Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy

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 routine hepatic, coagulation, and nutritional screening to prevent potentially catastrophic bleeding. (c) 2021 Elsevier B.V. All rights reserved.

Automated summary

X-linked myotubular myopathy is a rare congenital muscular disease characterized by severe muscle weakness and respiratory difficulties. Patients may also experience chronic respiratory insufficiency, reliance on feeding tubes, and in rare cases, vitamin K deficiency leading to bleeding and coagulation abnormalities.