作者
Jeremy M Neese, Sabrina Yum, Susan Matesanz, Leslie J Raffini, Hilary B Whitworth, Kathleen M Loomes, Oscar H Mayer, Alicia M Alcamo
发表日期
2021/7/1
期刊
Neuromuscular Disorders
卷号
31
期号
7
页码范围
651-655
出版商
Elsevier
简介
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy characterized by profound hypotonia and poor respiratory effort at birth. The condition is associated with multiple morbidities including chronic respiratory insufficiency, feeding tube dependence, and rarely, vitamin K deficiency leading to bleeding and coagulopathy. We report a case of a 6-month-old boy with X-linked myotubular myopathy who experienced a fatal intracranial hemorrhage due to vitamin K deficiency without prior clinical evidence of cholestasis or micronutrient deficiency. We propose clinically non-apparent cholestasis in combination with acute illness and poor weight gain led to his vitamin K deficiency and intracranial hemorrhage. However, the etiology and mechanism of his cholestasis remains unclear. We conclude that children with X-linked myotubular myopathy, especially with gene therapy on the horizon, may benefit from …
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JM Neese, S Yum, S Matesanz, LJ Raffini… - Neuromuscular Disorders, 2021