Disease relevance of Encephalocele

• Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele [1].
• Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele [2].
• Spermidine concentrations were significantly increased in older children with myelomeningocele, encephalocele, and hydrocephalus [3].
• Increased GFAP concentrations were observed in amniotic fluid from some but not all pregnancies with fetal anencephaly or encephalocele, but not from pregnancies with fetal spina bifida or any of the other fetal malformations investigated [4].
• The spectrum of defects produced by arsenate in the hamster includes exencephaly, encephaloceles, skeletal defects, and malformations of the genito-urinary system [5].

High impact information on Encephalocele

• Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive [6].
• A few young died at or shortly after birth; in these, neurological changes ranging from gross defects such as encephaloceles and hydrocephalus to histological evidence of necrosis and congestion were observed [7].
• Orbital varices were associated with 3 types of cranial anomaly: major midline encephaloceles (type I anomaly; 4 cases), large superomedial defects of the orbital wall (type II; 3 cases), or defects of the greater wing of the sphenoid (type III; 3 cases) [8].
• Transalar encephalocele associated with Wegener granulomatosis and meningeal enhancement: case report [9].
• ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism [10].

Chemical compound and disease context of Encephalocele

• Both coronal sinus CT and MR imaging were useful to confirm the nasal encephalocele [11].
• The 677C-->T MTHFR mutation and elevated homocysteine levels appear to be disproportionately associated with defects spanning the cervical-lumbar spine, lumbosacral spine, and occipital encephalocele [12].
• Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure [13].
• Two encephaloceles had AFP levels less than 2.0 MOM and negative AChEs [14].
• Our aim was to determine whether survival among infants born with spina bifida and encephalocele has improved since folic acid fortification and to measure the effects of selected maternal, pregnancy, and birth characteristics on first-year (infant) survival rates [15].

Anatomical context of Encephalocele

• Optic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of syndromes, and are rarely associated with cardiac malformations and midline encephaloceles [16].
• The authors describe the association between an antero-basal temporal lobe encephalocele and medically intractable temporal lobe epilepsy in three patients treated successfully by surgery [17].
• The encephalocele demonstrated irregular peripheral enhancement along the margin--a very uncommon finding--as well as contrast enhancement of the basal meninges, which can be seen occasionally with Wegener granulomatosis [9].
• Treatment was also associated with gross and skeletal malformations, such as median facial cleft, exencephaly, encephalocele, fused ribs, and anomalous vertebrae and exoccipitals [18].
• A disturbance in the separation of the neural and surface ectoderm may be the pathogenetic basis of midline skull defects, and of the fronto-ethmoidal encephalocele in particular [19].

Gene context of Encephalocele

• Insights into the physiological function of collagen XVIII/endostatin have recently been obtained through the identification of inactivating mutations in the human collagen XVIII/endostatin gene (COL18A1) in patients with Knobloch syndrome, characterized by age-dependent vitreoretinal degeneration and occipital encephalocele [20].
• A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 [6].
• Nasal encephaloceles were always identified as complex masses of mixed soft tissue and CSF intensity that were contiguous with intracranial structures [21].
• The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly [22].
• Twelve cases from the literature add hydrocephalus, encephalocele, and arhinencephaly to a growing list of brain anomalies in GS [23].

Analytical, diagnostic and therapeutic context of Encephalocele

• Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound [24].

References