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Abdominal Distension



Question:
Pramila Verma, Saurabh Kumar, Nitesh Upadhyay, Shweta Goyal, Minhajjudin Ahmad, Jaishree Ambhore
Department of Pediatrics, Chirayu Medical College, Bairagarh, Bhopal, Madhya Pradesh, India

Address for Correspondence: Dr Pramila Verma, Professor and Head, A–57 Dwarkadham colony, Airport Road, Bhopal, Madhya Pradesh, India. Email: drpramilav@yahoo.com

Two-month-old male baby presented with swelling of the abdomen. He was born of non-consanguineous marriage by normal vaginal delivery with an uneventful postnatal period. There was no history of steroid intake. On examination, he had pallor, microcephaly, doll like facies, distended and hypotonic abdomen with loose skin folds over the abdomen. Liver and spleen were not palpable. Other systems were normal. Ultrasound of abdomen and scrotum revealed bilateral hydroureteronephrosis, obstructive uropathy and undescended testis on right side. Laboratory report revealed serum urea 158.9 mg/dl and serum creatinine 1.36 mg/dl.

What is the diagnosis?

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