Abstract
Canavan disease (CD) is a rare leukodystrophy which is lethal in infancy or early childhood. The underlying biochemical abnormality in CD is a hereditary deficiency ofN-aspartoacylase transmitted in an autosomal recessive fashion. We report on the ultrasound (US), CT, and MRI findings of three unrelated boys with biochemically confirmed CD. At 6 and 9 months of age, two CD patients with rapid neurological deterioration showed markedly enhanced acoustic attenuation of the white matter with the exception of the corpus callosum, giving the appearance of a reversed pattern of echogenicity of cortical gray and subcortical white matter. While gyri and sulci had an almost normal US appearance, the periventricular gray matter featured prominently with increased echogenicity. In contrast another CD patient with a more protracted course had ventricular enlargement when examined by US at 5 and 9 months but no alteration in white matter echogenicity. MRI showed impaired myelinization in all three patients with Canavan disease.
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Canavan M (1931) Schilder's encephalitis periaxialis diffusa. Arch Neurol Psychiatry 25: 299–308
Van Bogaert L, Bertrand I (1949) Sur une idiotie familiale avec dégénérescence spongieuse du nevraxe (note préliminaire). Acta Neurol Belg 49: 572–587
Echenne B, Divry P, Vianey-Liaud C (1989) Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) andN-acetylaspartic aciduria. Neuropediatrics 20: 79–81
Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency andN-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29: 463–471
Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M (1989) SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherited Metab Dis 12 (Suppl 2): 329–331
Grodd W, Krageloh-Mann I, Klose U, Sauter R (1991) Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology 181: 173–181
Marks HG, Caro PA, Wang Z, Detre JA, Bogdan AR, Gusnard DA, Zimmerman RA (1991) Use of computed tomography, magnetic resonance imaging, and localized1H magnetic resonance spectroscopy in Canavan's disease: a case report. Ann Neurol 30: 106–110
Brismar J, Brismar G, Gascon G, Ozand P (1990) Canavan disease: CT and MR imaging of the brain. Am J Neuroradiol 11: 805–810
McAdams HP, Geyer CA, Done SL, Deigh D, Mitchell M, Ghaed VN (1990) CT and MR imaging of Canavan disease. Am J Neuroradiol 11: 397–399
Moers A von, Sperner J, Michael T, Scheffner D, Schutgens RH (1991) Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency. Dev Med Child Neurol 33: 824–828
Valk J, Knaap MS van der (1989) Canavan's disease. In: Magnetic resonance of myelin, myelination, and myelin disorders. Springer, Berlin Heidelberg New York, pp 137–140
Harbord MG, LeQuesne GW (1988) Alexander's disease: cranial ultrasound findings. Pediatr Radiol 18: 341–343
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Bührer, C., Bassir, C., von Moers, A. et al. Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease). Pediatr Radiol 23, 395–397 (1993). https://doi.org/10.1007/BF02011970
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DOI: https://doi.org/10.1007/BF02011970