Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11

Abstract

Two infants with chromosome 22q11 deletion syndrome were noted to have symmetrically enlarged Sylvian fissures on cranial MRI. We compared the size of the Sylvian fissures in neuroimaging studies from 17 other subjects with del 22q11 to age-matched disease controls. The mean anterior interopercular distance was used as an index of Sylvian fissure enlargement. Symmetric enlargement of the Sylvian fissures was present in 10 of 17 subjects with del 22q11. The age-incidence pattern, as well as follow-up scans in 2 patients, suggests delayed growth of the opercular region in these patients. Subjects with del 22q11 consistently had disproportionate enlargement of the left Sylvian fissure compared to the right. This observation suggests that a gene (or genes) in the deleted region affects the development of the left and right perisylvian cortex in different ways. Abnormal development of the operculum may explain some of the neurodevelopmental features that are common among individuals with 22q11 deletion syndrome.

The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients

“…Three patients were ataxic, including one previously reported patient with atrophy of the cerebellum . Additional CNS abnormalities included multicystic white matter lesions of unknown significance and perisylvian dysplasia (Bingham et al, 1997). Overall, the pattern of CNS abnormalities was diffuse and overlapped with that seen in some cases of Opitz/GBBB syndrome (Guion-Almeida and Richieri-Costa, 1992;MacDonald et al, 1993;Neri et al, 1987).…”

“…As noted previously, many neurologic symptoms are localized structurally to the midline of the nervous system . However, others, such as open operculum and the asymmetric crying facies syndrome are not associated with midline CNS abnormalities (Bingham et al, 1997;Cayler, 1969;Giannotti et al, 1994;Levin et al, 1982;Sanklecha et al, 1992;Silengo et al, 1986).…”

Velo-cardio-facial syndrome: A distinctive behavioral phenotype

“…There has been a case report of presumed cerebellar degeneration in a patient with VCFS [Lynch et al, 1995], but this was based on a single CT study on a 34-year-old patient who had not had previous imaging studies of the cerebellum. Another report has suggested that an enlarged Sylvian fissure is a feature of VCFS [Bingham et al, 1997], but similar findings have not been reported by other clinicians or researchers. In my own review of over 100 MRI studies of individuals with VCFS, including neonates and infants, Sylvian fissure anomalies have not been found.…”

22q11.2 Deletion Syndrome: Genetics, Neuroanatomy and Cognitive/Behavioral Features Keywords

“…Relative to typically developing children, children with 22q11.2 Deletion Syndrome exhibit reductions of approximately 11% in total brain volume (Eliez et al, 2000;Kates et al, 2001). Others have similarly reported a wide range of brain abnormalities in children with 22q11.2 Deletion Syndrome including increased midsagittal corpus callosum areas and enlarged Sylvian fissures (Bingham et al, 1997;Eliez et al, 2000). Volumetric reductions of the posterior fossa and cerebellum (Eliez et al, 2000), and alterations in the caudate nucleus Kates et al, 2004;Sugama et al, 2000) have also been reported in patients with 22q11.2 Deletion Syndrome.…”