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Basal Encephalocele

Cephalocele


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]
  • Abstract Basal encephalocele should be suspected in child when hypertelorism, defect of the bridge of the nose, and other midfacial anomalies are present. Optic nerve anomalies may occur with basal encephalocele.[ncbi.nlm.nih.gov]
  • A 24-year-old man presented with a history of recurrent meningitis secondary to cerebrospinal fluid (CSF) rhinorrhea. The patient had bilateral optic disc dysplasia in association with a basal encephalocele, but had no midline facial anomalies.[ncbi.nlm.nih.gov]
  • We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype.[ncbi.nlm.nih.gov]
  • A 22-year-old woman presented with a basal encephalocele associated with hypoplasia of the internal carotid artery (ICA) manifesting as a 6-year history of decreased vision in the right eye.[ncbi.nlm.nih.gov]
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]
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]
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]
Foot Deformity
  • Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; club feet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate[ncbi.nlm.nih.gov]
Lordosis
  • SCT syndrome is characterized by disproportionate short stature, block vertebrae, scoliosis and lordosis, carpal and tarsal fusion, club feet, hearing loss, dental enamel hypoplasia, and mild facial dysmorphisms.[ncbi.nlm.nih.gov]
Spastic Quadriplegia
  • Pseudoprogeria syndrome MedGen UID: 163218 • Concept ID: C0796125 • Disease or Syndrome Syndrome with characteristics of intellectual deficit associated with progressive spastic quadriplegia, microcephaly, and glaucoma, absence of the eyebrows and eyelashes[ncbi.nlm.nih.gov]

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]
  • CASE REPORT: We describe a case of bilateral MGS associated with basal encephalocele that was detected by chance when treatment was sought for respiratory distress.[ncbi.nlm.nih.gov]
  • This approach will enable the practitioner to make the most accurate diagnosis and choose the most effective treatment option.[books.google.com]
  • In the third patient, TSH response to TRH went from subnormal to normal after treatment with growth hormone and thyroxine. No patient had evidence of ACTH deficiency.[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]

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 overall prognosis is variable dependent on severity and other associations (presence of hydrocephalus, microcephaly, etc).[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]
  • 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]
  • Up to now etiology remains unknown, although we conjecture that it is due to a mutation in TGIF gene.[medsci.org]

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]
Sex distribution
Age distribution

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]
  • Another theory points to failure of the neuro-ectoderm to separate from the surface of the ectoderm during formation of the neural tube, thus preventing the mesodermal tissue from interposing between these two germ layers causing alteration in the skull[surgicalneurologyint.com]

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