Seven patients with cerebrotendinous xanthomatosis (CTX) were studied by electrophysiological techniques. The percentages of abnormalities detected in nerve conduction studies and electroencephalograms were 28-6% (two patients) and 100%, respectively.
Patients and methodsElectrophysiological studies were performed in seven patients (six men and one woman) whose ages ranged from 35 to 50 (mean 40 3 years). The diagnosis of CTX was established from clinical manifestations and biochemical abnormalities. The subjects in cases 3 and 4 were siblings; the others were sporadic cases. The clinical features of and laboratory findings in patients will be described in detail in a separate report."' We also examined two heterozygote subjects (the mothers of the patients in cases 3 and 4 and in case 5), who showed no clinical manifestations. Serum cholesterol and cholestanol concentrations were determined by high performance liquid chromatography,'2 and the ratio of cholestanol to cholesterol concentration (%) was calculated. The ratio was raised in patients with CTX (1-93 (0-78)) compared with normal controls (0 15 (0-06)) and two carriers (0 13 and 0 15).Motor nerve conduction velocities (MCVs) were measured in the median, posterior tibial, and common peroneal nerves. Sensory nerve conduction velocities (SCVs) were measured in the median, sural, and superficial peroneal nerves.We investigated the short latency somatosensory evoked potentials (SSEPs).
This report describes a case of cerebrotendinous xanthomatosis (CTX) accompanied by clinical manifestations of parkinsonism, including oily and masked face, marked akinesia, muscle rigidity and resting hand tremor. Magnetic resonance imaging (MRI) of the brain showed high intensity areas on T2 weighted imaging, and slightly low intensity areas on Tl weighted imaging in the right globus pallidus and the left putamen. Cerebral cortical atrophy with slight ventricular dilatation and cerebellar atrophy were present as well. This is a case report of CTXwhich manifested parkinsonism. Parkinsonism may not be a coincidental manifestation in CTX,but rather represent a symptomof the same underlying diathesis.
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