First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism.

Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.

Simple Tumor Localization Scale for Estimating Management Outcome of Intracranial Meningioma.

OBJECTIVE: Intracranial meningiomas are typically benign extracerebral tumors derived from dural arachnoid cells. Predominantly, these tumors are effectively managed surgically, but the prognosis is heavily dependent on a tumor's histologic heterogeneity and its location. It is known that reproductive and hormonal factors increase the risk for meningioma in adult females, but their prognostic value still remains controversial. This study's aim was to examine possible correlation between tumor location and outcome, as well as to evaluate the prognostic value of the proposed simple tumor localization scale in predicting the management outcome of intracranial meningioma. METHODS: In a retrospective, cross-section survey, a single-institution cohort of 243 patients operated on due to intracranial meningioma was analyzed. The investigated parameters were age and gender, tumor location, and extent of surgery (Simpson grading). The patients were divided into 2 groups allocating tumors to central and peripheral position within the cranial vault. The outcome was estimated by Karnofsky Performance Score (KPS) at discharge from hospital and Glasgow Outcome Scale at 1 year after surgery. RESULTS: A statistically significant correlation between tumor location and outcome, as well as negative correlation between age and outcome, were observed (P < 0.001). CONCLUSIONS: When estimating the management outcome of intracranial meningiomas, we propose a simple localization scale dividing the tumors into central and peripheral positions. Central tumor location might be prognostically unfavorable due to involvement of major neurovascular structures. Among the independent factors predicting favorable tumor response to surgery, more effective outcomes associated with peripheral tumor location and younger age were observed.