Autosomal recessive limb girdle myasthenia in two sisters.

Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sisters affected by this disorder is presented.

Primary angiitis of the central nervous system: an ante-mortem diagnosis.

A rare case of primary angiitis of the central nervous system (PACNS) is reported with its clinical and magnetic resonance imaging (MRI) features. A 20-year-old girl presented with headache, projectile vomiting, unsteadiness of gait and urgency of micturition. She had left seventh nerve upper motor neuron type paresis, increased tone in all four limbs, exaggerated deep tendon reflexes, cerebellar signs, and papilloedema. Cerebrospinal fluid showed lymphocytosis with elevated protein and normal glucose level. Cerebral computerised tomographic scan and MRI showed bilateral diffuse asymmetric supra- and infra-tentorial lesions (predominantly in the supratentorial and left cerebrum). On MRI, the lesions were hyperintense on T2, and proton density-weighted images and hypointense on T1-weighted images. Based on the clinical findings of raised intracranial tension and MRI features, initial diagnoses of gliomatosis cerebrii, tuberculous meningitis, primary central nervous system lymphoma and chronic viral encephalitis were considered. PACNS was not included in the initial differentials and, an open brain biopsy was advised which established the definitive diagnosis.

Acute intestinal obstruction.

Nine hundred and four children with intestinal obstruction were studied. Necrotising enteritis was the commonest cause of intestinal obstruction in children. Acute intussusception was the second commonest cause in the whole group and the commonest cause in children under 1 year of age. Less common causes included band obstruction, sub acute intestinal obstruction and remnants of vitello-intestinal duct. A steady and significant improvement in the results of treatment was noted in children suffering from necrotising enteritis in the study period.

Asymptomatic bacteriuria in school children.

We studied 2447 asymptomatic school children by microscopic examination of urine and culture of a clear voided midstream specimen of urine. Only three children had bacteriuria (0.12%). Urographic abnormalities were detected in both the cases, which could be investigated. This study has shown that asymptomatic bacteriuria is comparatively rare in our community; however where there is bacteriuria, renal damage is common.