Middle interhemispheric variant of holoprosencephaly in an asymptomatic adult.

Meltem Özdemir,Rasime Pelin Kavak,Aynur Turan

doi:10.1259/bjrcr.20190035

Abstract

Middle interhemispheric variant of holoprosencephaly is an uncommon subtype of holoprosencephaly which is characterized by a midline connection of the two cerebral hemispheres in the posterior frontal and parietal regions with the separation of the anterior frontal and occipital lobes. It usually presents in early childhood with facial dysmorphism, seizures, motor dysfunction and mental–motor retardation. We herein present an unusual case of middle interhemispheric variant of holoprosencephaly which was asymptomatic and incidentally found in adulthood.

Highlights

Middle interhemispheric variant of holoprosencephaly is an uncommon subtype of holoprosencephaly which is characterized by a midline connection of the two cerebral hemispheres in the posterior frontal and parietal regions with the separation of the anterior frontal and occipital lobes
Based on the characteristic imaging findings, the patient was diagnosed as having middle interhemispheric variant of holoprosencephaly (MIVH)
MIVH, termed as “syntelencephaly”, is an uncommon malformation which is characterized by the inadequate separation of the posterior frontal and parietal regions of the two cerebral hemispheres

Summary

Case presentation

A 42-year-old female presenting with a moderate headache of a few weeks was referred to the Department of Radiology for brain MRI. She had neither a neurological disorder nor a cognitive impairment. There was no family history of brain malformations, facial abnormalities, or chromosomal disorders She was a high school graduate and employed as a civil servant in a government office. On sagittal images; all portions of corpus callosum were present with prominently dysplastic genu, body, and rostrum, and a relatively well-formed splenic portion (Figure 3). Both lateral ventricles were of normal width. Treatment Except for symptomatic medication of headache, no treatment was planned

Discussion

Findings

Learning points