Huppke–Brendel (HB) syndrome is an autosomal recessive disease caused by variants in the
We report the first adult patient with HB.
The patient suffered from moderate intellectual disability, partial hearing loss, spastic ataxia, hypotonia, and unilateral tremor of parkinsonian type. At age 29, she was diagnosed with WD based on neurology, elevated 24H urinary copper, low ceruloplasmin, and pathological 65Cu test. Approximately 25 years later, genetic testing did not support WD or aceruloplasminemia. Full genome sequencing revealed two likely pathogenic variants in
Adult patients with HB exist and may be confused with WD. Low ceruloplasmin and the absence of