Alström syndrome: Report of 22 cases and literature review
Section snippets
Patients and methods
The 22 patients presented have been examined over the past 10 years at The Great Ormond Street Hospital for Children. This report has been prepared using a retrospective review of case notes, and patients have been recalled for follow-up examination, or recent data have been obtained from their current physicians. Electrophysiologic recordings were obtained without sedation. Silver-silver chloride electroencephalographic electrodes were attached to the lower eyelid, within 1 cm of the eyelid
Results
We report 22 cases of AS from 14 families (3 with consanguinity). There are 11 females and 11 males. Two patients (cases 10 and 11) have first-cousin parents and four normal siblings. One patient (case 18) has one unaffected sister, four further siblings died, and the parents are first cousins. One patient (case 22) also has first-cousin parents. In 1989, we had reported 7 of these 22 patients as having atypical Leber’s congenital amaurosis with cardiomyopathy before the diagnosis of AS was
Discussion
We believe that AS is a distinct condition from BBS (Table 3), but there may be difficulties in distinguishing the phenotypes, particularly in patients without polydactyly and in those who have a cone-rod retinal dystrophy.
Acknowledgements
The authors thank the doctors involved in the care of these patients who have referred their cases and provided us with reports: Mr. C. M. Bailey, Dr. M. Crouchman, Professor J. E. Deanfield, Dr. I. Ellis, Professor A. R. Fielder, Professor A. Garner, Mr. A. N. Johns, Dr. D. L. Kennaird, Professor B. Lake, Professor S. Lambert, Mr. A. T. Moore, Dr. P. G. Rees, Dr. G. S. Snelling, Dr. T. Sirimanna, Dr. R. Stanhope, Mr. A. D. McG Steele, Professor R. Tattersall, Dr. M. H. Thompson, Dr. J. Wilson,
References (46)
- et al.
The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies
J Neurol Sci
(1969) - et al.
Ophthalmologic and systemic manifestations of Alström’s disease
Am J Ophthalmol
(1986) - et al.
Late onset dilated cardiomyopathy in a unique familial syndrome of hypogonadism and metabolic abnormalities
Am Heart J
(1987) - et al.
Longitudinal study of the early electroretinographic changes in Alstrom’s syndrome
Am J Ophthalmol
(1993) - et al.
Natural history of Alstrom syndrome in early childhoodonset of dilated cardiomyopathy
J Pediatr
(1996) - et al.
A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance
Am J Med
(1976) - et al.
Follow-up and diagnostic reappraisal of 75 patients with Leber’s congenital amaurosis
Am J Ophthalmol
(1989) - et al.
Patterns of rod and cone dysfunction in Bardet-Biedl syndrome
Am J Ophthalmol
(1990) - et al.
Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome
Am J Ophthalmol
(1988) - et al.
The importance of renal impairment in the natural history of Bardet-Biedl syndrome
Am J Kidney Dis
(1996)