Re: Joubert Syndrome
Re: Joubert Syndrome
Posted by CCF Neurology MD on September 19, 1997 at 03:00:01:
In Reply to: Joubert Syndrome posted by Cathy on September 16, 1997 at 17:37:14:
: My two year old son has had several neurological problems since birth, with no diagnosis.
In March of 97 he had an MRI done. The Impression was, Moderate enlargement of Lateral Ventricles,
suggestion of reduced cerebral white matter. Cerebellar Malformation, with hypoplasia of the
interior cerebellar vermis and relative enlargement of the cerebellar hemispheres. It appears
to be an incomplete Joubert Syndrome. Please help me understand this????
My son is very smart. He does not talk or walk, but understands what we say.
Is it possible to have a mild case of Joubert Syndrome? If so, what does this say for his
furture? Any help or info will be greatly appreciated.
Thanks, Cathy
Dear Cathy: Joubert syndrome is an extremely rare disorder of infancy characterised by hypoplasia of the cerebellar vermis (usually noted on CT or MRI scans), congenital ataxia or incoordination, disturbance of respiratory rhythm (rapid "panting" breathing during sleep), eye abnormalities (squint with or without retinal degeneration, with or without congenital blindness), and slowed mental development, at times wit autistic features. Cysts in the kindey are frequently described; and there are some other inconstant associations. Most cases are believed to be recessively inherited, that is, another offspring may have a 25% chance of having the problem.
Joubert syndrome may be confused with isolated cerebellar vermis hypoplasia wich is more common, and has a milder picture, and also with the Dandy Walker syndrome, in which there is a cystic enlargement of the fourth ventricle behind the cerebellum, and also hydrocephalus. Some other very rare syndromes such as the CHARGE syndrome also come into the differential diagnosis. Besides the cognitive, visual, and motor deficits from Joubert's syndrome, the respiratory difficulty may be a major therapeutic concern.
Treatment is essentially supportive, with appropriate aids.
I hope I have succeeded in answering your question partially.
If you live near Cleveland you are welcome to get your son to examined by any of the pediatric neurologists at the Cleveland Clinic for a second opinion. Appointments can be made by calling (800)223-2273, or (216)444-5559 locally.
This information is provided for general medical education purposes only. Please consult your physician for diagnostic and treatment options of your specific medical condition.
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