Pediatric Radiology

, Volume 13, Issue 6, pp 313–318 | Cite as

Biliary disease in metachromatic leukodystrophy

  • Linda Heier
  • A. Daneman
  • J. Alexander Lowden
  • E. Cutz
  • Susan Craw
  • D. J. Martin


This paper illustrates the previously unreported sonographic changes in the biliary tract in metachromatic leukodystrophy (MLD). Gallbladder wall thickening due to sulfatide deposition, intraluminal globules of sulfatide or papillomatosis may cause symptoms referrable to the biliary tract in these patients. A series of patients whom, we have studied is briefly alluded to in order to bring to the attention of the radiologist MLD as a rare cause of biliary disease in children.

Key words

Biliary tract Metachromatic leukodystrophy Ultrasound 


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  1. 1.
    Abe T, Ishiba S, Fukuyama Y (1977) The lipid analysis and some characterization of sulfate containing glycolipid of the mucous layer of the gallbladder from a patient with metachromatic leucodystrophy. Japan J Exp Med 47:129Google Scholar
  2. 2.
    Austin JH (1957) Metachromatic form of diffuse cerebrat sclerosis. 2. Diagnosis during life by isolation of metachromatic lipids from urine. Neurology 7:716Google Scholar
  3. 3.
    Austin JH (1958) Observations in metachromatic leucoencephalopathy. Trans Am Neurol Assoc 83:149Google Scholar
  4. 4.
    Austin JH (1959) Metachromatic sulfatices in cerebral white matter and kidney. Proc Soc Exp Biol Med 100:361Google Scholar
  5. 5.
    Dalinka M, Rosen RA, Kurth RJ, Hemming VG (1969) Metachromatic leukodystrophy — a cause of cholelithiasis in childhood. Am J Dig Dis 14:603Google Scholar
  6. 6.
    Dische M (1969) Metachromatic leukodystrophic polyposis of the gallbladder. J Pathol 97:388Google Scholar
  7. 7.
    Dubois G, Turpin JC, Banmann N (1975) Absence of ASA activity in healthy father of a patient with metachromatic leucodystrophy. N Engl J Med 293:302Google Scholar
  8. 8.
    Dulaney JT, Moser HW (1978) Sulfatide lipidosis: Metachromatic leucodystrophy. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease, 4th ed. McGraw-Hill, New York, pp 770–809Google Scholar
  9. 9.
    Hagberg B, Sourander P, Svennerholm L (1962) Sulfatide lipidosis in childhood. Report of a case investigated during life and at autopsy. Am J Dis Child 104:644Google Scholar
  10. 10.
    Jatzkewitz H (1958) Zwei Typen von Cerebrosidschwefelsäureester sog. “Pralipoide” und Speichersubstanzen bei der Leukodystrophie Typ Scholz (metachromatische Form der diffusen Sklerose). Hoppe Seyler Z Physiol Chem 311:279Google Scholar
  11. 11.
    Kaback MM, Miles J, Yaffe M (1978) Hexosaminidase A (Hex A) deficiency in early adulthood: A new type of GM2 gangliosidosis. Am J Hum Genet 30:31AGoogle Scholar
  12. 12.
    Kihara H (1975) Metachromatic leucodystrophy: An unusual defect. In: Buchwald NA, Brazier MAB (eds) Brain mechanisms in mental retardation. New York, Academic Press, pp 501–506Google Scholar
  13. 13.
    Kihara H (1982) Genetic heterogeneity in metachromatic leucodystrophy. Am J Hum Genet 34:171Google Scholar
  14. 14.
    Kihara H, Ho CK, Fluharty AL, Tsay KK, Hattlage PL (1980) Prenatal diagnosis of metachromatic leucodystrophy in a family with pseudoarylsulfatase A deficiency by the cerebroside sulfate loading test. Pediatr Res 14:224Google Scholar
  15. 15.
    Kleinman P, Winchester P, Volberg F (1976) Sulfatide cholecystosis. Gastrointest Radiol 1:99Google Scholar
  16. 16.
    Kohn R (1969) Papillomatosis of the gallbladder in metachromatic leukodystrophy. Am J Clin Path 52:737Google Scholar
  17. 17.
    Lowden JA, Skomorowsky, MA, Novak A, Strasberg RM (1982) Enzymological diagnosis of lysosomal storage disorders. In: Porter IH (ed) Clinical genetics: problems in diagnosis and counselling. XII Birth Defects SymposiumGoogle Scholar
  18. 18.
    Navon R, Argov Z, Brand N, Sandbank U (1981) Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype. Neurology 31:1397Google Scholar
  19. 19.
    Navon R, Geiger B, Ben-Joseph Y, Rattazzi MC (1976) Low levels of hexosaminidase A in healthy individuals with apparent deficiency. Am J Hum Genet 28:339Google Scholar
  20. 20.
    Newman DE (1973) Gallstones in children. Pediar Radiol 1100Google Scholar
  21. 21.
    Norman RM (1947) Diffuse progressive metachromatic leucoencephalopathy. Brain 70:234Google Scholar
  22. 22.
    Peiffer J (1959) Über die metachromatischen leucodystrophien (Typ Scholz). Arch Psychiatr Nervenk 199:386Google Scholar
  23. 23.
    Scholz W (1925) Klinische, pathologisch-anatom sche und erbbiologische Untersuchungen bei familiärer diffuser Hirnsclerose im Kindesalter. Z Gesamte Neurol Psychiat 99:42Google Scholar
  24. 24.
    Shapiro LJ, Aleck KA, Kaback MM, Itabashi H, Desnick RJ, Brand N, Stevens RL, Fluharty AL, Kihara H (1979) Metachromatic leucodystrophy without arylsulfatase A deficiency. Pediatr Res 13:1179Google Scholar
  25. 25.
    Stevenson RE, Howell RR, McKusick VA, Suskind R, Hanson JW, Elliott DE, Neufeld EF (1976) The iduronidase deficiency mucopolysaccharidoses — clinical and roentgenographic studies. Pediatrics 57:111Google Scholar
  26. 26.
    Willner JP, Grabowski GA, Gordon RE, Bender AN, Desolck RJ (1981) Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical morphologic and biocherical studies of nine cases. Neurology 31:787Google Scholar
  27. 27.
    Wolfe HJ, Pietra GG (1964) The visceral lesions of metachromatic leukodystrophy. Am J Pathol 44:921Google Scholar
  28. 28.
    Yatziv S, Erickson RP, Epstein CJ (1977) Mild and severe Hunter syndrome (MPS II) within the same sibships. Clin Genet 11:319Google Scholar

Copyright information

© Springer-Verlag 1983

Authors and Affiliations

  • Linda Heier
    • 1
  • A. Daneman
    • 1
  • J. Alexander Lowden
    • 2
  • E. Cutz
    • 3
    • 4
  • Susan Craw
    • 1
  • D. J. Martin
    • 1
  1. 1.Department of Radiologythe Hospital for Sick ChildrenTorontoCanada
  2. 2.Department of Pediatricsthe Hospital for Sick ChildrenTorontoCanada
  3. 3.Department of Pathologythe Hospital for Sick ChildrenTorontoCanada
  4. 4.University of TorontoTorontoCanada

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