PatriciaLim
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A 6 month old girl is seen by her pediatrician for a well baby check up. The mother states that in the past several weeks the child seems to be lethargic, limp, and has trouble controlling her head. Development had been normal up to this point. The physician notes hypotonia and delayed achivement of motor skills. A metabolic disorder is suspected and testing reveals an increased amount of N acetylaspartic acid (NAA) in the urine. What is the most probable diagnosis for this child?
A Canavan disease
B Gaucher disease
C Krabbe disease
D Tay Sachs disease
E X linked adrenoleukodystrophy
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| drpkaur
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It's A...Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
Canavan disease (CD) belongs to a group of conditions known as leukodystrophies, which result from defects in myelin. Myelin, a substance made up of proteins and lipids, is an integral component of the nervous system. It is commonly known as the "white matter" in the brain; its function is to protect nerves and allow messages to be sent to and from the brain. In Canavan disease, the white matter deteriorates because patients have a deficiency in the enzyme aspartoacylase, which leads to the accumulation of another chemical, called N-acetyl-aspartic acid (NAA). It is not known exactly how these chemical imbalances cause the destruction of myelin.
Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for those with CD is poor. Death often occurs before age 4, although some children may survive into their teens and twenties.
Symptoms of Canavan disease appear in early infancy and progress rapidly, but generally include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness.
Affected children may also have mental retardation, feeding difficulties and loss of previously acquired motor skills. Paralysis, blindness, or hearing loss may also occur. Children with CD are characteristically quiet and apathetic.
As the child grows, motor skills and mental functioning deteriorate, although many affected children continue to recognize and respond to the voices of their primary caregivers.
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| drpkaur
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Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians.
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| PatriciaLim
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Topics: 13
Posts: 54
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