Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy
| Autor: | Leslie Raffini, Oscar H. Mayer, Alicia M. Alcamo, Kathleen M. Loomes, Susan E. Matesanz, Sabrina W. Yum, Hilary B. Whitworth, Jeremy M. Neese |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Micronutrient deficiency business.industry medicine.disease Congenital myopathy X-linked myotubular myopathy Hypotonia 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Neurology Cholestasis Pediatrics Perinatology and Child Health Vitamin K deficiency medicine Coagulopathy Etiology Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Neuromuscular Disorders. 31:651-655 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2021.04.009 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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