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Progressive cerebellar disorders presenting in late middle age often have a structural, toxic, inflammatory, or endocrine basis. Having excluded these causes, many patients are given a clinical diagnosis of multiple systems atrophy type C, or idiopathic late-onset cerebellar ataxia, and not investigated further. Here we describe a sporadic cerebellar syndrome leading to the diagnosis of a rare metabolic disorder with important implications for treatment.
Case report.
A 58-year-old man presented with an 8-year history of gait unsteadiness, slurred speech, a few tonic/clonic seizures, and a decline in short-term memory. There was no relevant family history or consanguinity.
On examination, he had a cerebellar dysarthria with appendicular and gait ataxia. Deep tendon reflexes were preserved, and plantar responses flexor. His Mini-Mental State Examination test score was 19/23 at 51 years of age, and 21/30 at age 58, with an Addenbrooke cognitive assessment of 61/100.
Routine hematology, thyroid function, vitamin E, B12, and copper studies were normal. CSF examination revealed normal protein content, cell count, and no oligoclonal bands. Urinary amino and organic acids, hexosaminidase, and acylcarnitines were normal. Echocardiography was normal. An EEG showed a mild generalized …
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