Dr. Dheeraj Rai

Wilson disease is a rare heredodegenerative inborn error of copper metabolism with varied neuropsychiatric, hepatic and other manifestations. Here we report a case of Wilson disease with neurological manifestations in a 7-year-old girl with concurrent asymptomatic liver involvement and characteristic radiological findings of signal intensity alterations in bilateral striata and thalami along with changes in central pons too like central pontine myelinolysis (CPM), which is of rare occurrence.

Isolated ptosis is a rare presentation of neurocysticercosis (NCC). Here we report the case of a 45-year-old woman who presented with acute onset bilateral symmetrical ptosis with no other neurological deficit. Her imaging revealed a single cystic ring-enhancing lesion with perilesional oedema in the midbrain suggestive of NCC. She responded well to prednisolone.

Subacute sclerosing panencephalitis (SSPE) is a slowly progressive inflammatory disease of the central nervous system caused by a persistent measles virus usually affecting the childhood and adolescent age group. Clinical features at onset are very subtle and non-specific. Certain atypical features can occur at onset or during the course of illness which can be misleading. Neuroimaging features often are non-specific. Features like myoclonic jerks, cognitive decline and typical EEG findings lead to a strong suspicion of SSPE. Here, we describe the stagewise progression of a case of SSPE in a 14-year-old girl who had myoclonic jerks and cognitive decline at onset. During the course of disease, the patient developed cortical vision loss, atypical extrapyramidal features like segmental and hemifacial dystonia ultimately leading to a bedbound vegetative state. EEG showed typical periodic discharges along with positive cerebrospinal fluid serology for measles.