Acute disseminated encephalomyelitis.

The authors report 6 children with the diagnosis of acute disseminated encephalomyelitis. Diagnosis was based on clinical and radiological findings. The most common presenting symptoms were fever and disturbed consciousness, followed by cranial nerve abnormalities and pyramidal signs. Brain MRI showed hyperintense signals on T2-weighted images, most commonly in the subcortical and periventricular white matter, brainstem, basal ganglia and thalamus. The lesions were bilateral, asymmetrical and highly variable in size and number. A preceding infection was present in 3 of 6 children. Early high-dose corticosteroids were given to all the patients. All patients recovered clinically. Follow-up ranged from 10 months to 2 years. No relapses were observed during this period. Early high-dose steroid therapy seems to be an effective treatment in acute disseminated encephalomyelitis.

Tuberous sclerosis with hypothyroidism and precocious puberty.

Tuberous sclerosis complex has been associated though infrequently, with abnormalities in the endocrine tissues. Alterations in thyroid function, in patients with tuberous sclerosis have been reported rarely. We report a patient with tuberous sclerosis complex who presented with hypothyroidism and precocious puberty.

Budd-Chiari syndrome due to antithrombin III deficiency.

Budd-Chiari syndrome is a disease complex with varied etiology and is one of the causes of post-hepatic portal hypertension. We report a 2 year-old boy who presented with Budd-Chiari syndrome due to congenital antithrombin III deficiency, who was managed with an expandable metal stent placed in the inferior vena cava and oral anticoagulation.

Achalasia--alacrima--ACTH insensitivity syndrome (Triple A syndrome).

Triple A syndrome is characterized by achalasia of the cardia, alacrima, adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency and progressive neurological abnormalities including autonomic nervous dysfunction. An 8-year-old girl presented to the pediatric intensive care unit with sudden loss of consciousness and was diagnosed subsequently to have this condition. The authors present this condition since it is easily treatable and can be fatal if undiagnosed.

Medullary sponge kidney.

Medullary sponge kidney is a benign asymptomatic developmental anomaly of the kidney mostly seen in adult females. Presentation in childhood is uncommon. Urinary tract infection, nephrolithiasis, hematuria and hypercalciuria are the common complications. We report a eleven-year-old female child who presented with recurrent urinary tract infection and nephrolithiasis and was found to have bilateral medullary sponge kidney.

Staphylococcal scalded skin syndrome.

Staphylococcal Scalded Skin Syndrome (SSSS) is a disease primarily of young children, characterized by exfoliative dermatitis caused by exfoliative toxin producing Staphylococcus aureus. We had three cases of SSSS with varied dermatological manifestations-diffuse/scarlitiniform erythema, generalized exfoliation, sand paper skin texture, flaccid bullae, erosions, seborrheic dermatitis like scaling and cracking in skin creases which can be confused with other skin conditions. Hence, a high index of suspicion, early diagnosis and prompt treatment is imperative.

Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine.

Recent studies have demonstrated a role for calcium channel blocking agents in the treatment of persistent hyperinsulinemic hypoglycemia of infancy. We report a 30 day old infant with PHHI whom we successfully treated with oral nifedipine alone.

The congenital long QT syndrome.

OBJECTIVE: The long QT syndrome (LQTS) is a disorder of the electrical system of the heart, due to dysfunction of the ion channels and involving the repolarisation process. The inherited form occurs when there is a mutation in one of the genes which encode the making of a channel. Prolongation of the QT interval renders the patient vulnerable to an arrythmia called torsade de pointes, resulting in syncope and sudden death. METHODS: Three children with the congenital long QT syndrome presented to the pediatric department, one of them also having a 2:1 atrio-ventricular block. The parents and siblings of these children were screened for the long QT syndrome with an electrocardiogram. 2D echocardiography was done to rule out structural abnormalities and audiometry for deafness. RESULTS: Four family members were identified on screening to have LQTS. Propranolol was started on all children with LQTS. The child with heart block also received a pacemaker. LQTS must be considered in all patients presenting with syncope especially if associated with deafness and/or a family history of sudden deaths in infancy or childhood. CONCLUSION: The corrected QT interval must be determined in all children with heart block since the two conditions are often associated.