Background: Newborn infants are particularly prone to hypothermia, a condition with a high mortality.
Objective: To study the CT brain patterns in infants with hypothermia and neurological symptoms.
Materials And Methods: We reviewed the brain CT of nine infants with neonatal hypothermia, multiple organ failure, seizures and coma.
We describe MRI findings in 13 persons with typical clinical, EEG, CT and biochemical features of cerebrotendinous xanthomatosis (CTX). MRI showed brain (13/13) and cerebellar (12/13) atrophy and diffuse white matter hypodensity (4/13) presumably reflecting sterol infiltration with demyelination. Focal lesions were rare (2/13).
View Article and Find Full Text PDFSignificant osteoporosis determined by skeleton radiography and bone densitometry was found in 15 patients with cerebrotendinous xanthomatosis (CTX) whose mean age was 31 +/- 11 years. In three CTX patients, bone biopsies confirmed osteoporosis. Nine patients also sustained bone fractures following minimal trauma.
View Article and Find Full Text PDFOcular bobbing, dipping and "reversed" ocular dipping were observed and recorded in two patients presenting a severe neurological symptomatology: quadruplegia and coma in one and locked-in syndrome in the other. CT scan showed a pontine infarction in both these patients. This is the first time that the ocular dipping and "reversed" ocular dipping are related to such an anatomic structure.
View Article and Find Full Text PDFTendinous xanthomata with maximum expression on Achilles tendons are a characteristic feature of cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. Twenty patients are under review; three of them, at different stages of the disease, underwent computed tomographic (CT) examination. CT demonstrates with a high degree of accuracy the increased size of the tendon and its heterogeneous structure resulting from cholesterol and cholestanol crystal deposits.
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