A rare case of a neonate with agenesis of the corpus callosum and severe laryngomalacia.

C Kosmeri, N Dermitzaki, V G Xydis, A Drougia

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In one paragraph

Article in Hippokratia. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

C KosmeriNeonatal Intensive Care Unit, University Hospital of Ioannina, Medical School, University of Ioannina, Ioannina, Greece.

N DermitzakiNeonatal Intensive Care Unit, University Hospital of Ioannina, Medical School, University of Ioannina, Ioannina, Greece.

V G XydisDepartment of Clinical Radiology and Imaging, University Hospital of Ioannina, Medical School, University of Ioannina, Ioannina, Greece.

A DrougiaNeonatal Intensive Care Unit, University Hospital of Ioannina, Medical School, University of Ioannina, Ioannina, Greece.

University Hospital of Ioannina · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 DESCRIPTION: We 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.

Indexed as

associated anomaliesCorpus callosum agenesisinfantslaryngomalacia

Identifiers

PMID37324044

PMCPMC10266326

OpenAlexW4380871844

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.