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Young Girl

Devendra Patil
I7 year old female pt presented with

seizures 3 episodes since last 6 months.

GTCS; lasted for 5 mins,
Associated with frothing from mouth.
No h/o tongue bite, bladder and bowel disturbances.
With post ictal LOC
No h/o fever, head injury, altered sensorium.
No h/o vomiting, head ache, Blurring of vision.
No h/o chest pain, palpitation, dyspnea, syncope
Not a known case of DM/SHT/ CHD/BA/ TB
No h/o seizure in child hood or perinatal insult.
Pt studying in college. Performance is good.
Pt not on any chronic medications.
No h/o surgery in the past.
Personal history: nil significant.
Menstrual history: cycles regular, no
menorroghoea, dysmenorrhoea,
Pt conscious, oriented, afebrile.
Pulse : 78/ MIN, regular
Bp : 110/70 mm hg .
RR- 16/ min regular. Not in distress
No pallor, icterus, cyanosis, pedal edema,
cyanosis, clubbing, lymphadenopathy.
CVS :S1, S2 heard. No murmurs.
RS: NVBS HEARD. No added sounds.
P/A : soft , non tender, no organomegaly, no
free fluid.
Higher functions: normal
Cranial nerves: normal
Spinomotor system:
Tone normal
No motor deficit.
tendon reflexes normal
Plantar- b/l flexor.
No cerbellar signs.
Fundus- normal
Provisional diagnosis
seizures for evaluation
Lab investigations

CBC: Urine routine:

Albumin, sugar- nil.
Tc- 5100/cumm Pus cells -1to 3 cells /hpf

Dc p -65. l-35
Hb 11.8 gms
Pcv- 35%
Platelets- 2 lakhs.
Urea- 34 mg, creat- 0.9 mg
Na- 137 meq/l, k- 4, cl- 100, bicarb- 20meq/l
Ecg :
Rate- 90/min
Regular ; normal axis ; p wave - normal
Pr interval- 120 msec
Qrs-0.08 sec
Qt interval- 448 msec
Bazets formula : Qtc- 546 msec
Rule of thumb in QT interval
Acute myocarditis, acute MI, HOCM,
torsade de pointes.
Jervell-lange-nielsen syndrome
Romano-ward synd
Cerebral injury.
Tricyclic antidepressants.
Antimalarials- halofantrine
Chest radiograph : NAD
Ct brain:- Normal study
EEG : Normal Study
Problems :
Prolonged QT in ECG
CT Brain normal
Serum calcium: 5.7 mg/dl[normal-8-10]
Investigations needed to work up a case of
Sr. Calcium ( total / ionised / unionised )
Sr. Albumin levels
Sr. Phosphate levels
Sr. Parathormone levels
24 Hrs urinary calcium
Sr. Magnesium
Sr. 25 (OH)vit D levels
Sr. Alkaline Phosphatase levels
Serum calcium: 5.7 mg/dl[normal-8-10]
Serum albumin : 3.8 gm /dl
Ionised calcium- 0.452 mmol/l[ 1.16-1.32]
Unionised calcium- 0.458 mmol/l
Serum Phosphorus : 6.2 (2.5 4.5 mmol/dl )
Serum PTH : 5.2pg/ml ( 8-51 pg/ml )
24 Hrs urine Calcium : 7mg/L (< 300mg/day)
Sr. Alkaline Phosphatase : 37 IU/l ( 33-100)
ABG ( room air , at rest )
Po2- 102.4mm hg
Pco2 -39.4 mm hg
Ph- 7.427
Na -138.6. K- 3.17, Cl - 92.9 ( all in meq/l)
Hco3 25.4 mmol/l
Osmololity: 287.6 mosm/kg
Impression : normal study.
Functional classification of
PTH low/ absent: PTH ineffective Pth overwhelmed:

Hereditary CRF severe acute

Acquired Active VIT-D lacking: Tumour lysis
Reduced intake ARF
Hypomagnesemia Low sunlight Rhabdomyolysis
Anticonvulsant use Burns
Dependant rickets- type1 Pancreatitis

Active vitamin-d Osteitis fibrosa after para

ineffective: thyroidectomy
Dependant rickets- type 2

Pseudo hypo PTH

Serum magnesium: 2.1 mg/dl[1.7 to 2.55]
History didnt suggest any cause that could lead
to acquired hypoparathyroidism
No significant history in family members
No facial dysmorphism ; short stature.
Skin No hyperpigmentation / vitiligo / muco-
cutaneus candidiasis / abscess n scars /
eczematous changes.
Thyroid profile :Normal
Further plan was:
Anti parathyroid antibodies
Double antigen PTH immune assay
Screening for subclinical endocrine pathologies
Why this case was different
Age of onset
Hypocalcemia without any evidence of signs
of peripheral neuro-muscular excitibility.
CT brain : not showing the evidence of basal
ganglia calcifications
Difference of treatment in a case of hypo PTH
as compared to HypoCa+ without hypoPTH
Age of onset
Idiopathic and hereditary hypoparathyroidism
usually manifest in the first decade but can
present later.
Harrison 17/e
Clinical Manifestation
of hypocalemia
Numbness and tingling sensations in the perioral area or in the fingers and toes
Muscle cramps, particularly in the back and lower extremities; may progress to carpopedal spasm
(ie, tetany)
Wheezing; may develop from bronchospasm
Voice changes (due to laryngospasm)
Chovstek n Trosseau Sign ( Latent Tetany )
Irritability, impaired intellectual capacity, depression, and personality changes
Seizures (eg, grand mal, petit mal, focal)
Other uncontrolled movements
Shortness of breath
Symptoms of congestive heart failure (possible)
Coarse hair
Brittle nails
Dry skin
-- subcapsular cataract
Few articles
Arq. Neuro-Psiquiatr. vol.62 no.1 So Paulo Mar. 2004
doi: 10.1590/S0004-282X2004000100028
Hypocalcemic myopathy without tetany due to idiopathic hypoparathyroidism: case report
Myopathy due to idiopathic hypoparathyroidism is very unusual. We report on a 30 years-old man
referred with complaints of sporadic muscle pain and mild global weakness for 10 years. His
physical examination showed normal strength in distal muscle and slightly weakness in the pelvic
Deep muscle reflexes were
and scapular girdles with no atrophy.
slightly hypoactive. Trousseau's and Chvostek's signs
were absent. He had bilateral cataract and complex partial seizures. His laboratory tests
showed decreased ionised and total calcium and parathyroid hormone and increased muscle
enzymes. EMG and muscle biopsy was compatible with metabolic myopathy. After treatment with
calcium and vitamin D supplementation he showed clinical, neurophisiological and laboratorial
improvement. In conclusion: patients with muscle symptoms, even when non-specific and with
normal neurological examination, should have serum calcium checked, as myopathy due to
idiopathic hypoparathyroidism, even being rare, is treatable and easy to diagnose.
J Med Case Reports. 2007 Dec 3;1:167.
Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old
man: a case report.
Tonelli AR, Kosuri K, Wei S, Chick D.
A 40-year-old man without significant past medical history presented with a new-onset generalized
tonic-clonic seizure. He had no personal history of hypocalcemia or seizures. Physical examination
was remarkable for short stature, hypertelorism, prominent forehead and nasal voice
Trousseau's and Chvostek's signs were absent. His initial
laboratory examination showed hypocalcemia (Calcium 5.2 mg/dl and Calcium ionized 0.69 mmol/l)
with hypoparathyroidism (Parathyroid hormone intact < 2.5 pg/ml. NV: 14-72 pg/ml). Urine Calcium
was 3 mg/dl on a spot and 88 mg in a 24-hour urine collection (NV: 100-300 mg/24 hs). The
electrocardiogram showed a prolonged corrected QT interval. Echocardiogram, abdominal
ultrasound and electroencephalogram were normal. A computer tomography of the brain showed
basal ganglia calcification. The subtle physical findings and the presence of idiopathic
hypoparathyroidism motivated the performance of fluorescent in situ hybridization which
demonstrated a microdeletion on one of the homologs 22q11.2. The patient was treated with
calcium citrate and calcitriol with good response.
[Idiopathic hypoparathyroidism, a syndrome with various clinical expressions: analysis of 10
Rev Med Chil. 1989 Jun;117(6):647-52.

We report 10 patients with primary hypoparathyroidism. Age at onset varied from 7 months to 52
years (mean 28); 7 were female. Diagnosis was established at a mean of 4.1 years after the
appearance of clinical manifestations. Unexplained hypocalcemia (mean 5.3 mg/dl) and
hyperphosphatemia (mean 6.4 mg/dl) were present in all patients. Prevalent symptoms included
tetany (9 patients), seizures (5) and hypocalcemic cataracts (4).
manifestations may be grouped into 5 types 1) tetany; 2)
seizures; 3) other neurologic disorders (basal ganglia calcification,
pseudotumor of the brain, ataxia, nystagmus, hypertonus, paresis); 4) disorders of the lens
including fully developed cataracts and 5) skin alterations like psoriasis and others. Some of these
run on acute course (seizures, tetany), others a subacute one (skin alterations) while others are
rather chronic (cataract and other neurologic disorders). Seizures and electroencephalographic
disorders predominate in younger patients while tetany is more prevalent in older subjects.
The Journal of Clinical Endocrinology & Metabolism Vol. 88, No. 4 1476-1477 , 2003
Calcification of the Basal Ganglia in Chronic Hypoparathyroidism
An 80-yr-old man with a more than 60-yr history of postsurgical hypoparathyroidism was evaluated
for hypocalcemia detected during hospitalization after a fall. The patient had long-standing
intermittent paresthesias in his distal extremities, but denied muscle cramps, tetany, or seizures.
His past medical history was remarkable for an episode of nephrolithiasis in his 20s. He had been
. On
taking up to 4000 mg calcium carbonate (oral, daily) before admission
examination, Chvostek and Trousseau signs, tremor,
and rigidity were absent. Laboratory studies included: 5.9 mg/dl serum
calcium (normal range, 8.410.5), 0.78 mmol/liter ionized calcium (normal range, 1.131.32), 6.7
mg/dl phosphate (normal range, 2.74.5), 3.2 g/dl albumin (normal range, 3.55.3), and 1 pg/ml
intact PTH (normal range, 1065). In Fig. 1, brain computed tomography showed diffuse, symmetric
parenchymal calcifications involving the dentate nuclei (A), thalami (B, curved arrow), globus palladi
(B, arrowhead), caudate heads (B, straight arrow), and deep cerebral white matter (C). The patient
was treated with 0.5 g calcitriol and 1000 mg calcium carbonate (oral, daily). After 1 week, his
chronic paresthesias resolved and serum calcium rose to 9.2 mg/dl.
Absence of Basal Ganglia calcification
Upto 30 % of cases of Hypocalcemia have
basal ganglia calcification
Birth anoxia
Idiopathic (most common)
bilateral and symmetrical

Toxoplasmosis / CMV - usually

not limited to basal ganglia

Hypoparathyroidism /

Fahr syndrome
Cockayne syndrome
Garg R, Garg N, Tandon N, Khurana ML, Ammini AC. Idiopathic
hypoparathyroidism presenting as epilepsy in a 40 years female. Neurol
India 1999;47:244
The patient was a 40 year old female who complained of generalized tonic
clonic seizures for the last 4 years. The seizures used to occur once in
every 2-3 months. positive Chvostek's and Trousseau's signs. Nervous
system examination was normal. Investigations revealed a serum calcium
level of 6.4 mg/dl (normal - 8.5-10.5 mg/dl) and serum phosphate level of
6.4 mg/dl (normal - 2.5-4.5 mg/dl). Serum albumin was 4.0 G/dl (normal -
3.8-4.0 G/dl) and renal function tests were normal. Serum alkaline
phosphatase level was 8.8 KA units (normal - 3-13 KA units). Serum
parathyroid hormone levels were 28 pg/ml (normal - 11-55 pg/ml) which
were inappropriately low in the presence of hypocalcaemia. Plasma
cortisol, thyroxin and gonadotropins were within normal range. EEG
showed generalized spike and wave pattern. CT scan of the head
was normal.
Idiopathic hypoparathyroidism presenting as
D Eraut
Br Med J. 1974 March 9; 1(5905): 429430.
PMCID: PMC1633226
Summary: 80 yr old male
Difference of treatment
1.High dose of vitamin D ( 20000 IU /day ) (
100-120 times the RDA of Vit D )
Why ?
2.High dose of oral Calcium
3.Monitoring of urinary Ca to avoid the risk of
Prophylactic use of Thiazide
Final Diagnosis :
Hypocalcemia induced seizures
Mostly Idiopathic variety
Hereditary hypoparathyroidism
May occur without any other endocrinological and
dermatological manifestations.
Manifest within first decade or later.
Syndrome associated with hypopara thyroidism
Di George syndrome[ DSG1-chromosome-22. DSG1-
Kenney- Caffey syndrome: hypo parathyroidism, short
stature, osteo sclerosis, thick cortical bones.
Sanjad-Sakati synd: growth failure and dysmorphic
Basal ganglia calcification and extra pyramidal symptoms
are more common and earlier in onset.
Poly glandular auto immune type-1 deficiency:
Mutation in APECED GENE.
childhood onset.
Disease association: muco cuateneous candidiasis,
hypo parathyroidism, adrenal insufficiency,
hypogonadism, alopecia, hypothyroidism, dental
enamel hypoplasia, mal absorption, vitiligo,
chronic active hepatitis, pernicious anemia.
Kearns - Sayre and MELAS syndrome
AD- hypocalacemic hypercalciuria:
Abnormality in calcium sensing receptor.
Receptor senses normal calcium level as
excessive and suppresses pth secretion.
Increased renal excretion of calcium.
External calcium and vit-D supplements
exacerbate the symptoms leading to
irreversible renal damage due to renal stones
or ectopic calcifications.
Acquired hypoparathyroidism
Surgery- para thyroidectomy for hyper para
Irradiation .
Calcium Regulation
99% of body calcium in skeleton
Miscible Pool: 40% bound to protein, 13%
complexed w/ anions, 47% free ionized
PTH: Increased Ca, Decreased PO4, Increased
Vitamin D
Vitamin D: Increased Ca, Increased PO4,
Decreased PTH (slow)
Kidney, Bones, GI Tract
Acute Hypocalcemia: Parathyroidectomy
PTH undetectable at 8 hours
Normalizes by 30 hours
Calcium nadir at 20 hours, normal Day 2-3
Hungry bone syndrome Old, Labs
Medications: I-131, Cimetidine, ETOH, Cisplatin,
Digoxin, Ampho-B
Neuro: Paresthesias, fasciculations, muscle
spasm, tetany, irritability, movement disorder,
SEIZURE, laryngeal spasm.
Visual: Cataracts, optic neuritis, papilledema- in
association with increased ict
Pulmonary: Bronchospasm
CV: Prolonged QT, CHF, Hypotension, digitalis
effect may be reduced.
GI: Dysphagia, abdominal pain, biliary colic
GU: Preterm labor
Psychiatric- depression, psychosis.
Chvosteks sign and trousseaus sgn can be used
latent tetany.
Hypoparathyroidism: Treatment
Acute severe hypocalcemia
Check ionized Ca
100-300 mg (10-30 ml) 10% Ca-gluconate in 150
cc D5W over 10 minutes
Continuous infusion at 0.5 mg/kg/hr
EKG monitoring
Check Magnesium
Check Phosphorous
Hypoparathyroidism: Treatment
Vitamin-D - 40000 to 1,20,000 iu/day[ 1-3
mg /day] combined with elemental calcium is
Calcitriol- 0.5 to 1 micro gram/day.
They do not reverse the lowered urinary
calcium reabsorption.
Thiazide diuretics lower urinary calcium in
hypoparathyroid pts on vit-D.
Levels less than 0.4 mmol/l[ 0.8 meq/l]
Reduced PTH secretion or reduced response to
Severe hypomagnesemia is paradoxically
associated with low PTH level. Cause unknown.
Serum phosphate levels are usually not elevated.
When magnesium is repleted restoration of PTH
levels may preceed serum calcium by several
Treatment- IV magnesium.
PTH overwhelmed
Loss of ca from ECF is so severe that PTH
cannot compensate.
Acute hyper phosphatemia- due to cell
destruction, tissue damage.
Renal failure.
PTH raises in response to hypocalcemia but
serum calcium do not return to normal.
Differential diagnosis of hypoclcemia
Low calcium, high phosphate-
hypoparathroidism, psudo
Low calcium, low phosphate-absent or
ineffective vitamin D.
Hypo magnesemia.
Nutritional deficiency in alcohol.