Search

Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumors in clinical practice.

Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. ZS is a severe multisystem condition characterized by neonatal appearance of symptoms and a shorter life. Here, we report a case of ZS with a mild phenotype, due to a novel PEX6 gene mutation. The patient presented subtle craniofacial dysmorphic features and slightly slower psychomotor development. At the age of 2 years, he was diagnosed with adrenal insufficiency, hypoacusis, and general deterioration. Magnetic resonance imaging showed a symmetrical hyperintense signal in the frontal and parietal white matter. Biochemical tests showed elevated liver transaminases, elevated serum very long chain fatty acids, and phytanic acid. After the death of the child at the age of 6 years, molecular diagnostics were continued in order to provide genetic counseling for his parents. Next generation sequencing (NGS) analysis with the TruSight One™ Sequencing Panel revealed a novel homozygous PEX6 p.Ala94Pro mutation. In silico prediction of variant severity suggested its possible benign effect. To conclude, in the milder phenotypes, adrenal insufficiency, hypoacusis, and leukodystrophy together seem to be pathognomonic for ZS.