A Case of Congenital Nephrogenic Diabetes Insipidus Presenting Fever in Neonatal Period / 대한주산의학회잡지

Congenital nephrogenic diabetes insipidus (NDI) is a rare disorder of the kidney characterized by the in ability to concentrate urine despite normal or elevated plasma concentration of the antidiuretic hormone agent vasopressin (AVP). We describe a case of congenital nephrogenic diabetes insipidus presenting with mild fever . The 3-day-old baby boy was admitted with mild fever. He has 6 members with DI in his family and his laboratoty finding showed hypernatremia, increased serum osmolarity and low level of urine specific gravity. Throughout the water deprivation test and the vasopressin test, he has been diagnosed as congenital NDI. Urinary free water loss was improved after treatment with hydrochlorothiazide and low salt formula. At the age 4 months, the infant has demonstrated normal growth and neurodevelopmental milestones. An early diagnosis of congenital NDI is very important, since the proper adequate management can prevent hyperosmolarity which might induce the delayed mental and physical development.

Urachal Anomalies in Children: A Single Center Experience

The objective of this study is to define optimal diagnosis and treatment strategies for patients with urachal anomalies in the pediatric age group. The medical records of 21 children who had undergone surgery for urachal anomalies at Severance Hospital, Yonsei University College of Medicine from January 1990 to April 2005 were reviewed. The subjects included 14 males and 7 females (M:F 2:1). The four types of urachal anomalies confirmed were a urachal cyst in 10 patients (47.6%), a patent urachus in 6 (28.6%), a urachal sinus in 4 (19.0%) and a urachal diverticulum in 1 (4.8%) patient. The most common presenting complaint was umbilical discharge (n = 10, 40.0%), followed by abdominal mass (n = 9, 36.0%). Urachal anomalies were diagnosed by ultrasonography in 18 patients, and 7 of them were additionally examined by computed tomography. The remaining patients were diagnosed solely by surgical exploration. Excision was performed in all patients and was supplemented by partial cystectomy in three. Umbilical discharge was the most common clinical manifestation in our patients, suggesting that ultrasonography should be performed in patients with umbilical discharge to differentiate urachal anomalies. We found the most common anomaly to be the urachal cyst, and all patients were successfully treated by surgical excision.