Presentation
CONCLUSIONS: MGS and basal encephalocele should always be suspected in cases of midline deficiencies, particularly when ophthalmic signs of strabismus or poor vision are present. [ncbi.nlm.nih.gov]
With a mean age of presentation ranging between 15.5 and 21 months; 3 an encephalocele presenting for the first time in a relatively older individual is a very rare occurrence. [jpma.org.pk]
Two cases of basal encephaloceles are presented (one trans- sphenoidal and one sphenoethmoidal), along with a review of the literature. The relationship between the basal encephaloceles and endocrinological abnormalities is also emphasized. [utsouthwestern.influuent.utsystem.edu]
Entire Body System
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Euthyroid
Two patients were euthyroid, but in response to thyrotropin-releasing hormone (TRH) injection, one patient's thyrotropin (TSH) level increased to levels exceeding normal while the other's did not attain normal levels. [ncbi.nlm.nih.gov]
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Poikilothermia
He was found to have marked hypothalamic-pituitary dysfunction including deficiencies of growth hormone, thyrotropin, adrenocorticotropic hormone and gonadotropins, diabetes insipidus, adipsia with essential hypernatremia and poikilothermia. [ncbi.nlm.nih.gov]
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Hunting
Hughes, GB, Sharpino, G, Hunt, W, Tucker, HM. "Management of the congenital midline nasal mass: a review". Head and Heck Surg. vol. 2. 1980. pp. 222-33. [dermatologyadvisor.com]
Respiratoric
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Nasal Discharge
He visited a hospital for chief complaints of persistent nasal discharge and fever, and was diagnosed with meningitis and admitted. Because his meningitis repeated, he was transferred to our hospital. [jmedicalcasereports.biomedcentral.com]
Jaw & Teeth
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Macrostomia
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: Defining the phenotype. Clin Dysmorphol. 2001 ; 10 :81 -86 8. [medsci.org]
Eyes
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Retinal Pigmentation
The coloboma is surrounded by a lifted ring of retinal pigmentation, which resembles the morning glory flower. [scielo.br]
Skin
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Subcutaneous Nodule
Mention should be made of the small, often noncystic subcutaneous nodules that similar to cephaloceles contain meninges with or without brain tissue but lack open communication with the cranial cavity. [medlink.com]
Workup
Myssiorek and Cohen [ 8 ] also emphasized that the diagnostic workup of ISE should comprise sinus radiographic studies, computed tomography scan with contrast and finally excisional biopsy to confirm the diagnosis. [intjem.springeropen.com]
Imaging workup by CT scan tomography and 3 dimensional CT scan and also MRI allows precise study of meningo-encephaloceles, and associated malformations. Pathogenesis, classification and terminology remain a matter of debate. [panafrican-med-journal.com]
Treatment
With regard to the treatment of basal encephaloceles there still exists a lot of controversion, but most authors agree that it is better to postpone operation until after the age of three because mortality is lower then. [ncbi.nlm.nih.gov]
[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.com]
Article Access Statistics Viewed 5742 Printed 173 Emailed 0 PDF Downloaded 104 Comments 2 Modern diagnosis and treatment in children with congenital basal encephalocele A. V. Sakharov,V. V. Roginskiy,D. N. Kapitanov,A. L. Ivanov,E. V. Shelesko,S. K. [neurologyindia.com]
Prognosis
Extracranial defects should be looked for carefully since they may indicate the presence of a specific syndrome with its own prognosis and mode of inheritance. [ncbi.nlm.nih.gov]
Treatment and prognosis The prognosis is variable depending on the presence of associated anomalies and presence of microcephaly (carries a much poorer prognosis). [radiopaedia.org]
The prognosis is variable depending on the presence of associated anomalies and presence of microcephaly (carries a much poorer prognosis). [ijrcog.org]
Etiology
In this book, each chapter is richly illustrated and dedicated to one disease with subheadings that encompass etiology, molecular biology, clinical anatomy, symptoms, rationale for surgical procedures, natural history and transition into adulthood. [books.google.com]
[…] of Craniofacial Surgery. 2015; 26(8): e793 6 A rare cause of short stature: transsphenoidal encephalocele Özhan Bayram,Agladioglu Yilmaz Sebahat,Agladioglu Kadir,Koçyigit Ali European Journal of Pediatrics. 2013; 7 Nasal encephaloceles: A review of etiology [neurologyindia.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Up to now etiology remains unknown, although we conjecture that it is due to a mutation in TGIF gene. [medsci.org]
Intrasphenoidal encephaloceles (extending into but not through the sphenoid sinus) and true transphenoidal encephaloceles have different morphological and clinical features as well as different etiologies [ 3, 6 ]. [intjem.springeropen.com]
Epidemiology
Epidemiology In developed countries, this malformation is rare but in developing countries, this pathology remains important. [operativeneurosurgery.com]
Epidemiology Congenital midline nasal masses are rare, occurring in 1:20,000 to 1:40,000 live births. Of these rare lesions, the encephalocele, glioma, and dermoid are the most common. [dermatologyadvisor.com]
Salonen R et al. (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. [ ] 37. Majewski F et al. (1983) Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome? [ ] 38. [moldiag.com]
Encephalocoele-epidemiological variance in New Zealand. J Clin Neurosci. 2005 Jun;12(5):557-8. PubMed Google Scholar Mahaptra AK. Anterior encephaloceles-AIIMS experiences a series of 133 patients. J Pediatr Neurosci. 2011; 6 (1): S27-S30. [panafrican-med-journal.com]
Pathophysiology
Craniofacial Surgery. 2015; 26(8): e793 6 A rare cause of short stature: transsphenoidal encephalocele Özhan Bayram,Agladioglu Yilmaz Sebahat,Agladioglu Kadir,Koçyigit Ali European Journal of Pediatrics. 2013; 7 Nasal encephaloceles: A review of etiology, pathophysiology [neurologyindia.com]
Pathophysiology The key underlying event in the development of meningoceles, encephaloceles, and gliomas is faulty closure of the anterior neuropore. [dermatologyadvisor.com]
Prevention
Oropharyngeal packing prevents trickling of blood and secretions into the trachea and esophagus and also prevents dislodgement of the ETT. [saudija.org]
The study identified key areas for prevention. [operativeneurosurgery.com]
"She will probably have another brain surgery," Ackerman said, explaining that the tissue will never go back but additional surgeries will prevent further seepage and infection. She said 10 to 12 children are born with this type of defect each year. [dailyherald.com]
These details were important for surgical planning, preventing complications, and technical challenges. [ncbi.nlm.nih.gov]
However it is important to optimize visual acuity to prevent amblyopia. [2] Dilated fundus exams should be done to detect serous retinal detachments that tend to originate in the peripapillary area and extends to the posterior pole. [3] Brain imaging [eyewiki.aao.org]