Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder.
Daniel Charouf, Andrea Accogli, Fadi F Hamdan et al.
✦ AI-curated · Sources linked
Case in brief
A patient with a novel de novo heterozygous missense variant in CLTC underwent brain MRI, which showed pontine hypoplasia and cerebellar atrophy. These findings were reported in the context of a neurodevelopmental disorder associated with variable global developmental delay, intellectual disability, and structural brain abnormalities. The authors also reviewed neuroimaging in 30 individuals, including this patient, and re-evaluated available scans. Their review supported a possible association between missense variants and a more severe phenotype, while identifying the patient’s imaging findings as additions to the recognized spectrum.
What made this case unusual
The MRI showed pontine hypoplasia and cerebellar atrophy, abnormalities rarely described in CLTC-related disorder.
Diagnostic / clinical pearl
CLTC-related disorder can include pontine hypoplasia and cerebellar atrophy, in addition to reported corpus callosum and white matter anomalies.
Why it matters
Recognizing these imaging findings may broaden consideration of CLTC-related disorder when evaluating neurodevelopmental presentations.