Search

Background and Aims: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder due to mutations in the SLC19A3-gene, typically seen in early childhood.Materials and Methods: We report a 49-year-old lady presenting with rapidly progressive cognitive impairment, seizures, hypersomnolence, ataxia, and generalized dystonia of 3 weeks duration. The magnetic resonance imaging (MRI) of the brain revealed T2-hyperintensities in the basal ganglia, thalamus, cortical, subcortical regions with striatal necrosis suggestive of BTBGD that was confirmed by genetic analysis. She was treated with thiamine and biotin following which there was significant clinical and MRI improvement.Conclusions: BTBGD requires a high index of suspicion in any patient presenting with unexplained rapidly progressive dementia. High doses of biotin and thiamine are the mainstay of the treatment to achieve a favorable outcome. [ABSTRACT FROM AUTHOR]

Background and aims: Myelin oligodendrocyte glycoprotein (MOG) is an oligodendrocytopathy resulting in demyelination. We aimed to determine the frequency of MOG-associated disorders (MOGAD), its various clinical phenotypes, and imaging characteristics. Methods: All patients with MOGAD were included. Description of the various clinical phenotypes, investigation profile, therapeutic response, differences between pediatric and adult-onset neurological disorders, determination of poor prognostic factors was done. Results: The study population consisted of 93 (M:F = 45:48) (Pediatric:40, Adult-onset:47, Late-onset:7) patients with a median age of 21 years. Among the 263 demyelinating episodes; 45.8% were optic neuritis (ON), 22.8% were myelopathy, 17.1% were brainstem, 7.6% were acute demyelinating encephalomyelitis(ADEM), 4.2% were opticomyelopathy and 2.3% with cerebral manifestations. There was exclusive vomiting in 24.7% prior to onset of clinical syndrome, none of them had area postrema involvement. ADEM was exclusively seen in pediatric patients. Poor prognostic indicators included: (i) incomplete recovery from an acute attack, (b) brainstem syndrome, (c) ADEM with incomplete recovery, (d) MRI suggestive of leukodystrophy pattern, (e) severe ON, (f) ADEMON. Conclusions: The Spectrum of MOG-associated disorders is wider affecting the brain (grey and white matter) and the meninges. There are various clinical phenotypes and MRI patterns, recognition of which may help in the determination of therapeutic strategies, and long-term prognosis. [ABSTRACT FROM AUTHOR]

Porencephalic cyst is quite a rare entity in adults with only a few cases reported so far. It is usually congenital and seen in neonates. Here, we report a 28-year-old female who presented with post-ictal confusion following a new onset of focal seizures with secondary generalisation. She was diagnosed to have porencephalic cyst in left posterior parietal lobe on brain imaging. She was started on antiepileptic drugs and is on follow-up. [ABSTRACT FROM AUTHOR]