The Puzzle of Perlman: A Rare Overgrowth Syndrome

Abstract

Perlman syndrome is a rare overgrowth syndrome characterized by increased body size, specific dysmorphic features, and association with neurodevelopmental disorders, kidney disease, and risk of Wilms tumor. This autosomal recessive syndrome is usually caused by homozygous defects in DIS3 L2. Few cases survive beyond the neonatal period. We present a Saudi male infant who was evaluated for visceromegaly. Antenatal ultrasound revealed an enlarged kidney. Postnatally, the patient required prolonged hospitalization for birth asphyxia. Facial dysmorphism included low-set ears, depressed nasal bridge, tented upper lip, micrognathia, and a high forehead. Follow-up ultrasound indicated bilateral round kidney masses, suggesting Wilms tumor. Genetic testing revealed a homozygous deletion in exon 9 of DIS3 L2. The patient survived the first 2 years of life. Patients with Perlman syndrome require a multidisciplinary approach to long-term management.