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Published on: June 18, 2021
Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy
Jeremy M Neese1, Sabrina Yum2, Susan Matesanz3
1Division of Critical Care Medicine, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, United States.
Insights
X-linked myotubular myopathy (XLMTM) can cause vitamin K deficiency, leading to fatal bleeding. Routine screening for hepatic, coagulation, and nutritional status is recommended for affected children.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- X-linked myotubular myopathy (XLMTM) is a severe congenital neuromuscular disorder.
- XLMTM presents with profound hypotonia and respiratory issues at birth.
- Associated morbidities include chronic respiratory insufficiency and feeding difficulties.
Observation:
- A 6-month-old boy with XLMTM experienced fatal intracranial hemorrhage.
- The hemorrhage was attributed to vitamin K deficiency.
- No prior clinical signs of cholestasis or micronutrient deficiency were noted.
Findings:
- Vitamin K deficiency can occur in XLMTM without apparent cholestasis.
- Clinically silent cholestasis, acute illness, and poor weight gain may contribute to vitamin K deficiency.
- The exact cause and mechanism of cholestasis in this case remain undetermined.
Implications:
- Children with XLMTM may benefit from routine hepatic, coagulation, and nutritional screening.
- Proactive screening can help prevent severe bleeding complications.
- Early detection and management are crucial, especially with emerging gene therapies for XLMTM.
Abstract:
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.
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