An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism.
A 36-year-old man with mucolipidosis type III alpha/beta presented with hypoactivity, mutism, muscle rigidity, and involuntary movement. The involuntary movement was interpreted to be tremor at rest on physical examination and surface electromyography, which revealed mostly asynchronous contractions at 3-4 Hz of the biceps and triceps brachii muscles. All these symptoms were consistent with abnormalities of parkinsonism, which is caused by an insult to the basal ganglia that permeates the entire basal ganglia-thalamocortical circuitry. This report is the first to present a case of mucolipidosis type III alpha/beta in association with parkinsonism.
Department of Pediatrics & Child Health, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
Munetsugu
M
Hara
Takahiro
T
Inokuchi
Takayuki
T
Taniwaki
Takanobu
T
Otomo
Norio
N
Sakai
Toyojiro
T
Matsuishi
Makoto
M
Yoshino
D000328:Adult; D004576:Electromyography; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000150:complications* / Q000000981:diagnostic imaging / Q000378:metabolism; D020734:Parkinsonian Disorders / Q000150:complications* / Q000000981:diagnostic imaging / Q000378:metabolism; D015899:Tomography, Emission-Computed, Single-Photon