krabbe's disease

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BGCOLOR="#FFFFFF" TEXT="#080000"> <div> krabbe's disease</div> <div> <B><U>Krabbe's disease--globoid cell leukodystrophy]</U></B></div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Krabbe disease is a rare, degenerative disorder of the central and peripheral nervous systems.</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It is one of a group of genetic disorders called the <I><B>leukodystrophies</B></I> that affect the growth of the myelin sheath,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> the fatty covering—which acts as an insulator—on nerve fibers in the brain</div> <bR> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. Symptoms vary in prevalence and severity among patients and may include</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> loss of previously attained developmental skills,</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> unexplained fevers, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">irritability, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">myoclonic seizures (sudden, shock-like contractions of the limbs),</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> blindness, </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">spasticity (stiffness of the limbs), </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and paralysis. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Prolonged weight loss may occur also. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Onset of the disorder generally occurs at 3 to 6 months of age.</div> <div>  <A NAME="treatment"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A></div> <div> TREATMENT: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">There is no cure for Krabbe disease. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Treatment for the disorder is symptomatic and supportive</div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">. Physical therapy may help maintain or increase muscle tone and circulation.</div> <bR> <bR> <div>  <A NAME="prognosis"><IMG BORDER="0" SRC="1x1.gif" HEIGHT="1" ALIGN="bottom" WIDTH="1" HSPACE="0" VSPACE="0" ></A>PROGNOSIS: </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The prognosis for individuals with Krabbe disease is poor. </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The disorder is generally fatal before age 2.</div> <bR> <div> <B> <TABLE BORDER="2" CELLPADDING="2" CELLSPACING="1" WIDTH="1003" BORDERCOLORLIGHT="#C0C0C0" BORDERCOLORDARK="#808080" FRAME="BOX" RULES="ALL" ALIGN="BOTTOM" HSPACE="0" VSPACE="0" BGCOLOR=#000099 > <tR> <tD VALIGN=TOP HEIGHT= 943 WIDTH="991"><div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Globoid-cell leukodystrophy (Krabbe disease) is a rapidly progressive, invariably fatal disease of infants.</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It is transmitted as an</B><B><U> autosomal recessive trait.</U></B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> The disease usually begins between </B><B><U>ages 3 and 6 months</U></B><B> </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">with ambiguous symptoms, such as</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> irritability </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">or hypersensitivity to external stimuli, </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">but soon progresses to severe mental and motor deterioration. </B></div> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Patients rarely survive the second year.</U></B><B> </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Clinical manifestations are</B><B><U> limited to the nervous system</U></B><B> with prominent long-tract signs. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">There is </B><B><U>hypertonicity with hyperactive reflexes in the early stages</U></B><B>, </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">but patients later become </B><B><U>flaccid and hypotonic</U></B><B>.</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Blindness and deafness are common.</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> Peripheral neuropathy is almost always detectable. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The clinical picture of the classic infantile form is relatively uniform, but atypical or late-onset forms of the disease are known. </B></div> <bR> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The presence of numerous multinucleated </B><B><U>globoid cells</U></B><B>, almost total</B><FONT SIZE="3" COLOR="#33FFFF" FACE="Arial Narrow" ><B> loss of myelin and oligodendroglia, and astrocytic gliosis in the white matter are the morphologic bases for diagnosis. </B></FONT></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ffff3300.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The globoid cells are hematogenous macrophages that contain undigested galactocerebroside.</B><FONT SIZE="3" COLOR="#FFFF00" FACE="Arial Narrow" ><B> </B></FONT></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ffff3300.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Segmental demyelination, axonal degeneration, fibrosis, and macrophage infiltration are common in the peripheral nervous system.</B><FONT SIZE="3" COLOR="#FFFF00" FACE="Arial Narrow" ><B> </B></FONT></div> <div> <FONT SIZE="3" COLOR="#FFFF00" FACE="Arial Narrow" ><B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Consistent with the </B></FONT><FONT SIZE="3" COLOR="#FF0000" FACE="Arial Narrow" ><B><U>myelin loss, the white matter is severely depleted of all lipids,</U></B></FONT><B><U> </U></B><B>particularly glycolipids</B><FONT SIZE="3" COLOR="#FFFF00" FACE="Arial Narrow" ><B>. </B></FONT></div> <bR> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The ratio of galactocerebroside to sulfatide is abnormally high.</U></B><B> </B></div> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Galactocerebroside (galactosylceramide) is a sphingoglycolipid consisting of</U></B></div> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> sphingosine, </U></B></div> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">fatty acid, </U></B></div> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and galactose, </U></B></div> <div> <B><U><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">and is normally present almost exclusively in the myelin sheath. </U></B></div> <bR> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The cause of Krabbe disease is a </B><FONT SIZE="4" COLOR="#00FF00" FACE="Arial Narrow" ><B>genetic deficiency of galactosylceramidase (galactocerebroside b-galactosidase). </B></FONT></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0cccc9900.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">This lysosomal enzyme normally degrades galactocerebroside to ceramide and galactose</B><FONT SIZE="3" COLOR="#FFFF00" FACE="Arial Narrow" ><B>.</B></FONT></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> It is postulated that accumulation of a toxic metabolite, </B><FONT SIZE="3" COLOR="#FF0000" FACE="Arial Narrow" ><B>psychosine (galactosylsphingo sine), which is also a substrate for the missing enzyme, leads to early destruction of the oligodendroglia.</B></FONT></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f00000ff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> </B><FONT SIZE="3" COLOR="#FFFF00" FACE="Arial Narrow" ><B>The total brain content of galactocerebroside is not increased.</B></FONT></div> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> However, the extensive globoid-cell reaction indicates that impaired catabolism of galactosylceramide is also an important factor in the pathogenesis. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Assays of galactosylceramidase in leukocytes or cultured fibroblasts with the use of appropriate natural glycolipid substrates can establish definitive antemortem diagnosis.</B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> There is no effective therapy, but preventive measures are available through intrauterine diagnosis of affected fetuses by galactosylceramidase assays on amniotic fluid cells or biopsied chorionic villi. </B></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">The human galactosylceramidase gene has been mapped to</B><FONT SIZE="3" COLOR="#33FFFF" FACE="Arial Narrow" ><B> chromosome 14.</B></FONT></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0ffff3300.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0"> </B><FONT SIZE="3" COLOR="#FFFF00" FACE="Arial Narrow" ><B>However, the cDNA or the gene coding for galactosylceramidase has not been cloned; </B></FONT></div> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f000ffff00.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">thus, nucleic acid level information is not yet available</B></div> <bR> <bR> <div> <B><IMG BORDER="0" SRC="Symb075c00b700f0c0dcc000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Globoid-cell leukodystrophy, also due to genetic galactosyl ceramidase deficiency, occurs in other mammalian species, most notably in certain strains of dogs and mice. Clinical and pathological features are similar to those in the human disease. These animal models are invaluable tools for studies of this rare genetic disease. </B></div> <bR> </tD> </tR> </TABLE></B></div> <div> <B>Galactosylceramide Lipoidosis (Krabbe)</B> </div> <div> <FONT SIZE="3" COLOR="#FF00FF" FACE="Wingdings" >l</FONT><B> Galactosylceramide </B><FONT SIZE="3" COLOR="#FF0000" FACE="Symbol" ><B>b</B></FONT><B>-galactosidase ; Chromosome 14q31; Recessive </B></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Childhood </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">CNS </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Mental retardation </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Optic Atrophy </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Tone: Spasticity; Hypertonia (Occasional hypotonia) </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Polyneuropathy </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">ê<FONT SIZE="3" COLOR="#000000" FACE="Arial" > Tendon reflexes </FONT></div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Electrophysiology: Nerve conduction velocities slow </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Later-onset (> 10 years (13 to 38)) forms </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Spasticity: Legs & Bladder </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Polyneuropathy: Predominantly motor </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Other CNS signs: Dysarthria; Optic atrophy </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">MRI: Corticospinal tract & periventricular demyelination </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Genetics </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Most mutations in region coding for 50 kDa subunit </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Occasional mutations in 30 kDa subunit </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">CSF: High Protein </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Electrophysiology: Demyelinating Neuropathy; Slow NCV </div> <bR> <bR> <div> <U><IMG BORDER="0" SRC="Symb075c00b700f0ff000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Pathology</U><FONT SIZE="3" COLOR="#000000" FACE="Arial" > </FONT></div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Hypomyelination of axons </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Inclusions </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Locations: Schwann cells; Histiocytes </div> <div> <IMG BORDER="0" SRC="Wing0a73006f00f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Structure </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Shape: Straight or Slightly curved, Crystalloid & Prismatic </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Contents: Clear & empty on paraffin & ultrastructure </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Rare onion bulbs </div> <div> <IMG BORDER="0" SRC="Symb075c00b700f000000000.gif" HEIGHT="16" WIDTH="24" ALIGN="bottom" HSPACE="0" VSPACE="0">Axonal loss </div> <bR> </td> </tr></table></body>