Stromme syndrome presenting with classic microcephaly and apple-peel intestinal atresia in a neonate: a genetically confirmed case report

Abstract

<title>Abstract</title> <bold>Background:</bold> Stromme syndrome is an exceptionally rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the <italic>CENPF</italic> gene. It is classically characterized by microcephaly and apple-peel type intestinal atresia, often accompanied by ocular, cardiac, and genitourinary anomalies. Fewer than 30 genetically confirmed cases have been reported worldwide, with marked phenotypic heterogeneity. Reporting additional cases contributes to expanding the phenotypic and genotypic spectrum, improving recognition and early diagnosis of this severe disorder. The present case is noteworthy as one of the few antenatally diagnosed instances of Stromme syndrome confirmed by whole-exome sequencing and presenting with the classic combination of microcephaly and apple-peel intestinal atresia. <bold>Case presentation:</bold> A late preterm female neonate, born at 36 weeks’ gestation to a non-consanguineous couple, was antenatally suspected to have intestinal atresia on routine ultrasound at 20 weeks. Amniocentesis followed by whole-exome sequencing identified a pathogenic homozygous variant in the <italic>CENPF</italic> gene (NM_016343.4: exon 18 c.8692C&gt;T), confirming Stromme syndrome. Postnatally, the neonate exhibited microcephaly (head circumference 30 cm) with otherwise normal systemic examination. Exploratory laparotomy on day 2 of life revealed duodenal and jejunal atresia with the classic apple-peel configuration and a hypoplastic superior mesenteric artery. Despite surgical intervention and intensive neonatal care, the infant developed progressive sepsis, multiorgan dysfunction, and succumbed on day 9 of life. <bold>Conclusions:</bold> This case represents the 27th genetically confirmed instance of Stromme syndrome and one of the few diagnosed prenatally. The combination of microcephaly and apple-peel intestinal atresia should alert clinicians to the possibility of <italic>CENPF</italic> -related ciliopathy. Early genetic confirmation enables accurate prognostication, multidisciplinary management, and informed reproductive counseling. Documentation of such cases is vital to enhance clinician awareness and broaden understanding of this devastating but under-recognized neonatal disorder.