Tllcl Seoul Journml of Medicine Vol 36 No 28591 egeneration A Case Report Mee Hye Oh1 Chong Jai Kim1 Je G Hwangs Chang Wang4 Cho4 Dcpmrtrrzunts f Puthologv Rudil ID: 939641
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Tllcl Seoul Journml of Medicine Vol. 36, No. 2:85-91, June 1995 Canavan Disease (Spongy Cerebral ~egeneration) - A Case Report - Mee Hye Oh1, Chong Jai Kim1, Je G. Hwangs, Chang Wang4, Cho4 Dc~pmrtrrzunts ~f Puthologv , Rudi~log))~, Seoul National Universitjt Medicine, Seoul, of Alzheimer type I1 astrocytes throughout the cer- there was astrocytes and between myelin lamellae. Key words : Canuvan disease, Spongy cereb
ral degeneration, N-acetylaspartic acid, Aspartoacylase INTRODUCTION Canavan degener- at~on of wh~te matter, and is particularly preva- lent in Jewish people of Ashkenazi origin. The flrst patlent with leukodystrophy and N-acetylas- partic (NAA) to aspartoacylase with that choline in ~nvolved (Fig. 1). The involved wh~te matter did matter(Fig. 2A). contrast infusion. equal peak of NAA spectroscopy showed NAA(N-acetylaspartate)
com- Fig. 2. Proton MR spectroscopy showing relatively h~gh peak of the NAA comparing w~th that of cholrne rn left deep whrte matter (Frg 2A), Left basal ganglra reglon equal peak chol~ne (Fig 2B) vacuoles form from splitting myelin sheaths and intramyel~n~c flu~d accumulation sease remains obscure. Matalon et a/., ered increased excretion of D'Adamo et a/., & Shigematsu et a/., stressed the important role of N
AA in myelination. Brain is the only organ where biosynthesis of NAA been demonstrat- myelin, and formation CoA and aspartate by L -aspartate-N-acetyl transferase (Patel et a/., 1980). It is metabolized to aspartate and acetyl by aspar- toacylase, and aspartate is transformed into acetyl CoA by brain acetate t hiokinase. Acetyl CoA NAA level skin fibroblasts CD. prenatal diagnosis possible as a affected families (Matalon et
a/., the central nervous (van Bogaert Hum Pathol ; 4: 331 -346 Banker BQ, Victor H. Spongy degeneration of infancy. In Goodman R, Jews. New ; Banker BQ, Spongy de- the central 981 -1 L, Bertrand idiotie fam- iliale avec degerescence sponglieuse de neur- axe(note preliminaire). Acta Neurol Belg 1949; 49 : Spongy Degeneration Brain in North Hol- 3-1 32 Spongy degeneration system:a 4 cases literature. Neurology ; 15: 207-222 Canavan
MM. Schilder's encephalitis periaxialis d~ffusa. Arch Neurol ; 25: 299 -308 D'Adamo AF, Gidez LI, port mechanisms. -aspartic acid In de novo : Gambetti P, spongy degeneration disease). Acta ; 103-1 15 Globus Progressive degenerative encephalopathy(Sc Neurol Paychiatr ; 90-1 228 I, Venizelos partic due to aspartoacylase de- Metab Dis 1987; 10: 135 -1 41 Matalon R, K, Sebasta ~spartoacylase aciduria in ients with ; 29
: 463-471 Matalon R, Kaul RK, Casanova J et a/., Aspar- in Can- Metab Dis 1989; 12: 329-331 Matalon R, Kaul RK, Michals K. Canavan Dis- ease: Biochemical and Molecular Studies. J lnher Metab Dis 1993; 16: 744-752 Patel JB. Synthesis -aspartate by rat brain mitochondria and its involvement in mitochondria1 cytosolic carbon transport. Biochem J 1979 ; Okamura N, heat stable the conversion glutamic acid J Neurochem ; 40 : 81