Trisomy 8 mosaicism syndrome with bilateral undescended testes: A case report and literature review

Abstract

Trisomy 8 mosaicism syndrome (Warkany syndrome 2) is a rare chromosomal disorder, with an estimated prevalence ranging from 1:25,000 to 1:50,000. It has a wide spectrum of clinical presentations ranging from un-noted at all or mild to severe. Case description: A newborn male baby with dysmorphic features, congenital anomalies, and hypotonia was admitted to the neonatal intensive care unit of a hospital in Saudi Arabia for further evaluation. The patient’s clinical presentations included dysmorphic features, hypotonia, bilateral undescended testes, multiple bilateral choroid plexus cysts, a left cerebral vermis cyst, a small patent foramen ovale, a small patent ductus arteriosus, thrombocytopenia, bilateral grade 2 hydronephrosis, right positional talipus with medially deviated toes, and left fixed talipus. On the basis of these presentations, he was diagnosed with Trisomy 8 mosaicism syndrome (Warkany syndrome 2). Currently, he is 4 years old, with a stable overall clinical condition. A diagnosis of Warkany syndrome 2 should be considered in patients with multiple congenital abnormalities and choroid plexus cysts with unilateral or bilateral undescended testes. In such cases, further evaluation, especially with karyotyping, is advised.

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