[Leprechaunism]。

G. Koya
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引用次数: 0

摘要

一个6个月大的小女孩死于恶病质,同时伴有全身巨细胞症和心肌代谢紊乱,这是由心脏动脉钙质沉着症引起的。先证者7岁患有聋哑症和弱智。面部和身体多发畸形,皮肤角化过度伴乳头状瘤病和黑皮病,多毛症,假两性畸形,乳腺增生,血糖正常。尸检发现卵巢多囊和肾肥大。组织学上表现为肾母细胞增生,卵巢间质细胞局灶性增生,心脏动脉、小肠肠系膜、脾脏、胰腺、甲状腺等囊性肾发育不良钙化。最终的诊断建立在综合临床和形态学征象的基础上。
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[Leprechaunism].
A course of leprechaunism is described in a 6-month-old girl who died of cachexia in the presence of generalized cytomegalia and myocardial metabolic derangement caused by cardiac arterial calcinosis. Proband sib aged 7 suffered from deaf-mutism and imbecility. There were multiple deformities of the face and body, skin hyperkeratosis with papillomatosis and melanoderma, hirsutism, pseudohermaphroditism, breast hyperplasia, normal serum glucose. Ovarian polycystosis and nephromegaly were detected at autopsy. Histologically, there appeared nesidioblastosis, Leydig's cells focal hyperplasia in the ovaries, cystic renal dysplasia calcinosis of cardiac arteries, those of mesentery of the small intestine, spleen, pancreas and thyroid gland. The final diagnosis was established on the basis of the whole complex of clinical and morphological signs.
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