## Abstract Myoclonus–dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. An 8‐year‐old boy presenting with early onset, medically intractable, MDS due to a mutation in the ϵ‐sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the glo
Myoclonus-dystonia in 18p deletion syndrome
✍ Scribed by Markus C. Kowarik; Sabine Langer; Corinna Keri; Bernhard Hemmer; Konrad Oexle; Juliane Winkelmann
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 273 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
✦ Synopsis
Mancozeb is a ethylene-bis-dithiocarbamate (EBDC) fungicide that contains zinc and manganese. 1 In humans, chronic EBDC inhalation has been associated with neurocognitive impairment and parkinsonism 2 while acute intoxication elicit reversible headache, dizziness, and seizures in a few cases, all of which were rapidly reversible. 3 We report a case of severe and reversible parkinsonism in a man after the accidental oral ingestion of mancozeb.
A 55-year-old man with history of alcohol abuse was admitted with a 4 days alcohol withdrawal. At examination, he was found to be alert, oriented, and showed postural tremor and diaphoresis. Treatment with tiapride (300 mg/day during 4 days) and thiamine was started. On the fourth day of hospitalization, he was diagnosed of acute cholecystitis and was surgically treated. Seven days later, he was found to be confused. At physical examination, the patient was alert, slow minded, and disoriented. He had a masked facies (video, segment 2) dysarthria and hypophonia resulting in his speech being unintelligible. He was noted to have poverty and slowness of movements (video, segment 2) and generalized cogwheel rigidity (video, segment 1), particularly in the jaw. His posture was stooped and he was unable to walk without assistance (video, segment 3). Bilateral resting tremor and isolated reflex myoclonus were observed. Startle reflex was pathologic. All deep tendon reflexes were brisk. He recognized having intake accidentally 5 g of a vegetable fungicide containing mancozeb.
Laboratory test showed normal concentrations of blood glucose, creatinine, alkaline phosphatise, total bilirrubin, aspartate aminotransferase, and alanine aminotransferase level. c-Glutamyl transferase was 112 U/L (normal range 6-38). Hepatitis B and C serologies were negative. Serum ammonium was within normal range but serum or urine manganese was not assessed. Cerebral magnetic resonance (MR) showed moderate generalized atrophy. Electroencephalogram was normal. SPECT examination using [ 123 I]FP-CIT showed a normal dopamine transporter (DAT) uptake in both putamen. Levodopa-carbidopa therapy was initiated with no motor improvement and was interrupted few weeks later. During the following 8 months, the neurological symptoms spontaneously remitted and 16 months later, he was still abstinent and without signs of parkinsonism.
📜 SIMILAR VOLUMES
## Abstract Mutations in the ϵ‐sarcoglycan (__SGCE__) gene have been associated with DYT11 myoclonus‐dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11‐MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techn
## Abstract This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q‐ syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36‐year‐old woman with an 18q terminal deletion [Kary