Unilateral nystagmus in an infant with acrocallosal syndrome

Abstract

Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation. There are only 3 reports of ACS associated with ocular findings, including optic atrophy, esotropia and anophthalmus. We report on the first known Turkish case of ACS associated with unilateral nystagmus in addition to several neurologic abnormalities such as absence of the adhesio interthalamica and many others. A physically and mentally underdeveloped one year-old girl was evaluated for macrocephaly, polydactyly and left-sided nystagmus, which was not recognized until the fourth month. Magnetic resonance imaging revealed external hydrocephaly, triventricular hydrocephaly, midline brain abnormalities including partial agenesis of the CC, cavum septi pellucidi, cavum vergae, and absence of the adhesio interthalamica. The following anomalies were also noted; high arched palate, short nose with broad nasal bridge and anteverted nostrils, macrocephaly, frontal bossing, open and down turned angles of the mouth, hypertelorism, postaxial polydactyly of the left foot, hypertrichiasis, and hypertrichosis. On the basis of these findings, a diagnosis of ACS was made. In addition to neuroimaging, systemic research is needed in all patients presenting with asymmetric nystagmus as such a nystagmus may be associated with various external developmental abnormalities in addition to central nervous system involvement. Our case indicates that asymmetric nystagmus and midline brain abnormalities may also be included in the diagnostic criteria of ACS.