Laurence Moon Biedl Syndrome

Abstract

THE syndrome, consisting of obesity, hypogenitalism, polydactyly, mental retardation, and retinal changes of the retinitis pigmentosa type, is recognized as a clinical entity. It is, however, unusual to find all the manifestations of the syndrome in a single case. The case described here is interesting in that it presented as a complete syndrome. Case ReportA boy aged 10 years was brought to the children's out-patient department of the Patna Medical College Hospital on account of his abnormal flabbiness and mental deficiency. In addition he had not been able to see very well for some time, particularly at night.He was the third child of his parents, who were healthy and not consanguineous. The family, traced to four generations on the father's side and three on the mother's, was essentially normal with no history of consanguinity. Two children, a brother and sister, had died in infancy, and as far as could be ascertained showed no ocular or general manifestations of the syndrome. The patient's surviving sister was 12 years old and normal in all respects. His younger brother was aged 4 years, was quite intelligent, but had supernumerary fingers-seven on the right hand, and six toes on both feet. His ocular and general examinations revealed no other abnormality.Examination.-The patient was obese, and of short stature (height 3 ft 4 in.), and weighed 8 stone. He was dull and listless, and had not started speaking until the age of 5 years.There was a marked accumulation of fat in the abdominal wall, thighs, hips, and shoulders. Breast and abdomen were pendulous. The genitalia were under-developed with testis descended in scrotum. A supernumerary finger was attached to the little finger of each hand and the right little toe.Ophthalmic Examination.-There was a fine horizontal nystagmus more marked in darkness. The visual acuity in both eyes was reduced to counting fingers at one metre only. The patient walked unaided in the day, but found great difficulty at night or in darkness and often had to be guided.The extra-ocular muscles were normal and the pupils were normal in size and reactions. The ocular media were clear.Fundus Oculi.-Both discs were pale and waxy-looking with a normal physiological cup. The retinal arteries showed marked attenuation, many appearing as mere threads. Pigment was irregularly distributed all over the fundus with no preference for the equatorial or macular areas. The pigment deposits were varied in size and shape and arranged *