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tutaibabu

Total Posts: 11



Posted: Fri Feb 01, 2008 03:33 am

Both Alexander disease and Cannavan's disease are characterized by progressive macrocephaly.

Alexander disease
It is a rare sporadic disease.
There is mutation in glial fibrillary acidic protein.
There is loss of white matter, mostly in frontal lobe
Progressive macrocephaly by 1st year.
Death usually occurs by 5 years.

Cannavan's disease
It is an autosomal recessive disorder.
There is deficiency of aspartocylase leading to accumulation of N-acetyl aspartic acid.
There is spongy degeneration of white matter leading to leukodystrophy.
There is cerebral atrophy and enlargement of ventricles and so progressive macrocephaly.
RABIES

Total Posts: 42



Posted: Sat Feb 09, 2008 09:46 pm

What is Alexander Disease?

Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. Alexander disease is a progressive and usually fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are rare, but have been reported. The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution

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superbdoc

Total Posts: 273



Posted: Sat Oct 11, 2008 02:55 am

Leukodystrophies are characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron. The gene associated with the disorder is located on human chromosome 17.

Alexander's disease

Juvenile forms start in school-aged children and associate spastic paraplegia and progressive bulbar signs. Adult forms are heterogeneous and difficult to diagnose and symptoms may also resemble multiple sclerosis.
superbdoc

Total Posts: 273



Posted: Tue Oct 14, 2008 01:31 am

Plzz tell me abt Krabbe's disease in a nutshell.. Confused
juhidr

Total Posts: 149



Posted: Tue Oct 14, 2008 05:26 am

Krabbe's Disease

- autosomal recessive
- due to defect in gene at chromosome 14q31.3
- males and females are affected equally
- sphingolipidosis
- caused by deficiency of the lysosomal hydrolase galactosylceramide beta-galactosidase
- which degrades galactosylceramide(a major component of myelin) and other terminal beta-galactose–containing sphingolipids, including psychosine (galactosylsphingosine)
- increased psychosine levels lead to widespread destruction of oligodendroglia & demyelination
- galactosylceramide accumulation occurs, causing formation of globoid cells (hematogenous often-multinucleated macrophages containing undigested galactosylceramide), the histologic hallmark.
- has 4 clinical subtypes, distinguished by age of onset:
- Type 1 - Infantile (3 - 6 months)
- Type 2 - Late infantile (6 months - 3 yrs)
- Type 3 - Juvenile (3 - 8 yrs)
- Type 4 - Adult (more than 8 yrs)

- characterized by irritability, hypertonia, hyperesthesia, and psychomotor arrest, followed by rapid deterioration, elevated protein levels in cerebrospinal fluid (CSF), neuroradiologic evidence of white matter disease, optic atrophy
- Aspiration pneumonia and recurrent respiratory infections
- Irreversible neurologic deterioration and death
- Enzyme activity measurement confirms the diagnosis of Krabbe disease when enzyme activity levels are 0-5% of reference values in peripheral blood leukocytes, cultured fibroblasts, cultured amniocytes, and chorionic villi
- Assay of enzyme activity levels in cultured amniocytes or chorionic villi helps in prenatal diagnosis
- Early hematopoietic stem cell transplantation is the only treatment that has been shown to alter the disease progression significantly
superbdoc

Total Posts: 273



Posted: Tue Oct 14, 2008 06:03 am

thanks dear..

In prev AIIMS a qn was there reg the white matter involvement as in MRI..I think it was Krabbe's
juhidr

Total Posts: 149



Posted: Tue Oct 14, 2008 06:43 am

- CT scan brain findings
1. Progressive, diffuse, symmetric cerebral atrophy usually develops, involving both gray and white matter
2. White matter may appear diffusely hypodense, predominantly in the parieto-occipital region.
3. Focal areas of altered signal intensity have been reported.

- MRI - is a more sensitive modality with which to detect high-intensity areas of demyelination in the brainstem and cerebellum.
juhidr

Total Posts: 149



Posted: Tue Oct 14, 2008 06:45 am

that you are awake at 1.00 am in the morning - GIVES ME STIMULUS TO STUDY a few more minutes though i am very sleepy now.
superbdoc

Total Posts: 273



Posted: Tue Oct 14, 2008 06:52 am

ya..I stay awake as its my way to keep mentally strong as its a solitude over the net.....exploring newer methods to concentrate and at the same time relaxing with soothing music played in low volume....

sorry to interrupt your sleep... Laughing

And this post has been irrelevant roo from academic view point...but its surely worth trying... Smile
indent

Total Posts: 54



Posted: Tue Oct 14, 2008 06:59 am

Count me in - I am awake too Wink
varuchinu

Total Posts: 44



Posted: Wed Oct 15, 2008 05:05 am

Natalizumab --- uses : Crohns disease [ earlier ,now stopped bcoz of major side effect - PML [Leucoencephalopathy]
also used in Multiple sclerosis.
varuchinu

Total Posts: 44



Posted: Wed Oct 15, 2008 05:05 am

Natalizumab --- uses : Crohns disease [ earlier ,now stopped bcoz of major side effect - PML [Leucoencephalopathy]
also used in Multiple sclerosis.
varuchinu

Total Posts: 44



Posted: Wed Oct 15, 2008 05:05 am

Natalizumab --- uses : Crohns disease [ earlier ,now stopped bcoz of major side effect - PML [Leucoencephalopathy]
also used in Multiple sclerosis.
juhidr

Total Posts: 149



Posted: Thu Oct 16, 2008 02:38 am

varuchinu - Welcome to the group
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