II. Definitions

  1. Cranial Dysraphism
    1. Incomplete raphe closure results in Cranial Bifidum
  2. Cranial Bifidum
    1. Bony midline cranial defect allowing Cephalocele
  3. Cephalocele
    1. Congenital Herniation of intracranial contents
    2. Meninges or brain protrudes via a scalp defect
  4. Cranial Meningocele
    1. Herniation of Meninges and cerebrospinal fluid
  5. Encephalocele
    1. Herniation of brain through skull defect
  6. Anencephaly ("Absence of the head")
    1. Complete absence of brain in most cases
    2. Absence of calvarium covering brain

III. Causes

  1. Idiopathic
  2. Meckel-Gruber Syndrome
    1. Autosomal Recessive cause of occipital Encephalocele

IV. Signs

  1. Site
    1. Frontal, parietal or occipital swelling
    2. Midline or just lateral of midline
  2. Characteristics
    1. Soft, compressible Nodule
    2. Increases in size with infant crying or Valsalva
    3. Disrupts normal hair pattern
    4. Covered by normal, blue or translucent skin
  3. Findings highly correlated with Cephalocele
    1. Congenital Exophytic Scalp Nodule
      1. Nontraumatic scalp Nodule
      2. As many as 37% communicate with CNS
    2. Hypertrichosis (hair collar sign)
      1. Ring of denser, darker, coarser hair around Nodule
  4. Associated dermatologic findings
    1. See Cutaneous Signs of Dysraphism
    2. Capillary malformation
    3. Hemangiomas
    4. Skin dimpled or sinus evident

V. Diagnosis

  1. Transillumination
    1. Identifies neural tissue within sac
  2. XRay for anatomic definition
    1. Skull XRay
    2. Cervical Spine XRay
  3. Cranial Ultrasound
    1. Identifies sac contents

VI. Complications

  1. Cranial Meningocele carries good prognosis
  2. Encephalocele complications
    1. Hydrocephalus
    2. Vision disorders
    3. Microcephaly
    4. Mental Retardation
    5. Seizure disorder

VII. References

  1. Behrman (2000) Nelson Pediatrics, Saunders, p. 1806
  2. Goetz (1999) Neurology, Saunders, p. 515-16
  3. Drolet (2000) Pediatr Clin North Am 47(4):813-23 [PubMed]

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Ontology: Anencephaly (C0002902)

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