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.
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