Congenital myasthenia associated with skeletal abnormalities and cataract in two sisters.
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Congenital myasthenia is a rare form of myasthenia, and according to some authors represents less than 1% of all cases.<BR>The aim of this report is to describe two sisters with congenital myasthenia associated with skeletal abnormalities and cataract.<BR>Case 1.: 13-year-old-girl. The patients younger sister is similarly affected (case 2). The parents are well, and not consanguineous. She had bilateral ptosis since birth. The parents consulted a pediatrician at the age of 1 year and 8 months, and a diagnosis of myasthenia gravis was made by Tensilon test. She was floppy, and started to walk at the age of 6 years. She showed chest deformity since birth, and scoliosis was noted at the age of 7 years.<BR>Case 2.: 7-year-old-girl. She had also bilateral ptosis since birth, and had measles encephalitis at the age of 6 months. She was also floppy and started to walk at the age of 3 years and 6 months. On physical examination, they showed bilateral ptosis, high arched palate, chest deformity, and scoliosis. There was weakness of proximal muscles. There was no clinical improvement of ptosis after Tensilon injection. But repetitive ulnar nerve stimulation showed a decremental response at all frequencies of stimulation. Following the injection of Tensilon this response increased. The anti-acetylcholine receptor antibody was not detected in both cases. Muscle biopsy studies showed mild variation in fiber size with normal fiber type distribution.<BR>There was a punctated cataract in both cases. IQ was 91 in the elder sister, and 45 in the younger sister. The occurrence of the disease in two sisters and healthy parents suggests an autosomal recessive inheritance.
- 一般社団法人 日本小児神経学会の論文
一般社団法人 日本小児神経学会 | 論文
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