Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review

Abstract

Frontoethmoidal encephalomeningocoele is a rare congenital disease in which an intracranial mass protrudes through a midline defect from the anterior cranial fossa into the facial skeleton. The condition affects patients in South East Asian countries, such as Thailand, Burma, Malaysia and Indonesia, with frequency of 1 in 5000. The pathogenesis of encephalocoeles may be regarded as a 'late' neurulation defect during the fourth gestational week. We present a case of frontoethmoidal encephalomeningocoele with corpus callosal agenesis and colpocephaly; this may well be the first report of this combination. The patient had a bulging mass in the middle frontonasal area, with broadening of the nasal bridge and hypertelorism. Computed tomography scans delineated the skull defect and associated brain anomalies. A one-stage, combined transfacial-transcranial approach, correctional procedure was performed. We present here a discussion of the findings, with special reference to the condition's pathogenesis, morphological classification and evolving surgical treatments. Early diagnosis and referral, involving multidisciplinary teamwork, are of paramount importance because of the distorting influence of the extruding mass on facial growth.

Endoscopic Endonasal versus Open Repair of Anterior Skull Base CSF Leak, Meningocele, and Encephalocele: A Systematic Review of Outcomes

“…Regarding study design, 17 papers were retrospective [1][2][3]6,12,[15][16][17][18][19][20][21][22][23][24][25][26] and there were 11 case reports. [27][28][29][30][31][32][33][34][35][36][37] Characteristics and primary findings of the 42 studies involving endoscopic endonasal repair are summarized in ►Table 2. Regarding study design, 35 papers were retrospective, 2,3,6,22,26, two were prospective, 4,13 and there were five case reports.…”

Genetics and genomic medicine in Indonesia

“…Fronto‐ethmoidal encephalomeningocele, is a rare type of NTD, occur about 1 per 5.000 population in Asian countries, including Indonesia (Bhattacharjee et al. ).…”

“…Respectively, predicted NTD rates were highest at Beijing (30 per 10,000 life birth), followed by Kuala Lumpur (24 per 10,000 life birth), and lowest in jakarta (15 per 10,000 life birth) (Green et al 2007). Fronto-ethmoidal encephalomeningocele, is a rare type of NTD, occur about 1 per 5.000 population in Asian countries, including Indonesia (Bhattacharjee et al 2008).…”