Goldberg-Shprintzen Megacolon Syndrome Diagnosed in the Neonatal Period: A Case Report With Molecular Confirmation

Goldberg-Shprintzen megacolon syndrome (GOSHS) is a rare autosomal recessive neurodevelopmental disorder characterized by Hirschsprung disease, microcephaly, neurodevelopmental impairment, and craniofacial dysmorphism. We report a male neonate born at 35+4 weeks of gestation who presented on day 4 of life with abdominal distension and delayed passage of meconium. Clinical examination revealed microcephaly, generalized hypotonia, craniosynostosis, and dysmorphic facial features, with a positive family history of GOSHS. Hirschsprung disease was confirmed by rectal biopsy, and cranial imaging demonstrated structural brain abnormalities, including hypoplasia of the corpus callosum, and confirmed the presence of craniosynostosis. Targeted molecular analysis of the Kinesin Family Binding Protein (KIFBP) gene using polymerase chain reaction (PCR) amplification followed by Sanger sequencing identified compound heterozygous pathogenic variants, confirming the diagnosis during the neonatal period. GOSHS should be considered in neonates presenting with Hirschsprung disease in combination with hypotonia, dysmorphic features, or neuroimaging abnormalities. Early molecular diagnosis may facilitate timely multidisciplinary management and genetic counseling.