Objectives-To evaluate neuromuscular signs and symptoms in patients with newly diagnosed hypothyroidism and hyperthyroidism. Methods-A prospective cohort study was performed in adult patients with newly diagnosed thyroid dysfunction. Patients were evaluated clinically with hand held dynamometry and with electrodiagnosis. The clinical features of weakness and sensory signs and the biochemical data were evaluated during treatment. Results-In hypothyroid patients 79% had neuromuscular complaints, 38% had clinical weakness (manual muscle strength testing) in one or more muscle groups, 42% had signs of sensorimotor axonal neuropathy, and 29% had carpal tunnel syndrome. Serum creatine kinase did not correlate with weakness. After 1 year of treatment 13% of the patients still had weakness. In hyperthyroid patients 67% had neuromuscular symptoms, 62% had clinical weakness in at least one muscle group that correlated with FT4 concentrations, but not with serum CK. Nineteen per cent of the patients had sensory-motor axonal neuropathy and 0% had carpal tunnel syndrome. The neuromuscular signs developed rapidly, early in the course of the disorder and were severe, but resolved rapidly and completely during treatment (average time 3.6 months). Conclusions-Neuromuscular symptoms and signs were present in most patients. About 40% of the hypothyroid patients and 20% of the hyperthyroid patients had predominantly sensory signs of a sensorimotor axonal neuropathy early in the course of thyroid disease. Weakness in hyperthyroidism evolved rapidly at an early stage of the disorder and resolved completely during treatment, suggesting a functional muscle disorder. Hand held dynamometry is sensitive for the detection of weakness and for the clinical evaluation of treatment eVects. Weakness in hypothyroidism is more diYcult to treat, suggesting myopathy. (J Neurol Neurosurg Psychiatry 2000;68:750-755 and possibly also polyneuropathy.5 6 The reported prevalence of these signs and symptoms is variable. Few prospective studies on this topic have been performed. [7][8][9][10] In retrospective studies, published in the early 1980s, 1 11 the prevalence of neuropathy in hypothyroid patients varied between 10% and 70% and that of myopathy between 20% and 80%, whereas the prevalence of myopathic features in hyperthyroidism varied between 60% and 80% of the patients. The aims of this study were (1) to investigate the prevalence of neuromuscular signs and symptoms in patients with newly diagnosed hypothyroidism or hyperthyroidism; (2) to evaluate electrodiagnostic evidence of neuromuscular dysfunction; (3) to study the eVects of treatment; (4) to correlate the severity and duration of thyroid dysfunction with the serum creatine kinase (CK) concentration and the presence of neuropathy and myopathy; and (5) to compare the patterns of neuromuscular involvement between hypothyroidism and hyperthyroidism. Patients and methods PATIENTSAll adult patients with newly diagnosed thyroid dysfunction (abnormal serum concentrations of thyroid stimulati...

A 36-year-old man with a history of migraine without aura, presented with recurrent bouts of severe headache, perception of flashing lights in both visual fields, and transient bilateral neurological deficits. In view of his history, migraine with aura was considered. Ancillary investigations showed bilateral extracranial internal carotid artery dissection. This case illustrates that when attacks of severe headache with scotomata and transient bilateral neurological deficits occur in a patient with a history of migraine, the diagnosis of carotid artery dissection should be considered, especially when the pattern of headache is different or when some clinical characteristics have not been experienced previously.Key words: carotid artery, dissection, migraine Abbreviations:ICA internal carotid artery, ICAD internal carotid artery dissection (Headache 1997;37:109-112) Repeated bouts of headache associated with transient visual, motor, and speech disturbances in young or middle-aged patients with migraine may be suggestive of migraine with aura. 1 However, when the pattern of headache or neurological symptoms are different from previous attacks, another cause may be involved, including dissection of one or more cervicocephalic arteries. 2,3 This is illustrated in the following patient. CASE HISTORYA 36-year-old, right-handed man had a history of migraine without aura. Two weeks before admission, he suddenly experienced severe left-sided occipital headache radiating to the retro-orbital region. There was no history of trauma or physical exertion. The headache resolved spontaneously within 2 days. One week later, he suddenly noted flashing lights in both eyes, followed by markedly decreased visual acuity, light-headedness, left periorbital headache, and weakness of the extremities. Weakness persisted for a few minutes on the right side, and for 2 hours on the left side. The headache progressively waned within 24 hours. Five days later, left-sided frontal headache, light-headedness, and bilaterally decreased visual acuity recurred, accompanied by bilateral weakness of the extremities, more pronounced on the left. The neurological signs disappeared within 30 hours.Two days later, bifrontal headache and perception of flashing lights in both visual fields recurred, accompanied by left hemiparesis and dysarthria. As the left-sided weakness had not disappeared within 48 hours, he was referred to the emergency department. Physical examination showed a blood pressure of 200/120 mm Hg, dysarthria, left hemiparesis, left sensory and visual neglect, generalized hyperreflexia, and bilateral extensor plantar responses. Ophthalmological examination was normal.Blood chemistry and hematology were normal. There was no evidence of coagulopathy, inflammatory, or autoimmune disease. Electro-cardiogram and chest x-ray were normal. Brain CT showed a right parietal infarction.Color duplex ultrasound showed no stenosis at the level of the carotid bifurcations, but was suggestive of a high-grade stenosis at the most distal part of the righ...

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder, with autosomal recessive inheritance, which is a result of the deficiency of activity of arylsulphatase A (ASA). The age of onset of this disease ranges from the late-infantile period to late middle-age, and appears to be related in part to the amount of residual enzyme activity. Among known mutations, two are particularly frequent: the 459+ GA associated with late-infantile-onset MLD, and the C2381T associated with juvenile or adult MLD. These two mutations together account for 50% of the MLD alleles and the C2381T is present in about 50% oftheadultalleles.Athirdfrequentmutation,T799G, has been described (1). This mutation is associated with about 9% of the adult MLD alleles.We have analysed mutations in the ASA gene of an exceptionally late-onset MLD patient (a 62-yearold man) described by Duyff and Weinstein (2). We determined that this patient is a compound heterozygote for the C2381T and the T799G mutations. Both alleles encode ASA with residual enzyme activity. To our knowledge, only 1 patient with later onset has been clinically described (3); his genotype is unknown. Only one case with an identical genotype hasbeenreported(4,5);namely,a44-year-oldwoman whose clinical picture was characterised by polyneuropathy and depression, followed by dementia. Our patient and the patient described by Pilz et al. (4) had similar, very low in 6itro ASA activity toward the artificial substrate para-nitrocathecol sulphate. Moreover, our patient had an elevated sulphatide excretion in urine (80 nmol/mmol creatinine; late-infantile MLD cases had values of 32 -400 nmol/mmol creatinine; normal controls had values of B 3 nmol/ mmol creatinine), as determined by JEM Groener, MD, Department of Pediatrics and Clinical Genetics, Academic Hospital, Leiden, the Netherlands. The biochemical phenotype, therefore, cannot explain the exceptionally late-presenting clinical phenotype.This patient is presently manifesting a frontal lobe syndrome with severe behavioural disorder. Signs of polyneuropathy are still clinically undetectable; only the neurophysiological examination reveals mild generalised slowing in motor and sensory nerve conduction, which points to a mild demyelinating polyneuropathy. These data indicate that the ASA genotype alone, and its effects on in 6itro enzyme activity, can explain neither the very late onset of dementia nor the absence of clinical polyneuropathy in this patient. This implies that other, still unknown, genetic and/or nongenetic factors modify the expression of the ASA genotype.

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