Resolution of the Diagnostic Odyssey in a Familial Form of Hackmann-Di Donato Syndrome With Structural Brain Abnormalities.
Célia Gérard, Eric Olinger, Dana Dumitriu et al.
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Case in brief
A male patient with a familial form of Hackmann-Di Donato syndrome was found to carry an inherited pathogenic NKAP variant, identified by trio exome sequencing. His presentation included structural brain findings on MRI, with stable white matter lesions. Unlike previously reported cases, he had no cardiac malformation. The report also compared his findings with published cases and described him as the oldest known patient with a pathogenic NKAP variant.
What made this case unusual
The combination of stable white matter lesions on MRI and absence of a cardiac malformation differed from previously reported cases. The authors note that neuroradiological findings may belong to the syndrome’s clinical spectrum but have not been systematically assessed.
Diagnostic / clinical pearl
Trio exome sequencing can identify an inherited pathogenic NKAP variant in familial Hackmann-Di Donato syndrome; brain MRI may reveal white matter lesions.