Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.

Maple syrup urine disease is a disorder of branched-chain keto acid metabolism. Three children were diagnosed with the intermediate form of maple syrup urine disease during routine evaluation of mental retardation. Clinical features were characterized by mental retardation, seizures, autistic features, and movement disorder in the form of dystonia. High-performance liquid chromatography of the urine and serum revealed elevated levels of branched-chain amino acids, suggesting a diagnosis of maple syrup urine disease. Magnetic resonance imaging showed diffuse hyperintense signals in the white matter along with involvement of the thalami and globus pallidus. Magnetic resonance imaging in the intermediate form showed myelination in the posterior limb of the internal capsule, in contrast to the classic form of the disease. Knowledge about the neuroimaging findings of this rare disease will help to narrow down the differential diagnosis when evaluating children with unexplained mental retardation and seizures.

Clinical heterogeneity in Hallervorden-Spatz syndrome: a clinicoradiological study in 13 patients from South India.

Hallervorden-Spatz syndrome (HSS) is a rare autosomal recessive neurodegenerative disorder of childhood. Thirteen patients with this syndrome seen over a period of 7 years were reviewed. Two distinct groups were identified. The early onset childhood group had uniform presentation with developmental delay, recurrent falls, gait abnormalities, cognitive deterioration and dystonia. This group was also characterised by familial incidence, retinal involvement and absence of behavioural problems. Late onset group, included patients with different presentations such as behavioural changes, optic atrophy and dystonia. Consanguinity was prominent in this study, being present in 61.5% patients. MRI (n=11) showed pallidal hyperintensity on T1-weighted images and hypointensity or 'eye of the tiger' sign on T2-weighted images. Two patients had acanthocytes in peripheral blood smear. This study emphasizes the phenotypic heterogeneity in HSS and as well brings out the common features shared by patients with early onset disease.