Short Reports
Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age

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Abstract

Bardet-Beidl syndrome (BBS) is an autosomal recessive disorder predominantly characterized by dysmorphic distal extremities, obesity, renal abnormalities, hypogenitalism, and varying degrees of mental retardation.1, 2 Other less common abnormalities are cardiac and hepatic diseases, anal atresia, cerebellar dysfunction, and, in rare cases, nystagmus. This is a report of a child with Bardet-Biedl syndrome who presented at 15 months of age with a horizontal and rotary nystagmus as the initial sign of this disorder.

J AAPOS 2001;5:262-4.

Section snippets

Case report

The patient, a 12-year-old white male, was a product of a term gestation and born by a normal spontaneous vaginal delivery. The parents were nonconsanguineous and were of Italian and Irish origin. He was the second of 3 children. At birth, he weighed 3.64 kg, and by 1 year of age, he weighed more than 13.64 kg (despite careful dietary control), placing him above the 95th percentile for weight. At 15 months of age, the parents noted that the child's eyes were moving back and forth. Neurologic

Discussion

This patient has a mild form of Bardet-Beidl syndrome. This diagnosis is supported by the following clinical signs: obesity, mild retardation, renal abnormalities, mild syndactyly of the hands, hypogonadism, and severe retinitis pigmentosa.3 Also, this patient has hypertension. Hypertension is seen in 60% of patients with Bardet-Beidl syndrome. Obesity can be present from early infancy. Postaxial polydactyly, although considered a major criteria, is seen in only 58% of patients with this

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Reprint requests: Maria A. Musarella, MD, FRCS(C), Long Island College Hospital Department of Ophthalmology, Brooklyn, NY 11201 (e-mail: [email protected]).

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