Larissa Gabor1, Huseyin Canaz1, Gokhan Canaz2, Nursu Kara3, Elif Yilmaz Gulec4, Ibrahim Alatas1. 1. Department of Neurosurgery, Istanbul Bilim University, Sisli Florence Nightingale Hospital, Istanbul, Turkey. 2. Department of Neurosurgery, Bakirkoy Research and Training Hospital for Neurology, Neurosurgery and Psychiatry, 34147, Bakırkoy, Istanbul, Turkey. gokhancanaz@gmail.com. 3. Department of Neonatology, Istanbul Bilim University, Sisli Florence Nightingale Hospital, Istanbul, Turkey. 4. Department of Medical Genetics, Kanuni Sultan Suleyman Training and Reseach Hospital, Istanbul, Turkey.
Abstract
PURPOSE: Foramina parietalia permagna is a variable intramembranous ossification defect of the parietal bones. Foramina parietalia permagna have an autosomal dominant inheritance, and it is showed that mutations in chromosome 5 and 11 are causing this anomaly. Enlarged parietal foramina occurs extremely rare. They are usually asymptomatic, but occasional headache, vomiting, pain over unprotected cerebral cortex, and seizures may be experienced by the patients. In the literature, some associated congenital bony defects, soft tissue pathologies, underlying neuronal deficits, and vascular variations have been described. METHODS: We report two cases of foramina parietal permagna with their pedigrees and genetic analysis. RESULTS: In case 1, cytogenetic analysis revealed a mutation of the ALX4 gene and all of the members of the family diagnosed with FPP. MRI revealed inferior vermian cerebellar hypoplasia. Surgery was not considered. In case 2, cytogenetic analysis could not be obtained because of financial reasons. Cranial MRI revealed hypoplastic right transverse sinus and sigmoid sinus, with a persistent parafalcine sinus. Surgery was not considered. CONCLUSION: Despite of its rarity, genetic background and some important associated anomalies make foramina parietalia permagna more than an uncommon insignificant genetic disorder.
PURPOSE:Foramina parietalia permagna is a variable intramembranous ossification defect of the parietal bones. Foramina parietalia permagna have an autosomal dominant inheritance, and it is showed that mutations in chromosome 5 and 11 are causing this anomaly. Enlarged parietal foramina occurs extremely rare. They are usually asymptomatic, but occasional headache, vomiting, pain over unprotected cerebral cortex, and seizures may be experienced by the patients. In the literature, some associated congenital bony defects, soft tissue pathologies, underlying neuronal deficits, and vascular variations have been described. METHODS: We report two cases of foramina parietal permagna with their pedigrees and genetic analysis. RESULTS: In case 1, cytogenetic analysis revealed a mutation of the ALX4 gene and all of the members of the family diagnosed with FPP. MRI revealed inferior vermian cerebellar hypoplasia. Surgery was not considered. In case 2, cytogenetic analysis could not be obtained because of financial reasons. Cranial MRI revealed hypoplastic right transverse sinus and sigmoid sinus, with a persistent parafalcine sinus. Surgery was not considered. CONCLUSION: Despite of its rarity, genetic background and some important associated anomalies make foramina parietalia permagna more than an uncommon insignificant genetic disorder.
Authors: Leopoldo Mandic Ferreira Furtado; José Aloysio Da Costa Val Filho; José Antônio Lima Vieira; Aieska Kellen Dantas Dos Santos Journal: Cureus Date: 2021-05-31