Stickler症候群の親子例

Stickler syndrome in a boy and his mother

要約　目的：Stickler症候群の親子例の報告。症例：12歳男児が高身長，くも状指，高位口蓋などからMarfan症候群を疑われて受診した。所見：水晶体後方の硝子体にビーズ様の線維性索状物と，網膜円孔を伴う格子状変性が両眼にあった。初診から1年後に右眼，3年後に左眼に裂孔原性網膜剝離が発症し，手術で復位した。眼外症状として，口蓋裂，鼻根部の平坦化，小顎症，膝関節炎，伝音性難聴があった。47歳の母親に，同様のビーズ様の硝子体変性，白内障，網脈絡膜萎縮，網膜格子状変性があり，顔面骨の形成異常，口蓋裂，多発性変形性関節症，感音性難聴があった。眼と全身所見とから，親子ともStickler症候群と診断した。結論：小児の網膜剝離の原因としてStickler症候群があり，その可能性に留意する必要がある。本症は常染色体優性遺伝を示すので，血縁者の所見が診断の参考になる。

Abstract.　Purpose：To report Stickler syndrome in a boy and his mother. Case：A 12-year-old boy presented with high body height, arachonodactyly, and arched palate. He had been suspected of Marfan syndrome. Findings：Both eyes showed bead-like fibrous strands in the vitreous and lattice degeneration with retinal holes. Rhegmatogenous retinal detachment developed in the right eye one year later and in the left eye 3 years later. The retina became reattached after surgery. He manifested, as extraocular features, cleft palate, flat nasal bridge, micrognathia, knee arthritis, and conductive hearing loss. Similar findings were present in his 47-year-old mother, including bead-like vitreous degeneration, cataract, retinochoroidal atrophy, lattice degeneration, hypoplasia of facial bones, multiple degenerative arthritis, and sensorineural hearing loss. These findings led to the diagnosis as Stickler syndrome in both cases. Conclusion：Stickler syndrome may be causatively involved in juvenile retinal detachment. Findings in family members may be useful in the diagnosis.