[Man aged 49 years suffering from progressive clinical picture with palatal tremor, segmental myoclonus, ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia and cognitive decline].
In this clinicopathological conference we discuss the case of a patient aged 49 years, who developed progressive clinical picture characterized by palatal tremor (PT), segmental myoclonus, cerebellar ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia, parkinsonism and cognitive decline. He died 10 years after onset. There was no family history of ataxia. Initially a diagnosis of cerebral Whipple's disease was given, but prolonged treatment with ampicilin and cloramfenicol did not modify the clinical course. Magnetic resonance imaging study showed cerebellar and brainstem atrophy. Electrophysiological examination revealed neurogenic electromyographic pattern and abnormal somatosensory and brainstem evoked potentials. Starting from symptomatic PT, as the guide sign, a presumptive pathological diagnosis of sporadic olivopontocerebellar atrophy (OPCA) was established, probably of multiple system atrophy (MSA) type. Neuropathological study demonstrated OPCA with preferential involvement of cerebellum but without glial inclusions. This case illustrates the great clinicopathological complexity of OPCA and that not all forms of sporadic OPCA may be included within MSA.
Berciano
J
J
Servicio de Neurología. Hospital Universitario Marqués de Valdecilla (UC). Santander. Spain. neuro@humv.es
Montón
F I
FI
Maeso
M C
MC
Ferrer
I
I
D001259:Ataxia / Q000209:etiology; D002531:Cerebellum / Q000473:pathology; D003704:Dementia / Q000175:diagnosis / Q000503:physiopathology; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000209:etiology; D009849:Olivopontocerebellar Atrophies / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000503:physiopathology; D013494:Supranuclear Palsy, Progressive / Q000503:physiopathology; D014202:Tremor / Q000209:etiology