منابع مشابه
Primary segmental volvulus of the ileum mimicking meconium plug syndrome
Primary segmental volvulus (PSV) of the ileum in neonate occurs rarely but shows an aggressive clinical course. Thus, early diagnosis is important to prevent necrosis and perforation of the intestine. We report a case of PSV of the ileum in a 2-day-old female neonate whose clinical features and radiologic findings appeared to be meconium plug syndrome.
متن کاملSpinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array ...
متن کاملSegmental Ischaemia of the Terminal Ileum: A Diagnostic Dilemma during Emergency Laparotomy?
A 61-year-old woman with a past medical history of stable myelodysplastic syndrome presented as an emergency with lower abdominal pain. Clinical features were suggestive of acute diverticulitis, with localized peritonitis in the form of tenderness, rebound tenderness and raised inflammatory markers of White Cell Count at 20 thousand and CRP of 114. Abdominal ultrasonography revealed a thickened...
متن کاملCerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
متن کاملCerebrotendinous xanthomatosis.
Cerebrotendinous xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic abnormalities. Typically, the disease begins in infancy with chronic diarrhoea. Cataracts become evident in childhood or adolescence, and xanthomata develop in the second and third decades of life. Significant neurologic impairment also occurs; this...
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ژورنال
عنوان ژورنال: Clinical Gastroenterology and Hepatology
سال: 2019
ISSN: 1542-3565
DOI: 10.1016/j.cgh.2018.01.013