What Syndrome Is This?

Abstract

A 10-year-old boy was referred to our service with a diagnosis of albinism. He is the second child of consanguineous parents (first cousins), whose first boy also presented with generalized hypopigmentation and died in the neonatal period from respiratory distress. The family is of mixed Portuguese, Amerindian and Afro-Brazilian origin.Pregnancy was complicated by maternal hypertension, which was treated with methyldopa and chlorpromazine. Delivery was by cesarean section because of preeclampsia, at approximately 36 weeks. The infant's weight was 2230 g and length was 45 cm.His neuropsychomotor development was globally delayed-he walked at age 5 years and never acquired verbal language. He has attended a school for handicapped children since the age of 2 years when mental retardation became evident and hearing loss was diagnosed. He has chronic anemia as well as occasional diarrhea, but no recurrent infections or seizures.On physical evaluation, his weight was 25 kg (3%), length was 120 cm (<3%), and occipito-frontal circumference (OFC) 52 cm (normal). He had a thin build, dolichocephaly, high forehead, long face, mild ptosis, high arched palate, dental malocclusion, prominent central upper incisors, and bilateral cryptorchidism (Fig. 1). Cutaneous and hair hypopigmentation was generalized and included the irises, which were pink and had a cartwheel appearance (Fig. 2). Neurologic evaluation revealed severe mental retardation, absence of verbal language, mild motor incoordination, and nystagmus.Complementary studies included TORCH serologies, amino acid chromatography, and a single hemogram, all of which had results within the normal limits. Ophthalmologic evaluation found no lens opacities; however, fundoscopy findings were compatible with ocular albinism. Brain computed tomography showed mild lateral ventricle asymmetry. He also had bilateral severe sensorineural hypoacusia.