• C Kosmeri, N Dermitzaki, V G Xydis, and A Drougia.
• Neonatal Intensive Care Unit, University Hospital of Ioannina, Medical School, University of Ioannina, Ioannina, Greece.
• Hippokratia. 2022 Jul 1; 26 (3): 118120118-120.

BackgroundAgenesis of the corpus callosum (ACC) is a rare congenital anomaly often associated with other congenital anomalies, syndromic, chromosomal, or genetic disorders. ACC may be detected antenatally. The postnatal diagnosis usually arises following neuroimaging evaluation for neurodevelopmental disorders during the first years of life.Case DescriptionWe report a case of a neonate with complete ACC, presenting with serious feeding-swallowing difficulties and respiratory symptoms. Coexisting severe laryngomalacia was diagnosed. ACC was detected on routine cranial ultrasound. Molecular karyotype revealed pericentric inversion of chromosome 9, inv(9)(p23q22.3), and whole exome sequencing was negative.ConclusionThe reported case presented unusual clinical manifestations. Laryngomalacia is an extremely rare associated anomaly in infants with ACC, with only a few cases reported in the literature. Moreover, to our knowledge, this is the first reported case of ACC and laryngomalacia associated with the polymorphism inv(9)(p23q22.3). HIPPOKRATIA 2022, 26 (3):118-120.Copyright 2022, Hippokratio General Hospital of Thessaloniki.

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