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*D44l 4Wk- Described May Come to Light J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.50.4.489 on 1 April 1987. Downloaded from Letters 489 It might be argued that this woman 3 Tagliavini F, Pietrini V, Pilleri G, Trabattoni Her late father had a similar lifelong tremor. suffered from two distinct disorders, initially G, Lechi A. Case report. Adult meta- She had no other neurological symptoms, a personality disorder, and then later and chromatic leukodystrophy: clinicopatho- and examinations were normal except for coincidentally developing metachromatic logical report of two familial cases with slow the tremor described. Computed tomog- leukodystrophy. However, the changes in course. Neuropathol Appl Neurobiol 1979; raphy of the brain with selective thin sec- 5:233-43. showed no her personality are very much of the type 4 Markiewicz D, Adamczewska-Goncerzewicz tioning of the posterior fossa described in other cases of adult meta- Z, Zelman I, Dymecki J, Bieniasz J. A case abnormalities and one magnetic resonance chromatic leukodystrophy.2-467 The of metachromatic leukodystrophy with a imaging of the brain was normal. She extended period before clearly organic chronic course. (Clinical-morphological- refused spinal fluid examination. Standard symptoms appeared is, however, atypical. biochemical study.) Neuropatologia Polska electroencephalogram (EEG) was normal An alternative is to suggest that she had 1 978;16:575-85. and EEG recordings during tremor showed juvenile metachromatic leukodystrophy. 5 Schipper HI, Seidel D. Computed tomography no time-locked cortical potentials (myo- However, the pattern of onset, especially the in late onset metachromatic leukodystrophy. clonus). Masseter reflex latencies and ampli- Neuroradiology 1984;26:39-44. tudes, blink reflex studies and facial nerves lack of neurological signs after 18 years of 6 Manowitz P, Kling A, Kohn H. Clinical course illness and the normal EEG, make this of metachromatic leukodystrophy present- compound muscle action potential ampli- highly unlikely. ing as schizophrenia (a report of two living tudes and latencies were normal. Facial, Adult metachromatic leukodystrophy is a cases). J Nerv Ment Dis 1978;166:500-6. tongue and masseters electromyograms rare condition, with 15 cases reported 7 Besson JAO. A diagnostic pointer to adult (EMG) were normal. Synchronous 5-6 Hz between 1977 and 1983,' and it is therefore metachromatic leukodystrophy. Br J tremor with burst duration of 75 to 125 ms not surprising that the natural history is Psychiatry 1980;137:186-7. and 600-800,pV amplitude was recorded 8 Kihara H, Porter M, Fluharty A. Enzyme from risori muscles with concentric needle incompletely documented. At present there replacement in cultured fibroblasts from is no biological marker to distinguish the electrodes (TECA CF 25, 26 gauge; TD 20 metachromatic leukodystrophy. In: Bergsma Tremor appeared adult form from other metachromatic D, Desnick RJ, Bernlohr RW, Krevit W, EMG recording system). leukodystrophy subtypes, although the eds. Enzyme Therapy in Genetic Diseases on moderate contraction effort (figA) and assay of intracellular cerebroside sulphatase (Birth Defects: Original Article series, Vol was suppressed by maximal contraction of activity8 9 may prove to be of value when IX, No 2) 1973. Baltimore: Williams and the muscles (figC). Unilateral contraction Wilkins, for the National Foundation- induced ipsilateral tremor (fig B). Right arm sufficient data have been collected. Thus, Protected by copyright. we should March of Dimes. median sensory potential was normal. The when subdividing the disease rely VT. Studies on meta- more on the pattern of clinical features and 9 Muller P, Pil H, Muelen patient greatly improved with oral pro- chromatic leukodystrophy. Part 1. Clinical, pranolol 80 mg a day. investigations, using age of onset and time morphological and histochemical obser- course as a rough guide only, accepting that vations in two cases. J Neurol Sci in these areas there will be an overlap with 1969;9:567. other subtypes. It seems possible that as psychiatrists Accepted I August 1986 become more aware ofthe condition, and of the availability of an enzyme marker test for it, other examples similar to the patient just *D44l 4wk- described may come to light. Tremors of the smile Our thanks are due to Dr I Card, High Ob & Royds Hospital, for referring this case, Dr - -L- iii -IL -.L AL Sir: It is our observation that facial tremors JL .-II -jdib- for the "W -1 Fenson, Guy's Hospital enzyme on muscle contraction can occur in con- iR -Twf -7 -y 'T assays, and to the National Hospital Queen ditions generalised tremors; the MRI scan. Dr Robin Jacoby producing Square for for example, multiple sclerosis, valproate http://jnnp.bmj.com/ kindly provided in-patient care at Bethlem toxicity, alcohol withdrawal and anxiety. Royal Hospital. Recently we encountered an unusual case of N R FISHER a patient exhibiting isolated bilateral idio- S J COPE pathic tremor of the face induced only by A LISHMAN W spontaneous or volitional contraction of the 0 4_W I The Bethlem Royal and Maudsley Hospitals, risori muscles. and the Institute of Psychiatry, A 27 year old female had a 9 year history London SES 8AZ, UK. of progressive tremor of the perioral facial 01 muscles induced either by spontaneous 40Oms on September 27, 2021 by guest. References smiling or volitional contraction. Forceful smiling abolished the tremor and seemingly Fig Tremor recorded with concentric I Kolodny EH, Moser HW. In: Stanbury JB, there was a set point of contraction effort needle electrodes. (A) 5-6 Hz synchronous Wyngarden JB, Fredrickson DS, Goldstein (motor unit recruitment) required for tremor ofrisori muscles on moderate effort of JL, Brown MS, eds. The Metabolic Basis of tremor production. Fatigue during con- contraction. (B) Unilateral tremor of Inherited Disease. 1983:881-905. increased the intensity 2 Austin J, Armstrong D, Fouch S, et al. Meta- traction and stress risorius induced by ipsilateral moderate effort chromatic leukodystrophy VIII. In adults: (amplitude) of the tremor but reduced its contraction. (C) Tremor is suppressed by diagnosis and pathogenesis. Arch Neurol frequency. Unilateral muscle contraction of maximum effort ofcontraction ofrisori 1968;18:225-39. the risorius induced ipsilateral tremor only. muscles (only one side shown in thefigure). J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.50.4.489 on 1 April 1987. Downloaded from 490 Letters Facial movement disorders, which should Departments of Medicine, times they are referred to as "Brown- be distinguished from tremors of the smile, Palmetto General Hospital Sequard syndrome in reverse" when the are many and include Parkinsonian isolated and Hialeah Hospital, classical pattern of sensory-motor deficit is jaw tremor, oculomandibular dystonia Florida, replaced by corresponding sensory and (Meige's), tardive dyskinesia ("rabbit and the Department of Neurology, motor irritative disturbance.2 It has not yet sign"), myorrhythmia,' hemifacial spasms, University of Miami School of Medicine, been possible to draw any conclusion as to segmental myoclonus (branchial), myo- Miami, Florida, USA the site of the lesion responsible for the par- kymia, focal motor seizures, Gilles de la oxysmal attacks and there are no reports in Tourette's syndrome and habit spasms. Address for reprint requests: Palmetto General the literature of cases studied with Magnetic Patients with reading epilepsy may exhibit Medical Plaza, 7100 West 20th Avenue, Suite 401, Resonance Imaging (MRI). tremor of the jaw while reading which at Hialeah, Florida 33016, USA (Dr Jacome). We observed the case of a previously times precedes a generalised tonic clonic sei- healthy woman, a school-teacher, aged 48 zure.2 In focal reflex myoclonus, sensory years, who developed paraesthesia (feeling precipitants are evident and a central ner- References of heat) with sensory deficit for heat, touch vous system lesion is present.3 In con- and pain on the left of her body up to the traction I Mascucci EF, Kurtzke JF, Saini N. Myo- fasciculation, subtle volitional rrhythmia: a widespread movement disor- level of her neck. The degree of sensory dis- contraction of enlarged regenerating motor der. Brain 1984;107(pt 1):53-79. turbances increased for 3 days, when weak- units in atrophic muscles can be seen in 2 Geschwind N, Sherwin I. Language-induced ness at the right limbs appeared and chronic denervating illnesses like amy- epilepsy. Arch Neurol 1967;16:25-31. gradually increased during the following 4 otrophic lateral sclerosis or poliomyelitis, 3 Sutton GG, Mayer RF. Focal reflex myo- days. The patient was admitted to hospital and may simulate spontaneous tremor of clonus. J Neurol Neurosurg Psychiatry on 14 June 1985. Neurological examination muscle segments.4 Because of axonal mem- 1974;16:207- 17. showed severe sensory deficit on the left of brane in 4 Daube JR. Needle Examination in Electro- hyperexcitability neuromyotonia, myography. American Association of the body up to C3 dermatome, with muscle contraction may trigger outlasting Electromyography and Electrodiagnosis. impaired sensitivity to heat, touch and pain, spasms of delayed relaxation resolving into Minimonography No 11, 1979:17. sensory deficit on the right of the body up to myokymia and fasciculations mimicking 5 Lance JW, Burke D, Pollard J. Hyper- C3 dermatome, with impaired proprio- tremor on muscle contraction.5 Common excitability of motor and sensory neurons in ceptive sensation and sensor ataxia, mild variety muscle
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