Summary
Ultrastructural findings in the nervous systems of two Poll Hereford calves affected with maple syrup urine disease or branched chain ketoacid decarboxylase deficiency are described. The calves were affected within 2 days of birth with a severe generalised central nervous system (CNS) disorder characterised by dullness and weakness, progressing to recumbency and opisthotonus. The urine had an odour of burnt sugar. Analysis of plasma and cerebrospinal fluid demonstrated significantly elevated levels of the branched chain amino acids leucine, isoleucine and valine. Status spongiosus affecting mainly the white matter was recorded at microscopic examination of the CNS, with ultrastructural examination confirming the presence of intramyelinic vacuole formation, suggesting myelin oedema.
Similar content being viewed by others
References
Adachi M, Schneck L, Cara J, Volk BW (1973) Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan's disease). Hum Pathol 14:331–347
Adornato B, Lampert P (1971) Status spongiosus and nervous tissue — electron microscopic studies. Acta Neuropathol (Berl) 19:271–289
Agamanolis DP, Potter JL, Herrick MK, Sternberger NH (1982) The neuropathology of glycine encephalopathy: a report of five cases with immunohistochemical and ultrastructural observations. Neurology 32:975–985
Cho Y, Leipold HW (1977) Experimental spongy degeneration in calves. Acta Neuropathol (Berl) 39:115–127
Chou S, Weisman H (1965) Spongy degeneration of the central nervous system. Case of homocystinuria. Arch Pathol 89:542–559
Cordy DR, Richards WPC, Stormont C (1969) Hereditary neuraxial oedema in Hereford calves. Pathol Vet 6:487–501
Dancis J, Levitz M (1978) Abnormalities of branched chain amino acid metabolism. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease, 4th edn. McGraw-Hill, New York, pp 397–407
Diezel PB, Martin K (1964) Die Ahornsirupkrankheit mit familiärem Befall. Virchows Arch [A] 337:425–445
Greco CM, Powell HC, Garrett RS, Lampert P (1980) Cycloleucine encephalopathy. Neuropathol Appl Neurol 6:349–360
Harper PAW, Healy PJ, Dennis JA (1986) Maple syrup urine disease as a cause of spongiform encephalopathy in calves. Vet Rec 119:62–65
Hooper PT, Best SM, Murray DR (1974) Hyperammonia and spongy degeneration of the brain in sheep affected with hepatic necrosis. Res Vet Sci 16:216–222
Huxtable CR, Dorling PR, Slatter DH (1980) Myelin oedema, optic neuropathy and retinopathy in experimentalstypandra impricta toxicosis. Neuropathol Appl Neurobiol 6:221–232
Jellinger K, Seitelberger F (1970) Spongy degeneration of the central nervous system in infancy. Curr Top Neurol 53:90–160
Johnson AB (1976) Deficiency of ATPase-positive astrocytic processes in spongy degeneration of the nervous system. J Neuropathol Exp Neurol 29:136
Kelly DF, Gaskell CJ (1976) Spongy degeneration of the central nervous system in kittens. Acta Neuropathol (Berl) 35:151–158
Lampert PW, Schochet SS (1968) Electron microscopic observations on experimental spongy degeneration of the cerebrellar white matter. J Neuropathol Exp Neurol 27:210–220
Lampert PW, O'Brien J, Garrett R (1973) Hexaclorophene encephalopathy. Acta Neuropathol (Berl) 23:326–333
Martin JJ, Schlote W (1972) Central nervous system lesions in disorders of amino acid metabolism. J Neurol Sci 15:49–76
Naughten ER, Jenkins J, Francis DEM, Leonard JV (1982) Outcome of maple syrup urine disease. Arch Dis Child 57:918–921
O'Brien DP, Zachary JF (1985) Clinical features of spongy degeneration of the central nervous system in two Labrador Retriever littermates. J Am Vet Med Assoc 186:1207–1210
Rizzuto N, Gambetti PL (1976) Status spongiosus of rat central nervous system induced by actinomycin D. Acta Neuropathol (Berl) 36:21–30
Silberman J, Dancis J, Feigin I (1961) Neuropathological observations in maple syrup urine disease. Arch Neurol 5:351–363
Stumpf B, Kraus H, Kasten R (1976) The influence of branched chain aminoacids and their ketoderivatives on renal gluconeogenesis. Curr Probl Clin Biochem 6:51–64
Suzuki K (1971) Some new observations in triethyl tin intoxication of rats. Exp Neurol 31:207–213
Suzuki K, Kikkana Y (1969) Status spongiosus of CNS and hepatic changes induced by cuprizone (biscyclohexanone oxalyldihydrazone). Am J Pathol 54:307–325
Tanaka K, Rosenberg LE (1985) The disorders of branched chain amino acid and organic acid metabolism. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5 th edn. McGraw-Hill, New York, pp 451–457
Yajima K, Suzuki K (1979) Ultrastructural changes of oligodendroglia and myelin sheats induced by ethidium bromide. Neuropath Appl Neurobiol 5:49–62
Zachary JF, O'Brien DP (1985) Spongy degeneration of the central nervous system in two canine littermates. Vet Pathol 22:561–571
Author information
Authors and Affiliations
Additional information
Supported in part by a Wool Research Trust Fund postgraduate scholarship to one of us (P.A.W.H.)
Rights and permissions
About this article
Cite this article
Harper, P.A.W., Healy, P.J. & Dennis, J.A. Ultrastructural findings in maple syrup urine disease in Poll Hereford calves. Acta Neuropathol 71, 316–320 (1986). https://doi.org/10.1007/BF00688055
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00688055