Sarcoglycanopathy: clinical and histochemical characteristics in 66 patients.

BACKGROUND: Sarcoglycanopathies are a group or autosomal recessive muscular dystrophies designated as α, ß, γ, or δ sarcogycanopathy. MATERIALS AND METHODS: It is a retrospective analysis of case series. RESULTS: Sixty six patients immunohistochemically confirmed to have sarcoglycan deficiency were included in the analysis. The study period extended from 1997-2008. The male to female ratio was 1.5:1. Mean age at the onset of muscle complaints was 6.2±3.7 years (range 1-18). Mean age at evaluation was 10.0±4.8 years (range 3-31). Mean duration of illness was 47.02±44.80 months (range 3-325). Onset in the first decade was seen in 59 (89.4%) and 25 (42.4%) of these had onset before five years of age. The remaining seven (10.6%) had onset in second decade and none after 20 years of age. Consanguinity was present in 54 (81.8%). In 34 of 66 cases only a-SG was carried out and this had shown total absence of staining in all fibers. In the remaining 32 cases where the entire panel was performed, absence of all sarcoglycans was noted in 10 (15.1%), isolated α-SG deficiency in 7 (10.6%), isolated ß-SG deficiency in 6 (9.1%), and isolated γ-SG deficiency in 3 (4.5%). Combination deficiency was also observed: absence of α and ß (n=4), ß and γ (n=2), and α and γ (n=1). CONCLUSIONS: Our series was a large series and with predominantly pediatric age group. Sarcoglycanopathy should be particularly suspected in a child born to consanguineous parents and who presents with proximal muscle weakness and calf hypertrophy, elevated CK level, and myopathic pattern on EMG.

NEUROCYSTICERCOSIS - A CLINICOPATHOLOGICAL APPRAISAL.

Neurocysticercosis is the most common parasitic disease affecting the human central nervous system, with protean clinical manifestations. During the last 17 years, 153 cases of neurocysticercosis were histopathologically diagnosed on surgically resected and autopsied material. Variable number of cysts, from a solitary one to multiple were found invading different parts of the neuraxis (118 cases). These cestode larval forms had a prediliction for locating in the cerebral grey matter (98 cases), followed by subcortical nuclear area (12), cerebral ventricles and subarachnoid cisterns (26 cases). Patients harbouring parenchymal cysts manifested predominantly with seizures and encephalitis (113 cases) whereas those with ventricular and/or cisternal cysts presented with features of chronic meningitis and hydrocephalus. The unusual clinical presentations were psychiatric symptoms with behavioural abnormalities and stroke in the young as a result of cysticercal meningitis with associated arteritis. Primary cysticercal abscess in the brain parenchyma was an interesting pathological feature noted in 3 cases. In the endemic areas, the co-existence of neurocysticercosis appears to enhance the morbidity and mortality due to Japanese encephalitis (31 cases). The surface glycoprotein of the cysticercal cyst has been identified to be the antigenic component to which the host immune system responds by forming antibody in the CSF.