PURPOSE: To describe imaging findings and their neuropathologic correlate in patients with
cerebrotendinous xanthomatosis (CTX). MATERIALS AND METHODS: Computed …

The last 2 decades have seen enormous strides in our understanding of the biological,
genetic and clinical basis of the peripheral nerve disorders. This remains a difficult area for …

X-linked adrenoleukodystrophy (XALD) is a genetically determined disorder that mainly
involves the adrenal cortex and white matter structures of the CNS. Inheritance is X-linked …

A case of adrenoleukodystrophy (ALD) with CT and MRI findings is described. The CT scand
showed low densities in the white matter of the parietal and occipital lobes. No calcifications …

A 31-year-old man with an unremarkable family history presented with progressive motor
dysfunction, cognitive impairment, emotional incontinence, dysphagia, dysarthria, and left …

Congenital anomalies of the spinal cord can pose a diagnostic dilemma to the radiologist.
Several classification systems of these anomalies exist. Antenatal ultrasound and fetal …

This paper gives a description of the essential neuropathological techniques applied to the
study of metabolic disorders affecting the nervous system. Subsequently, the …

Discussion. The olivopontocerebellar form accounts for only 1% to 2% of all cases of ALD.
Few reported patients have been followed up by serial imaging to identify and characterize …

We report two cases of unrelated female heterozygotes for adrenoleukodystrophy (ALD)
who have developed progressive neurological disease. Both presented with a progressive …

Objectives: To report the simultaneous occurrence of generalised spinal cord atrophy, Chiari-
I malformation, and syringomyelia. Setting: Vienna, Austria. Case description: An 83-year old …