Interhypothalamic Adhesion in a 9-Month-Old Male with Cleft Palate

A 9-month-old male infant with multiple congenital anomalies including cleft lip and palate was referred to us for a brain MR to exclude additional intracranial abnormalities. Imaging revealed an interhypothalamic adhesion, which we present as a possible forme fruste of holoprosencephaly. 1. Introduction Holoprosencephaly (HPE) represents a spectrum of disorders in which the prosencephalon, to varying degrees, fails to cleave into bilateral structures during embryologic development [1–4]. Though considered a disorder of telencephalic cleavage, it can also involve the diencephalon, which forms the thalamus and epithalamus [4]. The hypothalamus, now considered a derivative of the secondary prosencephalon, has been shown to be universally unionized in holoprosencephaly even in the mildest of forms [5]. HPE has been divided into three main types along its spectrum, in decreasing severity, as alobar, semilobar, and lobar. Other variants include syntelencephaly, solitary median maxillary central incisor syndrome, and congenital nasal pyriform aperture stenosis [1]. With the exception of syntelencephaly, the mildest forms of holoprosencephaly show only partial forebrain and diencephalic union. We present a case of a 9-month-old male status after cleft palate repair, referred to us to evaluate additional intracranial congenital anomalies. Brain MR revealed an interhypothalamic adhesion in addition to falx cerebri hypoplasia, hip- pocampal malrotation, and equivocal optic tract hypoplasia. 2. Case A 9-month-old male infant with multiple congenital anomalies, including a history of repaired unilateral complete cleft palate and lip, released club foot, and bilateral undescended testes, presented to our imaging service to exclude additional intracranial congenital abnormalities. The patient had previously undergone an extensive diagnostic workup that revealed a normal male genetic karyotype. As of this case writeup, the workup had not rendered a specific unifying diagnosis. A brain MRI was requested to search for congenital intracranial structural midline abnormalities. The examination was performed on a 1.5T MR (Signa HDxt Optima edition, General Electric, Milwaukee, WI, USA). Prescribed pulse sequences included sagittal T1WI fast spoiled gradient echo Brain Volume imaging (FSPGR BRAVO), axial T1 fluid attenuation inversion recovery (FLAIR), axial T2WI, axial T2 fluid attenuation inversion recovery (FLAIR), and coronal short tau inversion recovery (STIR). In addition, thin section coronal and axial T1WI FSPGR and coronal fast imaging employing steady-state