Sobreira C, Marques W, Barreira A A
Departamento de Neurologia, Psiquiatria e Psicologia Médica, Universidade de São Paulo, Brazil.
J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1317-9. doi: 10.1136/jnnp.74.9.1317.
Multicore disease and congenital fibre type disproportion myopathy are diseases assigned to the heterogeneous group of congenital myopathies. Although hypotonia and muscle weakness appearing in early life are the commonest manifestations of these diseases, distinct phenotypes and late onset cases have been described.
To report the occurrence of myalgia as the revealing symptom of multicore disease and fibre type disproportion myopathy.
The clinical cases of three patients with fibre type disproportion myopathy and one with multicore disease are described. Skeletal muscle biopsies were processed for routine histological and histochemical studies.
The clinical picture was unusual in that the symptoms were of late onset and the predominant complaint was muscle pain exacerbated by exercise. Muscle weakness was found in only a single patient, the mother of a patient with fibre type disproportion myopathy. Physical examination was unremarkable in the other patients. Muscle biopsies from patients 1 and 2 contained type I fibres that were considerably smaller than the type II fibres, supporting the diagnosis of fibre type disproportion myopathy. Skeletal muscle of patient 4 showed multiple areas, predominantly but not exclusively in the type I fibres, from which oxidative enzyme activities were absent, as seen in multicore disease.
Muscle pain was the main clinical manifestation in our patients. Recognition of the broader clinical expression of these myopathies is important for prognostic reasons and for genetic counselling of the family members.
多核病和先天性纤维类型不均衡性肌病属于先天性肌病这一异质性疾病组。尽管早年出现的肌张力减退和肌无力是这些疾病最常见的表现，但也有不同的表型和迟发性病例的报道。
报告肌痛作为多核病和纤维类型不均衡性肌病的首发症状。
描述了3例纤维类型不均衡性肌病患者和1例多核病患者的临床病例。对骨骼肌活检组织进行常规组织学和组织化学研究。
临床表现不寻常，症状为迟发性，主要主诉为运动后加重的肌肉疼痛。仅在1例患者（1例纤维类型不均衡性肌病患者的母亲）中发现肌无力。其他患者体格检查无异常。患者1和患者2的肌肉活检显示I型纤维明显小于II型纤维，支持纤维类型不均衡性肌病的诊断。患者4的骨骼肌显示多个区域，主要但并非仅在I型纤维中，缺乏氧化酶活性，这与多核病所见相同。
肌肉疼痛是我们患者的主要临床表现。认识到这些肌病更广泛的临床表现在预后及对家庭成员进行遗传咨询方面很重要。
