当前位置: X-MOL 学术Neuromuscul. Disord. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy
Neuromuscular Disorders ( IF 2.7 ) Pub Date : 2021-05-11 , DOI: 10.1016/j.nmd.2021.04.009
Jeremy M Neese 1 , Sabrina Yum 2 , Susan Matesanz 3 , Leslie J Raffini 4 , Hilary B Whitworth 5 , Kathleen M Loomes 6 , Oscar H Mayer 7 , Alicia M Alcamo 8
Affiliation  

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.



中文翻译:

X连锁肌管肌病继发于维生素K缺乏的颅内出血

X 连锁肌管肌病 (XLMTM) 是一种罕见的先天性肌病,其特征是出生时严重的肌张力减退和呼吸努力差。该病与多种疾病有关,包括慢性呼吸功能不全、饲管依赖,以及罕见的维生素 K 缺乏导致出血和凝血病。我们报告了一例患有 X 连锁肌管肌病的 6 个月大男孩,他因维生素 K 缺乏而经历了致命的颅内出血,但之前没有胆汁淤积或微量营养素缺乏的临床证据。我们建议临床上不明显的胆汁淤积与急性疾病和体重增加不良相结合,导致他的维生素 K 缺乏和颅内出血。然而,其胆汁淤积的病因和机制尚不清楚。我们得出结论,患有 X 连锁肌管肌病的儿童,

更新日期:2021-05-11
down
wechat
bug