A case of craniodiaphyseal dysplasia.
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概要
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A 11-year-old boy with craniodiaphyseal dysplasia was described. From his birth, swelling around the nose and thick and broad mandible were noticed. Sucking was difficult because of severe nasal obstruction, and he was fed by a gastric tube. At the age of 3 months, bilateral optic atrophy was pointed out. At 2 years he was able to speak a few words, but thereafter no more increase in vocabulary was noticed. At 5 years, he was found to have hearing disturbance and after wearing a hearing-aid, he showed developmental catch up in language. He went to school for the blind because of progressive loss of vision. At 11 years, he complained of gait disturbance with weakness of extremities. His physical examination disclosed very grotesque features, such as very large head, and marked enlargement of mandibular, maxillary and zygomatic bones. There were ocular proptosis, hypertelorism, depressed nose with complete obstruction of the nasal canal and persistent lacrimation. The mouth was kept open to breathe. Neurological examination revealed bilateral anosmia, visual and hearing impairment and facial palsy. Also, spastic tetraparesis was noticed. Laboratory data revealed markedly elevated alkaline phosphatase activity. Studies of calcium and phosphate metabolism were all within normal limits. Skull X-ray revealed marked hyperostosis of the entire cranial and facial bones. There was no aeretion of sinuses or mastoid. The long bones lacked normal tubulation, and showed mainly diaphyseal thickning and sclerosis, resulting in a straight cylindrical shape (policeman's night stick). This is the first typical case of craniodiaphyseal dysplasia reported in Japan.
- 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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