Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

Abstract

A boy, born to first cousin parents of Algerian origin, first presented at the age of 9 years with growth failure, mental retardation, and dysmorphic facies. Progressive vitiligo developed from the age of 12 and distal duplication of the urethra was later recognised. The basis of this syndrome remains to be determined; autoimmune disease, chromosomal breakage syndromes, and other neurocutaneous syndromes have been excluded.Neurocutaneous syndromes are a well classified group of disorders, and new entities are described regularly. We report here a boy who presented with retarded growth, moderate microcephaly, mental retardation, progressive vitiligo, and urethral duplication. Neither immunodeficiency nor chromosomal breakage could be detected. Thus, this clinical association may represent a new syndrome.Case report This boy is the fourth child of first cousin Algerian parents whose first three children were normal. He was born in Algeria and his weight and length were said to be normal at birth. However, his psychomotor development was considered to be slower than it had been in his three sibs. The child was first admitted to our unit at the age of 9 years. His height was 115 cm (-3 SD), weight was 18-5 kg (-2 SD), and head circumference was 50 cm (-2 SD).