Počet záznamov: 1
Canavanovej choroba
SYS d017825 LBL 00000cz--a2200000n--4500 005 20250606213309.5 008 930216|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.362.375 065 $a C10.228.140.695.625.375 065 $a C10.314.400.375 065 $a C10.574.500.300 065 $a C16.320.400.150 065 $a C16.320.565.189.362.375 065 $a C18.452.132.100.362.375 065 $a C18.452.648.189.362.375 066 $a 01 $c 03 150 $a Canavanovej choroba $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 665 $a 94 $2 eng 665 $a Cerebral Sclerosis, Diffuse (1981-1993) $2 eng 665 $a Demyelinating Diseases (1967-1993) $2 eng 680 9-
$i A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) $2 eng 680 $a do not confuse entry term CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS $2 eng 750 -2
$a Canavan Disease $2 eng 980 $x M
Počet záznamov: 1