What Syndrome Is This? Ruy Pires de Oliveira Sobrinho, M.Sc., M.D., and Carlos Eduardo Steiner, M.D., Ph.D. Departamento de Gene´tica Me´dica, Faculdade de Cieˆncias Me´dicas, Universidade Estadual de Campinas (Unicamp), Campinas, Sa ˜o Paulo, Brazil CASE REPORT A 10-year-old boy was referred to our service with a diagnosis of albinism. He is the second child of consan- guineous 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 hyperten- sion, which was treated with methyldopa and chlor- promazine. 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 handi- capped children since the age of 2 years when mental retardation became evident and hearing loss was diag- nosed. 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 cir- cumference (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 evalu- ation 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. Ophthal- mologic evaluation found no lens opacities; however, fundoscopy findings were compatible with ocular albin- ism. Brain computed tomography showed mild lateral ventricle asymmetry. He also had bilateral severe senso- rineural hypoacusia. WHAT SYNDROME IS THIS? Oculocerebral hypopigmentation syndrome of preus. DISCUSSION The association of cutaneous hypopigmentation and mental deficiency can be found in several conditions (1). When it is mild, it may be part of untreated phenylke- tonuria, Angelman syndrome, Prader-Willi syndrome, Cohen syndrome, and many others. Generalized, accentuated hypopigmentation occurs in various forms of albinism, although the classical forms of oculocuta- neous albinism are not considered to cause neurodevel- opmental disorders. However, some syndromic forms of albinism may present with mental retardation and deafness as associated features. Total or partial albinism with congenital deafness has been described with both an autosomal recessive (2) and autosomal dominant inheritance (3). Two forms of X-linked albinism are associated with congenital (4) or late-onset (5) deafness. Mental retardation is not present in any of these conditions. One patient with skin depig- mentation described as ‘‘marked vitiligo,’’ white hair, eyebrows and eyelashes with scattered black tufts, sen- sorineural hearing loss and mild mental retardation has been reported (6), with a probable autosomal recessive inheritance. On the other hand, the combination of mental retardation, oculocutaneous albinism, short stature and congenital deafness has been found in two Address correspondence to Dr. Carlos Eduardo Steiner, M.D., Ph.D., Departamento de Gene´tica Me´dica, Rua Tessa´lia Vieira de Camargo 126, Cidade Universita´ria, 13081-970 Campinas, SP, Brazil, or e-mail steiner@fcm.unicamp.br. Ó 2007 The Authors. Journal compilation Ó 2007 Blackwell Publishing, Inc. 313 Pediatric Dermatology Vol. 24 No. 3 313–315, 2007