Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
Novel Neurodevelopmental Disorder In The Case of A Giant Occipitoparietal Meningoencephalocele Case Report
Abstrak
Giant occipitoparietal encephaloceles neurodevelopmental defects unique constellation of malformations associated with the case of a giant occipitoparietal meningoencephalocele with herniation of cortical tissue and continuity with the ventricular system 2p11.2 RMND5A (LisH) domain encephalocele formation
Introduction
Cephaloceles are herniations of intracranial contents through the skull and are defined by the type of tissue in the defect. Meningoceles contain both CSF and meninges, encephalocele is reserved for the presence of cortical CNS tissue within the defect. association between encephaloceles and various genetic syndromes
posterior horn of the left lateralventricle (v) and the meningo encephalocele (e).
abnormal cranial venous system The absence of the straight sinus is notable
Operation Day 12nd resection of the coarctation with end-to-end anastomosis, pulmonary artery banding, ligation PDA 2 months of age repair of the left parietooccipital encephalocele
Postoperative Course Two weeks later placement of a ventriculoperitoneal shunt 6-month follow-up CT
Postoperative Course
Intraoperative successful repair of the encephalocele
Genetic Sudies RMND5A C-terminal to LisH motif Miller-Dieker lissencephaly, TreacherCollins syndrome, and oral-facial-digital Type 1 syndromes Association between encephaloceles and systemic malformations
Etiology of Encephaloceles
Controversial
Failure of neural tube closure Common mesenchymal stem cell that rests between the neural tube and superficial ectoderm on Day 9 of fetal life
Timing and location of encephalocele formation during neurodevelopment may elucidate the mechanisms responsible for their formation.
Etiology of Encephaloceles
TABLE 2: Intracranial and cerebrovascular anomalies associated with encephaloceles
Treatment Options and Outcomes Correction autologous bone grafts, hydroxyapatite crystals, and other surgical techniques Hydrocephalus Cerebrospinal fluid diversion VP shunt Etiology outcomes
with patients with WWS rarely surviving past 1 year of age
Conclusions
Giant encephaloceles are rare forms of
neurodevelopmental defects
elucidation
RMND5A a LisH domain Novel constellation of syndromic findings associated with the giant encephalocele, including a cleft lip and palate, hemivertebrae of the thoracic spine, a PDA, a VSD, and coarctation of the aorta Help to further identify potential genes