Bilateral Macrostomia Associated with Aqueductal Stenosis and Glial Heterotopias

• Published in: The Cleft palate-craniofacial journal Vol. 44; no. 5; pp. 558 - 561
• Main Authors: Pepe, Ernesto, Petricig, Paola, Peretta, Paola, Cinalli, Giuseppe
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01.09.2007; American Cleft Palate-Craniofacial Association; SAGE PUBLICATIONS, INC
• Subjects: Biological and medical sciences; Brain Diseases - diagnostic imaging; Cerebral Aqueduct - abnormalities; Cerebral Aqueduct - diagnostic imaging; Cerebral Ventricles - abnormalities; Cerebral Ventricles - diagnostic imaging; Cerebrospinal fluid. Meninges. Spinal cord; Choristoma - diagnostic imaging; Congenital diseases; Constriction, Pathologic - complications; Deformities; Dentistry; Female; Humans; Hydrocephalus - complications; Infant, Newborn; Macrostomia - complications; Macrostomia - surgery; Male; Malformations of the nervous system; Maxillofacial surgery; Medical sciences; Nervous system (semeiology, syndromes); Neuroglia; Neurology; Otorhinolaryngology. Stomatology; Pregnancy; Ultrasonography, Prenatal; macrostomia; hydrocephalus; aqueductal stenosis; brain malformation; glial heterotopias; vermilion flap; Nervous system diseases; Stomatology; Heterotopic; Stenosis; Bilateral; Congenital disease; Cerebral disorder; Brain malformation; Association; Treatment; Surgery; Central nervous system disease; Hydrocephaly; Flap (surgery)
• ISSN: 1055-6656; 1545-1569
• DOI: 10.1597/06-096.1

We report on an Italian boy, born to normal and nonconsanguineous parents with a prenatal diagnosis of ventriculomegaly and subependymal glial heterotopias. At birth bilateral macrostomia was diagnosed without other evident facial anomalies. Magnetic resonance imaging (MRI) showed triventricular hydrocephalus and aqueductal stenosis and confirmed the nodules of glial heterotopia. The bilateral macrostomia was surgically corrected with the vermilion square flap method and W-plasty technique and follow up MRI at 6 months showed mild increase of ventricular dilatation without signs of active hydrocephalus. The association between macrostomia and hydrocephalus has been reported only in rare cases of complex malformative syndromes but never with isolated macrostomia.