LETTER TO THE EDITOR
FACIOSCAPULOHUMERAL DYSTROPHY, RETINAL VASCULATURE, AND SNEDDON’S SYNDROME Facioscapulohumeral (FSH) dystrophy and Sneddon’s syndrome are both rare conditions of variable clinical severity and obscure etiology. FSH dystrophy is usually a dominantly inherited condition; the pathology is generally dystrophic, but neurogenic and inflammatory cases also O C C U ~ Sneddon’s .~ syndrome is characterised by stroke in association with livedo reticularis, and is also dominantly inherited in some cases.233We have observed both conditions in the same family and have considered whether they might be linked. A 45-year-old woman was investigated because of cerebrovascular disease. At the age of 30 she had developed an acute left hemiparesis, and CT brain scan showed infarction in the territory of the right middle cerebral artery. She subsequently experienced transient episodes of right hemisphere and brain-stem ischemia. Widespread livedo reticularis led to the clinical diagnosis of Sneddon’s syndrome; no other cause of cerebral infarction was identified. Subsequent EMG revealed widespread myopathic change that had not been suspected clinically. She had a 27-year-old son with typical clinical and EMG features of FSH dystrophy. One of her asymptomatic children also had mild weakness consistent with FSH dystrophy and a myopathic EMG. In a recently reported series, 56 of 75 patients with familial or sporadic FSH dystrophy had abnormal retinal vasculature as assessed by fluorescein angiography, although only a small proportion had visual symptoms.
The changes included telangectasis, capillary closure, and leakage with microaneurysm formation.’ The significance of these retinal vascular changes in patients with FSH dystrophy is unknown, and no corresponding vasculopathy has been noted in muscle biopsies. In each of our patients, fluorescein angiography was normal. Thus we have failed to confirm an association of retinal vasculopathy either with FSH dystrophy or with Sneddon’s syndrome. Nevertheless it remains possible that these two conditions represent different manifestations of the same inherited genetic abnormality. R.J. Coleman D.A. lngram M. Swash The Departments of Neurology and Neurophysiology The London Hospital London E l United Kingdom 1. Fitzsimons RB, Gurwin EB, Bird AC: Retinal vascular ab-
normalities in facioscapulohumeral muscular dystrophy. Brain 1987;1 10:631 -648. 2. Rebollo M, Val JF, Garijo F, et al: Livedo reticularis and cerebrovascular lesions (Sneddon’s syndrome). Brain 1983; 106:965- 979. 3. Sneddon IB: Cerebrovascular lesions and livedo reticularis. Brit J D-td 1965;77:180-185. 4. Tyler FH, Stephens FE: Studies in disorders of muscle. 11. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family. Ann Intern Med 1950; 32:640-660.
MUSCLE & NERVE
August 1990
759
FACIOSCAPULOHUMERAL DYSTROPHY, RETINAL VASCULATURE, AND SNEDDON’S SYNDROME Facioscapulohumeral (FSH) dystrophy and Sneddon’s syndrome are both rare conditions of variable clinical severity and obscure etiology. FSH dystrophy is usually a dominantly inherited condition; the pathology is generally dystrophic, but neurogenic and inflammatory cases also O C C U ~ Sneddon’s .~ syndrome is characterised by stroke in association with livedo reticularis, and is also dominantly inherited in some cases.233We have observed both conditions in the same family and have considered whether they might be linked. A 45-year-old woman was investigated because of cerebrovascular disease. At the age of 30 she had developed an acute left hemiparesis, and CT brain scan showed infarction in the territory of the right middle cerebral artery. She subsequently experienced transient episodes of right hemisphere and brain-stem ischemia. Widespread livedo reticularis led to the clinical diagnosis of Sneddon’s syndrome; no other cause of cerebral infarction was identified. Subsequent EMG revealed widespread myopathic change that had not been suspected clinically. She had a 27-year-old son with typical clinical and EMG features of FSH dystrophy. One of her asymptomatic children also had mild weakness consistent with FSH dystrophy and a myopathic EMG. In a recently reported series, 56 of 75 patients with familial or sporadic FSH dystrophy had abnormal retinal vasculature as assessed by fluorescein angiography, although only a small proportion had visual symptoms.
The changes included telangectasis, capillary closure, and leakage with microaneurysm formation.’ The significance of these retinal vascular changes in patients with FSH dystrophy is unknown, and no corresponding vasculopathy has been noted in muscle biopsies. In each of our patients, fluorescein angiography was normal. Thus we have failed to confirm an association of retinal vasculopathy either with FSH dystrophy or with Sneddon’s syndrome. Nevertheless it remains possible that these two conditions represent different manifestations of the same inherited genetic abnormality. R.J. Coleman D.A. lngram M. Swash The Departments of Neurology and Neurophysiology The London Hospital London E l United Kingdom 1. Fitzsimons RB, Gurwin EB, Bird AC: Retinal vascular ab-
normalities in facioscapulohumeral muscular dystrophy. Brain 1987;1 10:631 -648. 2. Rebollo M, Val JF, Garijo F, et al: Livedo reticularis and cerebrovascular lesions (Sneddon’s syndrome). Brain 1983; 106:965- 979. 3. Sneddon IB: Cerebrovascular lesions and livedo reticularis. Brit J D-td 1965;77:180-185. 4. Tyler FH, Stephens FE: Studies in disorders of muscle. 11. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family. Ann Intern Med 1950; 32:640-660.
MUSCLE & NERVE
August 1990
759
