canavan disease pathophysiology_cleo agustin

8/7/2019 Canavan Disease pathophysiology_Cleo Agustin

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Predisposing Factors:

Family History: Both parents-25%

Race: Eastern European Group

Jewish (most common-40:1)

Saudi Arabian People

Age: birth-10 yrs oldAutoimmune Diseases

Pathophysiology of

Spongy Degeneration of the Brain

Precipitating Factors:

Pregnancy: Alcoholic mother

Smoking (nicotine)

Substance abuse

Occupation of the mother

Substance abuse: heroine

Trauma and tumor

Etiology: Unknown

Increase permeability of cerebral capillaries during pregnancyDamage at endothelial cells of the brain

Toxic Metabolic Neural Activity

Toxic chemicals interfere with Blood Brain Barrier DevelopmentHarmful substance enter the BBB

Inhibit hydrolysis of substrate

N-accetyl aspartate

Genetic Mutation

Aspartoacylase Deficiency

Ammonia not converted to glutamine

Harmful substances can enter

brain easily (alcohol, nicotine,

heroine)

Alter brain concentration of

proteins, H2O, electrolytes

Damaged

CNS

Ammonia diffuse to CSF



Large number of vacuoles in white

Impaired myelin

sheat formation

Impaired OligodendritesAccumulation of NAA in

astrocytes

Impaired brain communicating network

White matter deterioration

Dissociation

Spongy appearance

Absence of fast conducting myelinated

fibers

Somatic Nervous

system affectation

Blockage at astrocytes projection

Impaired connection of cortex to

lower portion of brain and spinal

Progressive weakening of skeletal

and voluntar muscles

Inhibit function of the fiber bundles

Affects anterior and lateral

s inothalamic tract



Poor muscle

tone

Lack of head control

when baby is pulled

from lying to sitting

position

Interferes normal

visual acuity

Muscular

dissociations

Poor visual

Flexed arms

Blindness

Strai ht le s

Abnormal posture

Decrease nutrient

supply

Rapidly increasing

head circumference

Swollen astrocytes

Lack of living

barrier between

capillaries and

neurons

Excess Ions Decrease release of

neurotransmitter

Dysrythmia of nerve cellsCranial nerve IX, X, XI,

XIIaffectations

Altered nerve

functionsInhibit production of serotonin,

dopamine and nor epinephrine

Compression of brain

structures

UncontrolledAbnormalRecurring

Electrical charges

Mental

retardation



Narrowing of esophagus

Excessive neural discharge

Feeling of chockingAbnormal sensation of

Feeding problems

Seizures

Feeling of coughing

Swallowing difficulties Stimulates normal physiologic, protective mechanism

Backflow of food material

Vomiting center (Medulla)

During swallowing

Closing AirwaysDeep breathIncreased contraction of

the dia hra m

Mouth (reflux with vomiting)Nose

canavan disease pathophysiology_cleo agustin

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