Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child

Abstract

Congenital microcephaly, defined as a head circumference more than 2 standard deviations below the mean, results from a primary defect in neural tissue development (not bone development) and the resulting aberrant closure of the cranial sutures.1 It is therefore not surprising that most cases of congenital microcephaly are associated with mental retardation, various syndromes and chromosomal abnormalities.2–14 Motor and speech development are often delayed, and hyperactivity and mental retardation are common. In general, life expectancy is low, as is the prognosis for normal brain function.15–17 Multiple associations exist between microcephaly and abnormalities of the eye, such as Mirhosseini–Holmes–Walton (MHW) syndrome,2 Cohen syndrome,3 Seckel syndrome5 and Balci syndrome.6 All of these associations include various degrees of mental dysfunction, from severe retardation through structural brain defects to mild mental handicaps. We present a novel phenotypic variant: microcephaly with normal mentation and juvenile retinal dystrophy in an otherwise healthy boy with mildly dysmorphic features and normal brain structure.