ESPN 51th Annual Meeting

ESPN 2018


 
PROTEUS SYNDROME: CASE REPORT
ECE MEKIK 1 SERDAR CEYLANER 2 SUAT FITOZ 3 MESIHA EKIM 1

1- ANKARA UNIVERSITY SCHOOL OF MEDICINE, PEDIATRIC NEPHROLOGY DEPARTMENT
2- INTERGEN GENETICS CENTER
3- ANKARA UNIVERSITY SCHOOL OF MEDICINE, PEDIATRIC RADIOLOGY DEPARTMENT
 
Introduction:

Proteus syndrome is a rare complex disorder that is characterized by rapidly progressive, asymmetric postnatal overgrowth of tissues, with hyperosteoses, vascular malformations, dysregulation of fatty tissues, and skin manifestations. It is a sporadic anomaly that occurs from somatic activating mutations in the AKT1 oncogene. We hereby present a case of Proteus syndrome whose kidney was hydronephrotic due to pressure created by perirenal tissue overgrowth.

Material and methods:

File of the case was examined restrospectively. 

Results:

 9-month-old male patient was referred to our clinic due to hydronephrosis(HN). He was the first child of healthy and non-related parents. He was born term and antenatal sonographies were detected normal. After birth abdominal distention and toe anomalies were noticed. With time, left leg got thicker, and when he was 3-month-old swelling of the back appeared. Difficult urination due to phymosis, resolved after circumcision. Physical examination showed multiple lumps at back and lumbar area, hypotonicity of abdominal muscles, large hemangioma on the abdominal wall, swollen left leg and hypodactylia of left foot. Renal function tests, serum electrolytes, complete blood count and urine analysis were normal. Abdominal magnetic resonance imaging(MRI) revealed subcutaneous multicystic lesions extending from left perirenal to left parailiac area with adipose tissue hypertrophy; which was consistent with vascular malformation with lymphangiomatous component and left HN with thinned renal parenchyma  secondary to the mass was noted. Clinical genetics consultation revealed that patient had Proteus syndrome. However, AKT1 gene analysis was not performed due to technical difficulties.

Conclusions:

Proteus Syndrome may affect many systems including the urinary system. Careful multi-systemic follow-up is necessary.