Summary
A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides were also abnormally high. In fibrocytes from conjunctival biopsy and CSF cells numerous vacuoles containing storage material were found. The presence of vacuoles in fibrocytes from conjunctival biopsy and/or in CSF cells can be useful in the diagnosis of many suspected lysosomal storage disorders.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P (1979) Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. Clin Genet 15:500–504
Bitter T, Muir HM (1962) A modified uronic acid carbazole reaction. Anal Biochem 4:330–334
Constantopoulos G, Dekaban AS (1970) Acid mucopolysaccharides in the cerebrospinal fluid of patients with Hunter-Hurler-syndrome. J Neurochem 17:117–120
Federico A, Robert J, Carlomagno S, Guazzi GC (1977) Neurochemical study of Sanfilippo A disease. Excerpta Medica 427:172
Federico A, Robert J, Zanetta JP, Guazzi GC (1981) Neurochemical study of Sanfilippo A disease. Ital J Neurol Sci (in press)
Kenyon KR, Quigley HA, Hussels IE, Wyllie RG, Goldberg MF (1972) The systemic mucopolysaccharidoses. Amer J Ophthal 73:811–833
Kenyon KR, Sensenbrenner JA (1971) Mucopolipidosis II (I cell disease). Ultrastructural observation of conjunctiva and skin. Invest Ophthalmol 10:555–567
Liem KO, Giesberts AH, Van de Kamp JJP, Van Pelt JF, Hooghwinkel JJM (1976) Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs. Clin Genet 10:273–278
Lowry OH, Rosebough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folinphenol reagent. J Biol Chem 193:265–275
O'Brien JS (1972) Sanfilippo syndrome: profound deficiency of a-N-acetyl-glucosaminidase activity in organs and skin fibroblasts from type B patients. Proc Nat Acad Sci (Wash) 69:1720–1722
Sanfilippo SJ, Podosin R, Langer LO Jr, Good RA (1963) Mental retardation associated with acid mucopolysacchariduria (heparin sulfate type). J Pediat 63:837–838
Sayk J (1954) Ergebnisse neuer liquor-cytologischer Untersuchungen mit dem Sedimentkammerverfahren. Ärztl Wochenschr 1042–1046
Sayk J (1960) Cytologie der cerebrospinalen Flüssigkeit. VEB Fischer, Jena
Scheie HG, Hanbrick GW, Barness LA (1962) A newly recognized forme fruste of Hurler syndrome A. J Ophthalmol 53:753–769
Spaeth GL, Frost P (1965) Fabry's disease. Its ocular manifestations. Arch Ophthalmol 74:760–769
Spranger J (1962) The systemic mucopolysaccharidoses. Ergebn Inn Med Kinderheilk 32:165–265
Van de Kamp JJP, Van Pelt JF, Liem GO, Giesberts MAH, Niepoth LTM, Staalman CR (1976) Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships. Clin Genet 10:279–284
Van Hoof F, Libert J, Aubert-Tulkens G, Serra MV (1977) The assay of lacrymal enzymes and the ultrastructural analysis of conjunctival biopsies: new techniques for the study of inborn lysosomal disease. Metab Ophthal 1:165–171
Von Figura K, Kresse H (1972) The Sanfilippo B corrective factor: an N-acetyl-a-d-glucosaminidase. Biochem Biophys Res Commun 48:262–269
Von Figura K, Logering M, Mersmann G, Kresse H (1973) Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families. J Pediat 83:607–611
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Federico, A., Capece, G., Cecio, A. et al. Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy. J Neurol 225, 77–83 (1981). https://doi.org/10.1007/BF00313321
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00313321