it is believed that problems during
fetal development may cause abnormal brain function.
Theories suggest that the following may predispose the fetus to problems that affect the normal
development of the head during pregnancy:

exposure to hazardous chemicals/substances

lack of proper vitamins and nutrients in the diet

infection

prescription or illegal drug and alcohol consumption

Arteriovenous Fistula (DAVF)

What is an arteriovenous fistula (DAVF)?
An arteriovenous fistula, or DAVF, is an abnormal connection of vessels in the tissues around the
brain or spinal cord in which one or more arteries are directly connected to one or more veins or
venous spaces called sinuses. Arteries carry blood from the heart to the tissues, and veins take
blood back from the tissues to the heart. In a DAVF, there is a direct connection between one or
more arteries and veins or sinuses which gives rise to many problems. DAVFs differ from
arteriovenous malformations (AVMs) in that AVMs are found within the tissue of the brain or
spinal cord, but DAVFs are found in the coverings of the brain or spinal cord, such as the dura

mater or arachnoid. The most serious problem associated with DAVFs is that they transfer highpressure arterial blood into the veins or venous sinuses that drain blood from the brain or spinal
cord. This results in an increase in the pressure of the venous system around the brain or spinal
cord.

Symptoms of arteriovenous fistula (DAVF)

There are two major types of AVFs: dural AVFs and carotid-cavernous fistulas (CCFs). These are
acquired lesions, which means that patients are not born with them, but instead develop them
later in life. They can be a result of infection or traumatic injuries, but most develop without any
specific precipitating event. Patients with dural AVFs typically present with a rumbling noise in
one ear that follows the heartbeat, which is called a bruit. Patients with CCFs typically present
with swelling and redness of one or both eyes in addition to a bruit.

Diagnosis of arteriovenous fistula (DAVF)

Currently, we attempt whenever possible to close the DAVFs before the increased pressure in the
venous system causes irreversible damage to the brain or spinal cord. We typically find the
DAVF when we obtain an angiogram. An angiogram (also called an arteriogram) is a special test
in which a neuroradiologist injects dye into the blood vessels in the brain and obtains images of
the blood vessels. At this point, the angiogram is the test that most accurately shows the DAVF
and its relationship to the surrounding arteries and veins. In the case of most DAVFs, the CT and
MRI scans are often read as normal.

Treatment of arteriovenous fistula (DAVF)

At Johns Hopkins, we treat DAVFs using a combination of two methods, depending on the type
of DAVF:

Minimally invasive endovascular embolization typically sufficient to cure the majority

of DAVFs. During this procedure, we pass a catheter through the groin up into the arteries
in the brain that lead to the DAVF and inject liquid embolic agents such as NBCA, glue
or Onyx into these arteries. This injection shuts off that artery and reduces the flow of
blood through the DAVF.

Microsurgical resection reserved for DAVFs that cannot be closed with endovascular
embolization. During microsurgical resection, we perform a craniotomy and using the
microscope isolate the DAVF from the tissues around the brain or spinal cord.

The cerebrovascular team at Johns Hopkins evaluates each DAVF patient to decide the best
treatment for the patient's specific DAVF. In special cases, we will opt to use both techniques in
combination.

Arteriovenous Malformations (AVM)

What is an arteriovenous malformation (AVM)?
An arteriovenous malformation, or AVM, is an abnormal tangle of vessels in the brain or spinal
cord in which one or more arteries are directly connected to one or more veins. Arteries carry
blood from the heart to the tissues and veins take blood back from the tissues to the heart. In an
AVM, the direct connection between one or more arteries and veins gives rise to many problems.
The most serious problem is that veins are typically thin-walled vessels that cannot accept highpressure blood flow for extended periods. The result is that AVMs can rupture and bleed into the
brain.

Diagnosis of an arteriovenous malformation (AVM)

Johns Hopkins estimates that less than one percent of people are born with a brain or spinal cord
AVM. Although AVMs are congenital (which means that patients are born with it), they are not
hereditary (which means that they are not passed from parents to children). Most AVMs declare
themselves by bleeding in adults younger than 40 years old. Some AVMs declare themselves by
causing seizures or headaches. We attempt whenever possible to identify and eliminate AVMs
before they bleed. We typically find the AVM in a computed tomography (CT) scan or, more
commonly, in a magnetic resonance imaging (MRI) scan. If we find an AVM by CT or MRI, we
then obtain an angiogram. An angiogram (also called arteriogram) is a special test in which a
neuroradiologist injects dye into the blood vessels in the brain and obtains images of the blood
vessels. At this point, the angiogram is the test that most accurately shows the AVM and its
relationship to the surrounding arteries and veins.

Treatment for arteriovenous malformation (AVM)

At Johns Hopkins, we treat AVMs using a combination of three methods, depending on the type
of AVM:

Microsurgical resection the most established of the three techniques. During

microsurgical resection, we perform a craniotomy and remove the AVM from the brain or
spinal cord using a microscope.

Stereotactic radiotherapy a more recent technique for the treatment of AVMs. It is also
known as "stereotactic radiosurgery." During this treatment, we deliver a concentrated
dose of radiotherapy to the core of the AVM in one session. Over the course of 2 to 5
years, the vessels of the AVM clot off and the AVM shuts down.

Endovascular embolization also a more recent technique for the treatment of AVMs.
During this treatment, we pass a catheter through the groin up into the arteries in the
brain that lead to the AVM and inject a material into these arteries. This injection shuts

off that artery and reduces the flow of blood through the AVM. Endovascular
embolization by itself typically does not eliminate the AVM and is therefore almost
always used as a preliminary step in preparation for either microsurgical resection or
stereotactic radiotherapy.
The cerebrovascular team at Johns Hopkins evaluates each AVM patient to decide the best
singular procedure or combination of treatments for the patient's specific AVM.

Astrocytomas and Glioblastomas

What is an astrocytoma?

Astrocytomas are glial cell tumors developed from connective tissue cells called astrocytes.
They are most often found in the cerebrum (the large, outer part of the brain), but also in the
cerebellum (the back of the brain). Almost 50% of primary brain tumors are astrocytomas, the
most common type of glioma.
Astrocytomas can develop in people of any age. It is one of the most common brain tumors in
adults and children.
High-grade astrocytomas and glioblastoma multiforme:

High-grade astrocytomas, called glioblastoma multiforme, are the most malignant of all brain
tumors. Cerebellar astrocytomas are gliomas commonly found in children in the cerebellum. In
adults, astrocytomas are more common in the cerebrum.
Brain Tumor - Carlos Luceno's Story
Diagnosed with a grade two astrocytoma brain tumor, Carlos Luceno is currently living with
brain cancer. Carlos is receiving his treatment and care from Johns Hopkins neurosurgeon Dr.
Henry Brem at the Johns Hopkins Comprehensive Brain Tumor Center.
Brain Tumor - Marisa Eickenhorst's Story
Diagnosed with an astrocytoma brain tumor, Marisa was anxious and scared. Her anxiety
gradually faded once she met the man who successfully removed her tumor, Johns Hopkins
neurosurgeon Dr. Alessandro Olivi.

Astrocytomas in Children

What is an astrocytoma?
Astrocytomas are the most common type of glioma. This type of glioma develops from glial cells
called astrocytes, most often in the cerebrum (the large, outer part of the brain), but also in the
cerebellum (the lower, back part of the brain).
About half of childhood brain tumors are astrocytomas. They are most common in children
between the ages of 5 and 8.
They can be slow-growing (low grade, Grade I or II) or fast-growing (high grade, Grade III or
IV). Most astrocytomas in children (80%) are low grade. Sometimes they spread to the spine.

There are four primary types of astrocytomas in children:

Juvenile pilocytic astrocytoma (Grade I): This slow-growing tumor is the most
common brain tumor found in children. Juvenile pilocytic astrocytoma is usually cystic
(fluid-filled) and develops in the cerebellum. Surgical removal is often the only treatment
necessary.

Fibrillary astrocytoma (Grade II): This brain tumor infiltrates into the surrounding
normal brain tissue, making surgical removal more difficult. A fibrillary astrocytoma may
cause seizures.

Anaplastic astrocytoma (Grade III): This brain tumor is malignant. An anaplastic

astrocytoma can produce symptoms such as weakness, unsteady walking and a loss of
sensation.

Glioblastoma multiforme (Grade IV): This is the most malignant type of astrocytoma.
It grows rapidly, increasing pressure in the brain.

What is Ataxia?

Ataxia is typically defined as the presence of abnormal, uncoordinated movements. This usage
describes signs & symptoms without reference to specific diseases. An unsteady, staggering gait
is described as an ataxic gait because walking is uncoordinated and appears to be not ordered.
Many motor activities may be described as ataxic if they appear to others, or are perceived by
patients, as uncoordinated.

Ataxia can also refer to a group of neurological disorders in which motor behavior appears
uncoordinated. Walking, speaking clearly, swallowing, writing, reading, and other activities that
require fine motor control may be abnormal in patients with ataxia. Ataxia may result from
abnormalities in different parts of the nervous system or different parts of the body, such as
ataxic movements due to orthopedic injuries or pain from arthritis or muscle injury.
What causes ataxia?

Ataxia may result from abnormalities in different parts of the nervous system, including the
central nervous system (brain and spinal cord) and peripheral nervous system (roots and nerves
that connect the central nervous system to muscles, skin, and the outside world). When patients
experience abnormal walking or uncoordinated use of their hands or arms, dysfunction of the
cerebellum is often responsible. The cerebellum is a rounded structure attached to the brainstem
with a central portion (vermis) and two lateral lobes (cerebellar hemispheres). It sits beneath the
back of the cerebral hemispheres (occipital cortices). The outer surface of the cerebellum is a
continuous layer of nerve cells called the cerebellar cortex. The cortex is a three-layered sheet of
neurons that are extensively interconnected and have a highly regular geometric organization.
The cerebellar cortex receives information from most parts of the body and from many other
regions of the brain. The cerebellum integrates this information and sends signals back to the rest
of the brain that enable accurate and well coordinated movements.
Although unsteady gait may result from problems in different parts of the nervous system or of
the body, abnormal walking due to cerebellar dysfunction has distinct features that are usually
recognizable. Persons with an ataxic gait due to cerebellar dysfunction keep their legs further
apart than normal, referred to clinically as a broadened base. They often stagger and resemble
persons who have ingested excessive alcohol. The resemblance of ataxia to inebriation is not a
coincidence as alcohol is known to affect the main nerve cells in the cerebellum. Although brief
alcohol-induced staggering is usually reversible, repeated exposure to high doses of alcohol may
cause degeneration of neurons in the cerebellum and result in persistent ataxia. Purkinje neurons
are unusually susceptible to different forms of injury, including other toxins, prolonged seizures,
and lack of oxygen. Cerebellar ataxia differs from gait problems due to abnormalities in other
parts of the nervous system, such as the abnormal gait seen in Parkinsons disease, normal
pressure hydrocephalus, or different forms of spasticity in the legs. Cerebellar ataxia is also
distinguishable from abnormal walking due to pain and/or muscle or orthopedic abnormalities in
the hips, legs, or feet.

Atypical Facial Pain

What is Atypical Facial Pain?

Atypical Facial Pain is a pain disorder of the face which shares some features with trigeminal
neuralgia. The pain may be different most often longer in duration (minutes, hours, or
continuous), and of a dull, aching, burning, sharp, squeezing, or crushing quality. Sometimes the
pain may be precipitated by sinus surgery, dental work, or facial trauma. Atypical facial pain may
also be caused by an injury to a small branch of one of the three divisions of the trigeminal
nerve.
How is Atypical Facial Pain treated?

Each case is unique and is handled individually. Some patients with atypical facial pain respond
well to medication, and others respond well to local nerve blocks. Generally, the surgical and
radiation treatments that work well for trigeminal neuralgia do not work as well for atypical
facial pain.

Benign Rolandic Epilepsy

What is benign rolandic epilepsy?
Benign rolandic epilepsy, also known as benign epilepsy with centrotemporal spikes
(BECTS), is an epilepsy syndrome affecting children, characterized by twitching, numbness, or
tingling of the child's face or tongue, and may interfere with speech and cause drooling. Seizures
spread and become generalized seizures.
In many cases, the seizures are infrequent and usually occur only at night. These seizures
typically last no more than 2 minutes and the child remains fully conscious.
BRE typically begins around ages 6-8, and is more likely to affect boys than girls. This
syndrome represents about 15% of all epilepsies in children.

How is benign rolandic epilepsy treated?

Many children do not take any seizure medicines for BRE, and seizures nearly always stop by
early adolescence. Medication may be prescribed if the child has seizures during the day,
seizures disrupt sleep at night, or the child has a reading disability that may be associated with
BRE. The following common seizure medicines may be prescribed:

Carbamazepine

Levetiracetam

Oxcarbazepine

Brachial Plexus Injury (BPI)

What is the brachial plexus?
The brachial plexus is a network of nerves that originate in the neck region and branch off to
form most of the other nerves that control movement and sensation in the upper limbs, including
the shoulder, arm, forearm, and hand. The radial, median, and ulnar nerves originate in the
brachial plexus.

Causes of a brachial plexus injury

Brachial plexus injury (BPI) is an umbrella term for a variety of conditions that may impair
function of the brachial plexus nerve network. The majority of pediatric and adult brachial plexus
injuries are caused by trauma. The most common inciting events may include:

High-speed vehicular accidents, especially motorcycle accidents

Blunt trauma

Stab or gunshot wounds

Inflammatory processes (brachial plexitis)

Compression (for example caused by a growing tumor)

Neuropathies

A brachial plexus injury occurring during birth is called birth related brachial plexus palsy or
obstetric brachial plexus palsy.

What is obstetric brachial plexus palsy?

Obstetric brachial plexus palsy occurs in less than 1% of live births. It is most common when
there is difficulty delivering the baby's shoulder. During delivery, the baby's shoulder may
become impacted on the mothers pubic bone causing the brachial plexus nerves to stretch or tear
(shoulder dystocia). The prognosis for recovery depends on the pattern, complexity, and
severity of injury. Erb's Palsy refers to an injury of the upper brachial plexus nerves leading to
loss of motion around the shoulder and ability to flex the elbow. Klumpke's palsy refers to an
injury of the lower brachial plexus leading to loss of motion in the wrist and hand.

Types of brachial plexus injuries

Brachial plexus injuries are categorized according to the type of trauma experienced by the
nerve. The following are the types of brachial plexus injuries:

Avulsion this means the nerve has been pulled out from the spinal cord and has no
chance to recover.

Rupture this means the nerve has been stretched and at least partially torn, but not at
the spinal cord.

Neurapraxia this means the nerve has been gently stretched or compressed but is still
attached (not torn) and has excellent prognosis for rapid recovery

Axonotemesis this means the axons (equivalents of the copper filaments in an electric
cable) have been severed. The prognosis is moderate.

Neurotemesis this means the entire nerve has been divided. The prognosis is very poor.

Neuroma this refers to a type of tumor that grows from a tangle of divided axons
(nerve endings), which fail to regenerate. The prognosis will depend on what percentage
of axons do regenerate.

Obstetric Brachial Plexus Palsy

Where is the brachial plexus?
The brachial plexus is a network of nerves in the shoulder that carries signals from the spinal
cord to the arms and hands. It allows people to control movements and feel sensations in the
arms and hands. When the brachial plexus nerve in the shoulder is injured during the birthing
process, this condition is called obstetric brachial plexus palsy.

What is obstetric brachial plexus palsy?

Injury to the brachial plexus is fairly common during the birthing process, occurring in 1-2 births
per 1,000. Larger babies in difficult deliveries are particularly prone to this injury. The brachial
plexus can also be injured when nerves are stretched by a blow to the shoulder or when bones
around them are broken.

Erb's Palsy refers to an injury of the upper brachial plexus nerves leading to loss of motion
around the shoulder and ability to flex the elbow. Klumpke's palsy refers to an injury of the
lower brachial plexus leading to loss of motion in the wrist and hand.

Symptoms of brachial plexus palsy

Children and babies with brachial plexus injuries will typically have a number of the following
symptoms:

Unable to lift their arm above their head

Unable to bring objects to their mouth

Unable to move their fingers

Unable to feel things in their arm, hand or fingers

Tingling or pain in their arm, hand or fingers

Treatment for obstetric brachial plexus palsy

Early diagnosis and treatment can seriously improve long-term outcomes for these injuries. The
seriousness of these injuries can vary widely. Many children will regain all or most function
through occupational therapy. If no improvement is seen after three months, however, a pediatric
neurologist and pediatric neurosurgeon should determine if the child can benefit from other
interventions or surgery. 1 in 10 babies with brachial plexus injury will require some level of
surgery. If the injury occurred during the birthing process, the best age for surgery is between
four and nine months, as waiting more than a year can result in long-term damage.

Ice Cream Headache (Brain Freeze)

What is an Ice Cream Headache?

More of an unpleasant quirk of our existence than a serious disease, many people experience
these sudden, excruciating and brief headaches after ingesting something cold. Technically
known as cold-stimulus headaches, an ice cream headache is set-off when an unusually cold
substance passes over the palate and back of the throat. Typical triggers include blended icy
drinks, popsicles, and ice cream, particularly when consumed rapidly on a warm day.
No one is quite sure what causes the actual pain, but it is thought that a combination of direct
stimulation of temperature-sensitive nerves plus the colds effects on blood vessels running along
the roof of the mouth. The pain, through a quirk of our anatomy, is not felt so much in the mouth

as it is referred to other areas of the face - behind the eyes and nose, the forehead, etc. One
study has suggested that migraine sufferers may be more susceptible to these headaches.

Brain Stem Gliomas

What is a brain stem glioma?
Brain stem gliomas are tumors found in the brain stem. Most brain stem tumors cannot be
surgically removed because of the remote location and delicate and complex function this area
controls.
Brain stem gliomas occur almost exclusively in children, most often in school-age children.

Learn about other types of gliomas: astrocytoma, ependymoma, mixed glioma,

oligodendroglioma, optic nerve glioma.
Ependymoma
What is an ependymoma?

Ependymoma is a type of glioma that develops from ependymal cells. Ependymomas usually
develop in the lining of the ventricles or in the spinal cord. The most common place they are
found in children is near the cerebellum. The tumor often blocks the flow of the cerebral spinal
fluid (CSF), causing increased intracranial pressure.
Ependymomas are rare, accounting for just 2-3% of primary brain tumors. However, they
account for about 8-10% of brain tumors in children. They most often occur in children younger
than 10 years of age.

Mixed Gliomas
What is a mixed glioma?
A mixed glioma is a malignant glioma made up of more than one type of glial cell. This type of
glioma may also be called an oligo-astrocytoma. Mixed gliomas are often found in the
cerebrum, but may metastasize to other parts of the brain.
Only about 1% of primary brain tumors are mixed gliomas. They are most common in adult men.

Symptoms of a mixed glioma:

Gliomas cause symptoms by pressing on the brain or spinal cord. Some gliomas may not present
any symptoms at all. The most common symptoms are:

headache

seizures

mood disturbances

changes in vision

nausea or vomiting

The first symptoms likely to present for a mixed glioma may be caused by pressure on the brain,
which may be due to a cerebrospinal fluid (CSF) leak.

Treatment for a mixed glioma:

Treatment for an mixed glioma may include surgery, radiotherapy, chemotherapy, or
observation. Learn more about treatment for mixed gliomas.
Oligodendroglioma
What is an oligodendroglioma?

Oligodendroglioma is a type of glioma that develops from oliogodendrocytes, which are the
supportive tissue cells of the brain, and are usually found in the cerebrum.
About 4% of primary brain tumors are oliogodendrogliomas. They are most common in young
and middle-aged adults. Seizures are a very common symptom of these gliomas, as well as
headache, weakness, or changes in behavior or sleepiness.
Oligodendrogliomas have a better prognosis than most other gliomas, but they can become more
malignant with time.
Optic Nerve Gliomas
What is an optic nerve glioma?

Optic nerve gliomas are a type of malignant glioma (brain tumor) found in the optic chiasm.
Optic nerve gliomas often surround the optic nerves, which send messages from the eyes to the
brain. They are frequently found in persons who have neurofibromatosis.

Symptoms of an optic nerve glioma:

A person with an optic nerve glioma usually experiences loss of vision, as well as hormone
problems, since these tumors are usually located at the base of the brain where hormonal control
is located. They are typically difficult to treat due to the surrounding sensitive brain structures.
Learn more about symptoms for gliomas.
Treatment for optic nerve gliomas:

Treatment for an optic nerve glioma may include surgery, radiotherapy, chemotherapy, or
observation. Learn more about treatment for optic nerve gliomas.

Brain Stem Gliomas in Children

What is a brain stem glioma?
Brain stem gliomas are tumors found in the brain stem.
The brainstem is a very delicate location where many pathways from the brain to the spinal cord
travel. Tumors in this location can be very challenging to treat. The majority of the tumors are
located in the middle of the brainstem and cannot be surgically removed. A minority of brainstem
tumors are more favorably located and can be treated with surgery.
Brain stem gliomas occur almost exclusively in children; the group most often affected is the
school-age child. The child usually does not have increased intracranial pressure, but may have
problems with double vision, movement of the face or one side of the body, or difficulty with
walking and coordination.

Symptoms of brain tumors in the brainstem (base of brain)

may include:

seizures

endocrine problems (diabetes and/or hormone regulation)

visual changes or double vision

headaches

paralysis of nerves/muscles of the face, or half of the body

respiratory changes

increased intracranial pressure (ICP)

clumsy, uncoordinated walk

hearing loss

personality changes

Types of Brain Tumors

What are the main types of brain tumors?
Different Types of Brain Tumors

Jon Weingart, MD, discusses the main types of brain tumors. Dr Weingart is a neurosurgeon and
professor of Neurological Surgery and Oncology at Johns Hopkins Medicine.