- 期刊
Lumbosacral Agenesis in a Premature Infant of a Diabetic Mother
糖尿病母親之早産嬰兒腰薦椎發育不全：一病例報告
摘要
我們報告一個患有非家族性腰薦椎發育不全的早産男嬰。此男嬰是由一個糖尿病母親所生，其母雖規則接受胰島素治療，但是妊娠期間仍有高血糖現象。男嬰的臨床表徵包括骨盆萎縮，臀部扁平，下肢畸形等。X光片檢查發現全部的腰椎，薦椎，及尾椎皆發育不全。整個脊椎的核磁共振造影顯現出自第十二胸椎以下，脊髓即中斷了。腹部核磁共振造影則顯示兩側腎髒旋轉不當且粘連。週邊血液細胞遺傳學檢查顯示爲正常男性染色體核型。此病人常反覆的呼吸窘迫和泌尿道感染而必須住院治療。此病例顯示腰薦椎發育不全可能是母親糖尿病所導致胚胎病變的一種，且無論有無接受胰島素治療，此先天畸形仍可能形成。
並列摘要
We report a non-familial case of lumbosacral agenesis born to a type 1 diabetic mother who had hyperglycemia during pregnancy despite regular insulin therapy. The male baby was noted to have atrophy of pelvis, flattening of the buttocks, and deformity of the lower limbs at birth. Spinal X-ray film revealed total agenesis of lumbar, sacral, and caudal spines. Magnetic resonance image disclosed interruption of the spinal cord at the level of T12 and adhesion between the two malrotated kidneys. Peripheral blood cyto genetic study revealed a normal male karyotype. Recurrent episodes of respiratory distress and urinary tract infection had bothered the patient subsequently. It is suggested that lumbosacral agenesis, a severe congenital defect, might be one of the anomalies of diabetic embryopathy.
延伸閱讀
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