Division of Pediatric Neuroloy, Dayanand Medical College & Hospital, Ludhiana, Punjab, India.
Department of Pediatrics, Dayanand Medical College & Hospital, Ludhiana, Punjab, India.
Neurol India. 2021 Nov-Dec;69(6):1650-1654. doi: 10.4103/0028-3886.333492.
Osteomalacic myopathy secondary to vitamin-D deficiency is an under-recognized cause of muscle weakness in children and adolescents.
To describe a cohort of children and adolescents with osteomalacic myopathy.
Pediatric neurology unit of a tertiary care hospital.
Charts of children and adolescents with osteomalacic myopathy were retrospectively reviewed for demographics, clinical presentation, laboratory investigations, and treatment response. Diagnosis of vitamin-D deficiency was made on the basis of a combination of clinical, biochemical, and radiographic findings. Response to treatment with vitamin-D confirmed vitamin-D deficiency as the cause of myopathic symptoms.
Twenty-six children-15 girls and 11 boys aged between 20 months and 19 years-with osteomalacic myopathy were identified. Fifteen (58%) children were between 10 years and 19 years of age. Twenty-one (81%) children presented with myopathic symptoms of progressive walking difficulty, with eventual loss of ambulation in six. Four children came to attention through hypocalcemic seizures. One nonambulatory child with cerebral palsy presented with loss of previously attained ability to roll over and sit. All children had proximal muscle weakness on examination. Fifteen (58%) children had clinical signs of rickets. All the children who underwent biochemical (n = 24) and radiographic (n = 16) investigations had results consistent with vitamin-D deficiency. Only in one child, the diagnosis of osteomalacic myopathy was made on the basis of clinical findings. Response to vitamin D was uniformly good.
Vitamin-D deficiency should be considered in the differential diagnosis of proximal myopathy in children and adolescents.
维生素 D 缺乏引起的佝偻病性肌病是儿童和青少年肌肉无力的一种被低估的原因。
描述一组佝偻病性肌病患儿。
三级医院儿科神经病学病房。
回顾性分析佝偻病性肌病患儿的病历，以了解其人口统计学、临床表现、实验室检查和治疗反应。维生素 D 缺乏的诊断基于临床、生化和影像学表现的综合判断。维生素 D 治疗的反应证实了维生素 D 缺乏是肌病症状的原因。
共发现 26 例患有佝偻病性肌病的儿童-15 名女孩和 11 名男孩，年龄在 20 个月至 19 岁之间。15 例（58%）儿童年龄在 10 岁至 19 岁之间。21 例（81%）患儿出现进行性行走困难的肌病症状，最终有 6 例丧失行走能力。4 例因低钙血症性抽搐而引起关注。1 例患有脑瘫的非行走患儿出现以前能够翻身和坐立的能力丧失。所有患儿均有近端肌无力的体格检查表现。15 例（58%）患儿有佝偻病的临床体征。所有接受生化（n=24）和影像学（n=16）检查的儿童均有维生素 D 缺乏的结果。只有 1 例患儿根据临床发现诊断为佝偻病性肌病。维生素 D 的反应均良好。
在儿童和青少年近端肌病的鉴别诊断中，应考虑维生素 D 缺乏的可能性。
