Novel Neurodevelopmental Disorder In The Case of A Giant Occipitoparietal

Meningoencephalocele Case Report

Nama: Imas Ayu Arjianti Putri092011101018

Journal Reading

Abstrak

Giant occipitoparietal encephaloceles neurodevelopmental defectsunique constellation of malformations associated with the case of a giant occipitoparietal meningoencephalocele with herniation of cortical tissue and continuity with the ventricular system2p11.2 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

History and Examination

♂; 33 wks’ gestation by cesarean section to a G5P1 mother with 3 previous spontaneous abortionsPrenatal ultrasonographic occipitoparietal encephalocele, VSD, and cleft lip and palateApgar scores of 3, 5, and 8 apnea intubatedLarge occipitoparietal encephalocele = 6 × 5 × 4 cmOverriding sagittal sutures, and he had a cleft lip, and palate. Small, downward-slanting left globe and lateral canthusDiffuse hypertonia and sustained ankle clonusright hemivertebra at T-2 and a left hemivertebra at T-1.PDA, moderate hydrocephalus,

History and Examination

continuity of the large herniation with the ventricular system

posterior horn of the left lateralventricle (v) and the meningoencephalocele (e).

abnormal cranial venous systemThe absence of the straight sinus is notable

Operation

Day 12nd resection of the coarctation with end-to-end anastomosis, pulmonary artery banding, ligation PDA2 months of age repair of the left parietooccipital encephalocele

Postoperative Course

Two weeks later placement of a ventriculoperitoneal shunt6-month follow-up CT

Postoperative Course

successful repairof the encephalocele

Intraoperative

adequate cranial vault contour

chromosome 2p11.2RMND5A and CD8A

Genetic Sudies

RMND5A C-terminal to LisH motif Miller-Dieker lissencephaly, Treacher-Collins syndrome, and oral-facial-digital Type 1 syndromesAssociation between encephaloceles and systemic malformations

Etiology of Encephaloceles

ControversialFailure of neural tube closureCommon 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 techniquesHydrocephalus Cerebrospinal fluid diversion VP shuntEtiology 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 domainNovel 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 aortaHelp to further identify potential genes