II. Definitions
- Cranial Dysraphism
- Incomplete raphe closure results in Cranial Bifidum
- Cranial Bifidum
- Bony midline cranial defect allowing Cephalocele
- Cephalocele
- Cranial Meningocele
- Encephalocele
- Herniation of brain through skull defect
- Anencephaly ("Absence of the head")
- Complete absence of brain in most cases
- Absence of calvarium covering brain
III. Causes
- Idiopathic
- Meckel-Gruber Syndrome
- Autosomal Recessive cause of occipital Encephalocele
IV. Signs
- Site
- Frontal, parietal or occipital swelling
- Midline or just lateral of midline
- Characteristics
- Soft, compressible Nodule
- Increases in size with infant crying or Valsalva
- Disrupts normal hair pattern
- Covered by normal, blue or translucent skin
- Findings highly correlated with Cephalocele
- Congenital Exophytic Scalp Nodule
- Nontraumatic scalp Nodule
- As many as 37% communicate with CNS
- Hypertrichosis (hair collar sign)
- Ring of denser, darker, coarser hair around Nodule
- Congenital Exophytic Scalp Nodule
- Associated dermatologic findings
- See Cutaneous Signs of Dysraphism
- Capillary malformation
- Hemangiomas
- Skin dimpled or sinus evident
V. Diagnosis
- Transillumination
- Identifies neural tissue within sac
- XRay for anatomic definition
- Cranial Ultrasound
- Identifies sac contents
VI. Complications
- Cranial Meningocele carries good prognosis
- Encephalocele complications
VII. References
- Behrman (2000) Nelson Pediatrics, Saunders, p. 1806
- Goetz (1999) Neurology, Saunders, p. 515-16
- Drolet (2000) Pediatr Clin North Am 47(4):813-23 [PubMed]
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| Definition (NCI) | A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. |
| Definition (MSH) | A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247) |
| Definition (CSP) | congenital malformation of the nervous system caused by failure of the anterior neuropore to close; infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level; the skull is only partially formed but the eyes are usually normal; affected infants are only capable of primitive reflexes and usually do not survive for more than two weeks; complete absence of the brain is rare. |
| Concepts | Congenital Abnormality (T019) |
| MSH | D000757 |
| ICD9 | 740.0 |
| ICD10 | Q00.0 |
| SnomedCT | 156887001, 156885009, 268306009, 203926007, 89369001 |
| LNC | LA20078-4 |
| English | Anencephalus, Anencephalus NOS, ANENCEPHALY, ABSENCE OF BRAIN CONGEN, CONGEN ABSENCE OF BRAIN, brain aplasia, anencephaly, agenesis of brain (diagnosis), anencephaly (diagnosis), agenesis of brain, Anencephaly, Anencephalia, Absence of Brain, Congenital, Brain Congenital Absence, Congenital Absence of Brain, Anencephalias, Anencephaly [Disease/Finding], anencephalia, Anencephalus et al NOS, Anencephaly (disorder), Anencephalus NOS (disorder), Agenesis of brain, Anencephalic monster, Congenital absence of brain, Anencephalus (disorder), anencephalus, brain; absent, brain; agenesis, brain; aplasia, absence; brain, agenesis; brain, aplasia; brain |
| French | ANENCEPHALIE, Anencéphale, Agénésie de l'encéphale, Absence congénitale de l'encéphale, Anencéphalie |
| Portuguese | ANENCEFALIA, Anencéfalo, Anencefalia |
| Spanish | ANENCEFALIA, Anencéfalo, anencéfalo, SAI (trastorno), anencéfalo, SAI, anencefalia, anencéfalo (trastorno), anencéfalo, monstruo anencefálico, Anencefalia |
| German | ANENZEPHALIE, Anencephalus, Anenzephalie, Anenzephalus |
| Dutch | anencephalus, afwezigheid; hersenen, agenesie; hersenen, aplasie; hersenen, hersenen; afwezig, hersenen; agenesie, hersenen; aplasie, anencefalie, Anencefalie |
| Swedish | Anencefali |
| Japanese | ﾑﾉｳｼｮｳ, 無脳症, 無脳児 |
| Czech | anencefalie, Anencefalus, Anencefalie, kongenitální absence mozku, vrozená absence mozku |
| Finnish | Aivottomuus |
| Italian | Assenza congenita del cervello, Anencefalo, Anencefalia |
| Russian | MOZGA GOLOVNOGO OTSUTSTVIE VROZHDENNOE, ANENTSEFALIIA, АНЭНЦЕФАЛИЯ, МОЗГА ГОЛОВНОГО ОТСУТСТВИЕ ВРОЖДЕННОЕ |
| Korean | 뇌없음증(무뇌증) |
| Croatian | ANENCEPHALIA, ANENCEFALIJA |
| Polish | Bezmózgowie |
| Hungarian | Agyvelő hiánya, Anencephalia, Anaencephalia |
| Norwegian | Anencefali, Anencefalus, Anencephalus, Medfødt mangel på hjerne |
Ontology: Congenital cerebral hernia (C0014065)
| Definition (MSH) | Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. |
| Definition (NCI) | A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. |
| Concepts | Congenital Abnormality (T019) |
| MSH | D004677 |
| ICD9 | 742.0 |
| ICD10 | Q01 , Q01.9 |
| SnomedCT | 204027009, 204019000, 156892004, 55999004, 48777005, 253101008 |
| English | Cerebral Hernia, Cerebral Hernias, Encephalocele, Encephaloceles, Hernia, Cerebral, Hernias, Cerebral, ENCEPHALOCELE, Encephalocele NOS, Encephalocele, unspecified, encephalocele (diagnosis), encephalocele, Encephalocele [Disease/Finding], Cranial Meningoencephalocele, Cranial Meningoencephaloceles, Meningoencephaloceles, Cranial, Meningoencephalocele, Cranial, Cranium Bifidum, Craniums, Bifid, Cranioceles, Cephalocele, Cranium, Bifid, Craniocele, Cranium Bifidums, Bifidum, Cranium, Bifidums, Cranium, Bifid Cranium, Bifid Craniums, Cephaloceles, craniocele, cephalocele, cerebral hernia, encephaloceles, Congenitalcerebral hernia, Encephalocele NOS (disorder), congenital malformation cerebral hernia, Congenital cerebral hernia (diagnosis), Cranium bifidum, Congenital cerebral hernia (disorder), Encephalocele (disorder), Congenital cerebral hernia, Encephalocele, NOS |
| French | ENCEPHALOCELE, Encéphalocèle, Hernie cérébrale |
| Spanish | ENCEFALOCELE, encefalocele, SAI, encefalocele, SAI (trastorno), cefalocele, craneocele, cráneo bífido, encefalocele (trastorno), encefalocele, hernia cerebral congénita (trastorno), hernia cerebral congénita, Encefalocele, Hernia Cerebral |
| German | ENZEPHALOZELE, Enzephalozele, nicht naeher bezeichnet, Enzephalozele, Hernia cerebri, Hirnprolaps, äußerer |
| Swedish | Hjärnbråck |
| Japanese | ﾉｳﾘｭｳ, 脳瘤, ヘルニア-脳, 脳ヘルニア |
| Czech | encefalokela, Encefalokéla, encefalokéla |
| Finnish | Enkefaloseele |
| Italian | Ernia cerebrale, Encefalocele |
| Russian | ENTSEFALOTSELE, GRYZHA MOZGOVAIA, ГРЫЖА МОЗГОВАЯ, ЭНЦЕФАЛОЦЕЛЕ |
| Portuguese | ENCEFALOCELO, Encefalocelo, Encefalocele, Hérnia Cerebral |
| Korean | 상세불명의 뇌류, 뇌류 |
| Croatian | MOŽDANA KILA, HERNIJA MOZGA, ENCEFALOKELA |
| Polish | Przepuklina mózgowa |
| Hungarian | Encephalocele |
| Norwegian | Encefalocele, Hjernebrokk, Meningoencefalocele, Cefalocele, Kraniocele, Craniocele |
| Dutch | Encefalokle, niet gespecificeerdi, encefalokèle, Encefaloklei, Encefalocele, Hernia, cerebrale, Encefalokèle |
