BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX). CASE PRESENTATION A 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and "onion-like demye...

A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.

This study examined the effect of sensory feedback (e.g., flashing lights and sound) on the imitation performance of children with autism and typical children group-matched for mental age. Participants were administered an immediate object-imitation task with six novel toys constructed for this study: three with a sensory effect that could be activated by imitating the modeled action and three ...

CONTEXT AND OBJECTIVE Lhermitte's sign, a classical neurological sign, is a rare manifestation of vitamin B12 deficiency. The aim here was to report on a case of an elderly patient with vitamin B12 deficiency whose first clinical manifestation was the presence of Lhermitte's sign. CASE REPORT We describe an elderly patient with vitamin B12 deficiency who presented cognitive dysfunction, perip...

Microscopic polyangiitis (MPA) is a systemic small vessel vasculitis that is included in the pulmonary-renal syndromes. Although glomerulonephritis represents the major clinical feature of MPA indicative of renal involvement, diffuse alveolar haemorrhage is the classic manifestation of pulmonary involvement. However, pulmonary fibrosis is a less frequently reported pulmonary manifestation. Here...

The author studied 133, 856 admissions over a ten-year period and found 138 cases of primary tumors of bone. Of these only 33 were multiple myeloma. Incidence, clinical manifestation, age, sex and etiology are reported, and the effect of four different chemotherapy regimens are evaluated.