Septo-optic-pituitary dysplasiaの1症例

A case of septo-optic-pituitary dysplasia

　Septo-optic-pituitary dysplasia （SOPD）の55歳男性症例について報告した。上正中部兎唇，低身長，知能発育遅延、第二次性徴遅延，視床下部下垂体ホルモンの低値があり，頭部MRI検査上，脳梁・透明中隔欠損，下垂体低形成，左眼小眼球症，視交叉低形成がみられた。眼科的には，眼振，右眼は白内障と視神経萎縮，左眼は視神経低形成と後部ぶどう腫，水晶体完全脱臼と網脈絡膜全体の変性像を示した。また右眼は求心性視野狭窄を示し，全色盲であった。脳梁・透明中隔欠損，視神経低形成，視床下部下垂体機能低下症の三徴すべて揃った症例の報告は眼科ではなく，貴重な症例と考えた。

We diagnosed a 55-year-old male as septo-optic-pituitary dysplasia. He showed nystagmus, upper midline cleft lip, short stature, mental retardation, delayed development of secondary sexual characteristics and hypothalamic-pituitary insufficiency. Magnetic resonance imaging showed defective corpus callosum and septum pellucidum, pituitary hypoplasia, hypoplasia of the chiasm and unilateral nanophthalmos. The right eye showed cataract, optic atrophy, achromatopsia and concentric visual field contraction. The left nanophthalmic eye showed optic nerve hypoplasia, posterior staphyloma, dislocated lens and total chorioretinal degeneration. This is the first ophthalomological report in Japan regarding SOPD, or agenesis of corpus callosum and septum pelucidum, optic nerve hypoplasia and congenital hypothalamic-pituitary insufficiency.