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Biotinidase deficiency is a metabolic disorder characterized by inability to recycle biotin with resultant delayed myelination. Clinical findings include seizures, ataxia, alopecia and dermatitis with atypical findings of myoclonic jerks, neuropathy and spastic paraparesis. Neuroradiological findings include cerebral atrophy, encephalopathy and widened(More)
Pantothenate kinase-associated neurodegeneration (PKAN) is an uncommon extrapyramidal movement disorder characterized by the progressive incapacitating dystonia. Medical management is often incapable of reversing the dystonic symptoms. In recent years, stereotactic procedure like deep brain stimulation has been found effective in resolving the disabling(More)
Cyclical vomiting syndrome is a paroxysmal, condition characterized by recurrent severe episodes of vomiting lasting for hours to days, with variable intervals of normal health in between with no apparent cause of the vomiting. We hereby report a 10 yr old girl with cyclical vomiting syndrome with multiple, bisynchronous occipitally predominant, bilateral(More)
Superficial siderosis of the central nervous system results from deposition of hemosiderin in the subpial layers of the brain and spinal cord. Patients usually present after 40 years of age with progressive ataxia and sensorineural hearing impairment. We present the case of a twelve-year-old boy who had a surgery of the posterior fossa at the age of two(More)
BACKGROUND Transferrin, a major glycoprotein has different isoforms depending on the number of sialic acid residues present on its oligosaccharide chain. Genetic variants of transferrin as well as the primary (CDG) & secondary glycosylation defects lead to an altered transferrin pattern. Isoform analysis methods are based on charge/mass variations. We aimed(More)
"Autism Spectrum Disorders" (ASDs) are neurodevelopment disorders and are characterized by persistent impairments in reciprocal social interaction and communication. Sleep problems in ASD, are a prominent feature that have an impact on social interaction, day to day life, academic achievement, and have been correlated with increased maternal stress and(More)
INTRODUCTION Ataxia telangiectasia (AT) is a neurodegenerative disorder with cerebellar and extrapyramidal features. Interventional and epidemiological studies in AT should rely on specific scales which encompass the specific neurological features, as well the early progressive course and the subsequent plateau. The aim of this study was to build a scale of(More)