Zolkipli Zarazuela, Longman Cheryl, Brown Sue, Rahman Nazneen, Holder S E, Muntoni Francesco
Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammesmith Hospital, Imperial College London, London W12 0NN, UK.
Eur J Paediatr Neurol. 2003;7(6):401-6. doi: 10.1016/s1090-3798(03)00109-0.
Infantile Systemic Hyalinosis is a rare autosomal recessive entity, characterised by deposition of hyaline material in skin and bone, often complicated by visceral involvement. The characteristic features are marked delay in motor milestones attributed to severe progressive flexion contractures of proximal and distal joints, and skin and mucosal hypertrophy and thickening, followed by failure to thrive. Pain secondary to osteolytic lesions is also a predominant feature. We report a patient with Infantile Systemic Hyalinosis, confirmed by the clinical findings, who also displayed clear evidence of proximal muscle weakness. Muscle biopsy revealed myopathic changes, which have not been reported previously. We suggest that skeletal muscle is involved in Infantile Systemic Hyalinosis and contributes to the characteristic poor outcome of these patients.
婴儿全身性透明变性是一种罕见的常染色体隐性疾病，其特征是透明物质在皮肤和骨骼中沉积，常伴有内脏受累。其特征性表现为运动发育里程碑明显延迟，这归因于近端和远端关节严重的进行性屈曲挛缩、皮肤和黏膜肥大增厚，随后出现生长发育迟缓。溶骨性病变继发的疼痛也是一个主要特征。我们报告了一名经临床检查确诊为婴儿全身性透明变性的患者，该患者还表现出明显的近端肌无力证据。肌肉活检显示有肌病改变，这在以前尚未有过报道。我们认为骨骼肌也参与了婴儿全身性透明变性，并导致了这些患者典型的不良预后。
