Home >> Study >> ForumTopic: Krabbe's Disease
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| juhidr Total Posts: 149 | Posted: Tue Oct 14, 2008 05:27 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 |
| indent Total Posts: 54 | Posted: Tue Oct 14, 2008 06:53 am aiims nov 07 question was - 1. Molecular change in lysosomal storage disorder is ? A. mutation of genes encoding lysosomal hydrolases B. Defective fusion of lysosome and phagosome C. membrane defect of lysosome D. increased synthesis of some substrates Ans from you summary would obviously be A. Good work juhi |
| indent Total Posts: 54 | Posted: Tue Oct 14, 2008 07:00 am another aiims nov 07 question was - 2. Deep white matter lesion with bilateral deep bright thalamic appearance is suggestive of ? A. alexander disease B. canavan's disease C. krabbe's disease D. metachromatic leukodystrophy Ans. krabbe's disease - CT scan brain findings (by juhi) 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. |