Navigating the Uncommon: "Juvenile-Onset Huntington Disease".
Anmol Aatli, Smriti Saryan, Rachna Sehgal et al.
✦ AI-curated · Sources linked
Case in brief
A 12-year-old girl presented with stroke and progressive neurocognitive decline, followed by choreo-athetoid movements, worsening dystonia, and epilepsy. Diffuse cortical involvement, predominantly affecting the frontal and parietal lobes, was associated with impaired speech and bladder and bowel control. Despite no significant family history, genetic evaluation established juvenile-onset Huntington disease. The report also describes diagnostic and management challenges, including surgical intervention for difficult-to-control dystonia.
What made this case unusual
The presentation began with stroke and progressive cognitive decline before the movement disorder became prominent, and there was no significant family history—features that complicated recognition of juvenile-onset Huntington disease.
Diagnostic / clinical pearl
In a child with progressive neurocognitive decline and evolving choreo-athetoid movements or dystonia, genetic evaluation may establish Huntington disease even when the family history is not significant.