A case of Kabuki syndrome with congenital pulmonary airway malformation.
Lan Yang, Qinghui Chen, Weifang Zhou et al.
✦ AI-curated · Sources linked
Case in brief
A child with delayed physical growth and neurological, psychological, and intellectual development had facial features including arched eyebrows and elongated eyelids slanting downward. Chest computed tomography showed congenital pulmonary airway malformation (CPAM). Whole-exome sequencing identified a heterozygous KMT2D missense variant, Exon38c.10481C>T (p.Pro3494Leu), described as a possible pathogenic mutation; both parents were wild-type. The findings supported a diagnosis of Kabuki syndrome (KS) with concurrent CPAM.
What made this case unusual
The case combined KS with CPAM, an association the authors describe as rarely reported, alongside a KMT2D variant they state had not previously been reported.
Diagnostic / clinical pearl
In a child with developmental delay and characteristic facial features, chest imaging may reveal a concurrent pulmonary malformation; genetic testing can help support the diagnosis of KS.