Neuro 1

Cranial CT and B. MRI showing bilateral posterior subdurals and prominent frontal extra-axial fl uid collections.

Neuro 2

Cranial CT with bilateral shallow interhemispheric acute subdural haematomas and normal brain parenchyma.

Neuro 3

Cranial CT showing small volume interhemispheric blood and reduced attenuation of hemispheres with reversal sign (cerebellum higher attenuation than hemispheres).

Case study

A 9 year old Asian girl presented with a 2 week history of fever. There had initially been some diarrhoea, without vomiting, which had resolved after 3 days. There was no signifi cant previous history and no history of recent foreign travel. On examination she was systemically unwell with a fever of 40 C. There was a faint pink non-pruritic macular rash involving the face and trunk and reddish macules on the fi ngers and toes. Generalized lymphadenopathy was evident but no organomegaly
Investigations: FBC Hb 8.9 g/dL, WCC 3.7 109 /L, with lymphopaenia and thrombocytopaenia, platelets 96 x 109/L ESR 126 mm/h, CRP 87 mg/dL.

Blood cultures: grew Salmonella enteriditis at 24 h Urinalysis: proteinuria + and haematuria ++ on dipstick testing. What is the differential diagnosis?

The most likely diagnosis is SLE. There is a well established association between SLE and non-typhoidal salmonellosis. Although this occurs most often in patients with active disease on intensifi ed immunosuppression, Salmonella bacteraemia can occur at first presentation. It is hypothesized that patients with SLE have a specific immune defect predisposing to invasive disease. What would you expect on her autoimmune screen? She had strongly positive ANA and positive anti-dsDNA antibodies. She was ant-Ro and anti-La positive. There was marked hypocomplementaemia. The uncharacteristically raised CRP was ascribed to her bacteraemia. She went on to develop severe lupus nephritis and required treatment with hydroxychloroquine and mycophenolate mofetil. Subsequently her general disease became active, especially in the skin. This was treated with rituximab.

SLE: A. Butterfly malar facial rash. B. Truncal rash.

Hip ultrasound scan: A. Normal. B. Joint effusion.

Hip ultrasound is sensitive for detection of an intracapsular effusion with capsular distension >2 mm (Fig 16.12). An effusion is nearly always present in TS, but ultrasound scan cannot reliably distinguish between TS and septic arthritis. Absence of an effusion should prompt a continued search for the source of the pain.

Rheumatology 1

Polyarticular JIA: hands.

Polyarticular JIA This may be rheumatoid factor positive or negative. Arthritis affects 5 or more joints in the fi rst 6 months. Large and small joints can be involved, often symmetrically. Polyarticular JIA, rheumatoid factor negative Affects girls more than boys with a biphasic age distribution: early peak 24 years, later peak 612 years. Up to 50% are ANA positive and at risk of uveitis: there is overlap with oligoarthritis in young females. Cervical spine and temperomandibular joint involvement is common. Investigations FBC: mild anaemia, mild neutrophil leucocytosis, moderate thrombocytosis IgM rheumatoid factor: negative ANA: positive in 2040%. The course is variable. 50% go into remission within 10 years. Recurrent episodes cause progressive deformity. Polyarticular JIA, rheumatoid factor positive. More common in girls with a peak in late childhood, >8 years or adolescence. An aggressive, symmetrical arthritis affects particularly the small joints of the wrists, hands (Fig 16.10), ankles, and feet. Knees and hips involved early with elbows and other joints later. The pattern is similar to adult rheumatoid arthritis. Rarely, rheumatoid nodules occur on pressure points and vasculitis may cause nail fold lesions. Investigations FBC: moderate anaemia, ESR: elevated. ANA: might be positive. HLA DR4 associated. Prognosis is poor, with severe joint destruction.

Rheumatology 2

Oligoarticular JIA most commonly affects girls <6 years and is the most common and well-defined subtype. Arthritis affects 14 joints during the 1st 6 months, usually involving the lower limbs joints, knee (Fig 16.9), and ankle. The disease may be limited, persisting in <4 joints or extended if five or more joints are affected after 6 months. An important feature is anterior uveitis which may be silent and sight threatening. It usually develops in the first 4 years and 3 monthly slit-lamp examination in the 1st 2 years is mandatory. Antinuclear antibodies (ANA) are often present and associated with uveitis.

Systemic-onset SLE

Systemic-onset JIA (SOJIA) SOJIA affects males and females equally and occurs throughout childhood, most commonly at age 15 years. The characteristic presenting features include: Fever: quotidian with 12 spikes >38.5 C per day Rash: evanescent, salmon pink, non-pruritic rash on trunk and extremities (Fig 16.8) Arthralgia: symmetrical, affecting one or several joints. Frank joint swelling may not occur for months after onset. Additional features include lymphadenopathy, dermographism, hepatosplenomegaly, and anaemia. Serositis may occur and manifest as pericarditis or abdominal pain.

Rickets: A. Rickety rosary and Harrison groove.

B.Metaphyseal expansion at wrist

Rickets is often asymptomatic and a high index of clinical suspicion should be maintained in infants at risk. Rarely, an acute infection may precipitate hypocalcaemia and tetany as a presenting manifestation. The clinical stigmata depend on the stage of evolution and severity. Skeletal Skull: frontal bossing and softening of the skull bones, especially along suture lines, craniotabes. Delayed closure of anterior fontanelle and wide sutures. Thorax: expansion at the costo-chondral junctions causes a rickety rosary. Harrisons grooves, pectus carinatum, and kyphoscoliosis develop. Limbs: fl ared metaphyses apparent at distal radius at wrist, femur at the knee and tibia causing double malleoli at the ankle. Weight-bearing causes bow legs or knock knees. Short stature develops. Muscular: generalized hypotonia with delayed walking Nervous system: irritability, tetany, apathy.

Rickets: radiological signs. A. Thorax: expansion of costochondral junctions. B. Wrist: flaring and cupping of metaphyses.

A plain radiograph of the knee showing metaphyseal ends and epiphyses of the femur and tibia is the best single view in children <3 years. Growth is most rapid at this site, accentuating any changes. Flared, broadened and cupped metaphyses are apparent , together with generalized osteopaenia and coarsening of trabeculae.

Achondroplasia. Sagittal T1 MRI: large cranial vault, small skull base, cervico-medullary kink, large suprasellar cistern.

Imaging: a skeletal survey at birth confirms the diagnosis. The features include: large calvarium with narrow foramen and small skull base vertebral bodies short with wide intervertebral discs, square-shaped long bones, irregular growth plates hands: broad short metacarpals and phalanges and trident configuration.

Perthes disease: unilateral left sided. Plain radiography of the pelvis with AP and frog lateral views is the modality of choice.However, radiographs may be normal in early symptomatic disease. Bone scan is more sensitive in the early case. MRI is equally sensitive and allows more precise localization of involvement.

DDH: delayed ossifi cation of femoral head and increased slope of acetabulum on right side at age 2 years with subluxation of the joint.
Hip ultrasound scan is indicated if an abnormal hip is suspected on newborn examination or in at risk infants. After 46 months an AP pelvic radiograph is the optimal investigation. This may reveal delay in ossification of the femoral head, a broken Shentons line and increased acetabular slope.

Congenital talipes equinovarus. In this deformity of the foot and ankle (talipes, Latin talus = ankle + pes= foot), also called club foot, the foot is held in a rigid equinovarus position. The foot is inverted and supinated and the forefoot is adducted. The incidence is 1/1000 live births and it is more common in boys. CTEV is distinguished from positional talipes equinovarus which can be passively corrected, i.e. the foot can be fully dorsiflexed to touch the front of the lower leg. This resolves spontaneously within 612 weeks.

Management Referral is made to an orthopaedic surgeon. Early treatment improves prognosis. Conservative treatment encompasses the Ponseti technique: Manipulation and serial plaster casts. Percutaneous tenotomy of Achilles tendon under local anaesthetic at ~6 weeks. Boots and bars treatment for fi rst few years as necessary with further plastering if deformity recurs. Corrective surgery may be required at 612 months of age if there is a failure to obtain or maintain reduction of the talonavicular joint and hindfoot/forefoot alignment. Soft tissue release and realignment of joints is carried out. The prognosis for idiopathic club foot is good with a functional, pain free, supple plantigrade foot as the usual outcome. Surgery is more often required in the context of a neuromuscular disorder or syndrome and recurrent deformity is not uncommon.

Case study 2

A 7 year old girl is admitted with chickenpox. The rash developed 4 days previously and new lesions are continuing to appear. Concern has arisen on account of two painful, spreading lesions on her anterior chest wall. On examination she is systemically unwell with high-grade fever and signs of early circulatory compromise: tachycardia and prolonged peripheral CRT. Dx. And Mx.?

What diagnosis should be considered? Necrotizing fasciitis is a recognized complication of chickenpox and presents with tender erythematous mottled lesions which spread rapidly. Several factors contribute to pathogenesis. The vesicles create a full-thickness dermal lesion providing a route for bacteria to spread from the skin surface into the subcutaneous tissues. Causative organisms include GAS and Staph. aureus. What is the management? This is a life-threatening emergency requiring early aggressive surgical debridement. Immediate resuscitation and IV broad spectrum antibiotics are indicated. Preoperative MRI can be helpful in differentiating necrotizing fasciitis from cellulitis and delineating the affected tissues to aid surgical planning. However, any delay in definitive surgical treatment is inadvisable. Wound swabs grew a heavy growth of Staph. aureus and GAS. She survived after extensive surgical debridement and intensive care.

Polymorphous rash and red lips.

HSP: typical purpuric rash and distribution.

Skin: the classical rash is a palpable purpuric rash often symmetrical over the extensor, dependant surfaces of the lower limbs and buttocks. This may be preceded by urticarial or erythematous maculopapular lesions and may range from petechiae to large ecchymoses

Cutaneous leishmaniasis.

Cutaneous leishmaniasis: parasites proliferate locally leading to an erythematous papule where the bite took place, usually on an exposed area such as the face. This evolves to become a nodule and then a shallow ulcer (Fig 15.20). Satellite lesions and regional lymphadenopathy may occur. A scraping or punch biopsy sample is stained (Giemsa) for Leishman Donovan (LD) bodies.

Meningococcal septicaemia: late stage rash.

The characteristic rash is often non-specifi c initially, with a red, maculopapular appearance before evolving into the well known petechial or purpuric nonblanching rash

Acute bacterial cervical adenitis: an abscess has formed, requiring surgical drainage.

Impetigo

Tubercular meningitis: A. Bilateral dilated ventricles and meningeal enhancement. B. Hydrocephalus and cerebellar tuberculoma.

Hilar lymphadenopathy and miliary TB: CXR.

Extrapulmonary TB: cervical lymphadenopathy.

MRI showing resulting left basal ganglia infarct with oedema

HIV infection: parotid enlargement. Often associated with generalized lymphadenopathy and LIP.

Atypical or reactive lymphocytes. Large with condensed chromatin pattern in nucleus and pale blue, basophilic cytoplasm. Seen in EBV infection and also CMV, toxoplasmosis, viral hepatitis, and streptococcal infection.

Chickenpox rash: lesions at different stages.

Varicella zoster: shingles of right thoracic dermatome.

Measles

SCID: PCP

Pg 306