Malformaciones congnitas del SNC: Hidrocefalia, agenesia del cuerpo calloso.

Orellana Cullar, Jota Walter

DEFINICIN
Hidrocefalia congnita: Crecimiento progresivo ventricular por acmulo anormal de LCR, que aparece desde el primer da de vida, por consecuente con aparicin in utero.

J. Volpe. Neurology of the New Borne. 3a edicion, 31-35, 1994

Produccin de lquido cefalorraqudeo

El lquido cefalorraqudeo es producido por el plexo coroides. A travs de los agujeros de Magendie y de Luschka fluye hasta el cuarto ventrculo. Finalmente es absorbido en los cuerpos de Pacchioni y en las vellosidades aracnoideas. Velocidad de produccin en los adultos 0.33 ml/min = 475 ml en 24 h. Velocidad de produccin en los nios 0.35 ml/min = 504 ml en 24 h.
HJ Lpez. Hidrocefalia congnita asociada a Sndrome de Dandy-Walker. Rev Mex Ped; 67; 77-82; 2000.

Produccin de liquido cefalorraqudeo

El volumen total de LCR es aproximadamente unos 50 ml en el lactante, la mayor parte se encuentra fuera de los ventrculos.

El lquido una vez absorbido pasa hacia el seno sagital, y de all pasa a la sangre. Una vez en la sangre, es llevado y filtrado por los riones e hgado en la misma manera que cualquier otro fluido orgnico.

Nelson. Tratado de pediatra. Ed McGrawHill.16 Ed. P 1971, 2001

Causas de hidrocefalia congnita

Estenosis acueductal 33% Mielomeningocele (Arnodl Chiari) 28% Hidrocefalia comunicante 22% Malformacin Dandy Walker 7% Otros 10%

J. Volpe. Neurology of the New Borne. 3a edicion, 31-35, 1994

Cuadro clnico
Permetro ceflico aumentado. Separacin de suturas craneales. Somnolencia, rechazo progresivo a la va oral. Anormalidades oculares (atrofia ptica y estrabismo). Disfuncin del tronco enceflico (pobre succin, vmitos, broncoaspiracin). Muerte por herniacin transtentorial o transforaminal.

AGENESIA DEL CUERPO CALLOSO

AGENESIS OF CORPUS CALLOSUM

Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. The development of the fibers that would otherwise form the corpus callosum become longitudinally oriented within each hemisphere and form structures called Probst bundles. In addition to agenesis of the corpus callosum, other congenital callosal disorders include 1. hypogenesis (partial formation), 2. dysgenesis (malformation) of the corpus callosum, 3. hypoplasia (underdevelopment) of the corpus callosum. Diagnosis Callosal disorders can be diagnosed only through a brain scan They may be diagnosed through an MRI, CT scan, prenatal ultrasound, or prenatal MRI

AGENESIS OF CORPUS CALLOSUM

Cause
Agenesis of the corpus callosum is caused by disruption to development of the fetal brain between the 3rd and 12th weeks of pregnancy. In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include
chromosome errors, inherited genetic factors,

prenatal infections or injuries, prenatal toxic exposures,

structural blockage by cysts or other brain abnormalities metabolic disorders.

AGENESIS OF CORPUS CALLOSUM

Signs and symptoms
Vary greatly among individuals Some characteristics common in individuals with callosal disorders include
1. 2. 3. 4.
5. 6. 7.

Poor motor coordination, Delays in motor milestones such as sitting and walking, Delayed toilet training, Chewing and swallowing difficulties
Vision impairments, Hypotonia Low perception of pain, .

Research : shown to have some cognitive disabilities (difficulty in complex problem solving) and social difficulties (missing subtle social cues), even when their intelligence quotient is normal. Other characteristics sometimes associated with callosal disorders include seizures, spasticity, early feeding difficulties and/or gastric reflux, hearing impairments, abnormal head and facial features, and mental retardation.

AGENESIS OF CORPUS CALLOSUM

Associated syndromes
ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-chiari malformation, Dandy-walker syndrome, Andermann syndrome(motor and sensory neuropathy) Schizencephaly (clefts or deep divisions in brain tissue) Holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi's syndrome, which causes severe mental retardation, seizures(infantile spasms), abnormalities in the vertebra of the spine, and lesions(lacunae) on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities.