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Cranial DysraphismAka: Cranial Neural Tube Defect, Cranial Bifidum, Cephalocele, Encephalocele, Anencephaly, Congenital Exophytic Scalp Nodule

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  1. 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
  2. Causes
    1. Idiopathic
    2. Meckel-Gruber Syndrome
      1. Autosomal recessive cause of occipital encephalocele
  3. 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
  4. 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
  5. Complications
    1. Cranial Meningocele carries good prognosis
    2. Encephalocele complications
      1. Hydrocephalus
      2. Vision disorders
      3. Microcephaly
      4. Mental retardation
      5. Seizure disorder
  6. 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

Anencephaly (C0002902)

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.
ConceptsCongenital Abnormality (T019)
ICD9740.0
EnglishABSENCE OF BRAIN CONGEN, Anencephalia, Anencephalias, Anencephalic monster, Anencephalus, Anencephaly, brain aplasia, Brain Congenital Absence, CONGEN ABSENCE OF BRAIN, Congenital Absence of Brain
Spanishanencéfalo, anencefalia, anencefalo, monstruo anencefálico, monstruo anencefalico
CreditsDerived from the NIH UMLS (Unified Medical Language System)


Congenital cerebral hernia (C0014065)

Definition (MSH)Cerebral 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.
ConceptsCongenital Abnormality (T019)
ICD9742.0
EnglishCephalocele, Cerebral Hernia, Cerebral Hernias, Congenital cerebral hernia, Congenitalcerebral hernia, Craniocele, Encephalocele, Encephaloceles
Spanishcefalocele, craneocele, encefalocele, hernia cerebral congénita, hernia cerebral congenita
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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