Middle Interhemispheric Variant of Holoprosencephaly Associated with Diffuse Polymicrogyria

• Published in: American journal of neuroradiology : AJNR Vol. 24; no. 3; pp. 394 - 397
• Main Authors: Takanashi, Jun-ichi, Barkovich, A. James, Clegg, Nancy J, Delgado, Mauricio R
• Format: Journal Article
• Language: English
• Published: Oak Brook, IL Am Soc Neuroradiology 01.03.2003; American Society of Neuroradiology
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - pathology; Biological and medical sciences; Brain Stem - abnormalities; Brain Stem - pathology; Cerebral Cortex - abnormalities; Cerebral Cortex - pathology; Cleft Palate - diagnosis; Diagnosis, Differential; Holoprosencephaly - diagnosis; Humans; Infant; Magnetic Resonance Imaging; Male; Malformations of the nervous system; Medical sciences; Neurologic Examination; Neurology; Pediatrics; Human; Arhinencephaly; Nervous system diseases; Clinical form; Male; Infant; Developmental disorder; Congenital disease; Nuclear magnetic resonance imaging; Cerebral disorder; Case study; Concomitant disease; Malformation; Central nervous system disease; Medical imagery; Diagnosis
• ISSN: 0195-6108; 1936-959X

An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem; this was a distinctly unusual association of findings. We hypothesize that an unknown genetic factor causes disturbances of cleavage of the prosencephalon as well as neuronal migration and organization.