Our patient was worked up for mild developmental delay associated with focal scalp alopecia at age 6, and was diagnosed with encephalocraniocutaneous lipomatosis (also known as Haberland or Fishman syndrome), a rare neurocutaneous syndrome characterized by skin lesions (most commonly focal alopecia with or without underlying lipoma), ocular lesions, and CNS anomalies. CNS anomalies are usually ...

Congenital lesions of a cerebral hemisphere may involve its optic tract primarily or trans-synaptically. Such lesions produce a distinctive retrograde hypoplasia in each optic nerve and retina (Fig. I, overleaf) which we have identified ophthalmoscopically and have named homonymous hemioptic hypoplasia. This report describes and illustrates fundoscopic features of this neuro-ophthalmological an...

Sturge-Weber syndrome is a neurocutaneous condition characterized by nevus of the face in the territory of one or more divisions of the trigeminal nerve on the same side as the cerebral lesion, intracranial calcifications , convulsive disorders, glaucoma, hemiparesis, hemiatrophy, and mental deficiency. In 1987, Chaudary and Brudnicki (1] described a case of Sturge-Weber syndrome in which intra...

INTRODUCTION There are sporadic reports of unilateral polymicrogyria with ipsilateral hemiatrophic cerebri associated with epilepsy, focal neurological deficit and mental retardation. The mechanisms which cause this condition are not well understood. The aim of our study was to delineate further, clinical and neuroimaging features of this malformation of cortical development and to explore its ...

Scleroderma rarely presents as total hemiatrophy of one side of the body. A 63-year-old patient is discussed with progressive facial hemiatrophy and with atrophy of skin, subcutaneous tissue, muscle and bone tissue of one side of the body, complicated by ocular and neurological manifestations.

To cite: Furruqh F, Thirunavukarasu S, Biswas A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212256 DESCRIPTION A 30-year-old man presented with generalised status epilepticus. Initial brain CT was normal (figure 1). His generalised seizures were controlled with antiepileptics. However, he continued to have left focal seizures. An MRI was performed ...

PURPOSE To describe MR and CT features of germinoma originating in the basal ganglia and thalamus and to discuss the roles of each modality for its diagnosis. METHODS MR and CT studies of six cases of germinomas, five of which were histologically proved, were retrospectively reviewed. T1-weighted, T2-weighted, and contrast-enhanced T1-weighted conventional spin-echo images, and unenhanced and...