Hemiatrophy of the Spinal Cord in a Patient With Mucopolysaccharidosis Type IIIB

Abstract

The authors describe a girl with mucopolysaccharidosis type IIIB (Sanfilippo disease). She presented with speech delay, macrocephaly, and left lower limb hypoatrophy. Her brain and spinal cord imaging revealed diffuse cystic brain lesions and hemiatrophy of her spinal cord on the left (thoracic levels 11/12). She had marked reduction of her α-N-acetylglucosaminidase activity assay consistent with the diagnosis of mucopolysaccharidosis type IIIB. Mutational analysis showed 2 mutations on exon 6 of the α-N-acetylglucosaminidase gene, both of which were identified in her parents. At 10 years of age the girl had minor learning difficulties and mild behavioral problems. Her spinal cord hemiatrophy, in association with mucopolysaccharidosis type III, has not previously been described in the literature.

Keywords

mucopolysaccharidosis IIIB spinal cord hemiatrophy vertebral column

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References

Neufield EF , Muenzer J. The mucopolysaccharidosis. In: Scriver CR , Beaudet AL , Sly WS , Valle D , eds. The Metabolic and Molecular Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill ; 1995:2465-2494.

Cleary MA , Wraith JE Management of mucopolysaccharidosis type III. Arch Dis Child . 1993;69:403-406.

Van de Kamp JJP , Niermeijer MF , Von Figura K. , Gieberts MAH. Genetic Heterogeneity and clinical variability in the San Filippo syndrome. Clin Genet. 1981 ;20:152-160.

Meikle PJ , Hopwood JJ , Clague AE , Carey WF Prevalence of lysosomal storage disorders. JAMA. 1999; 281:249-254.

Beratis NG , Sklower SL , Wilbur L. , Matalon R. San filippo disease in Greece. Clin Genet. 1986;29:129-132.

Lowry RB , Applegarth DA , Toone JR , et al. An update on frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet. 1990;13:849-861.

Weber B. , Guo XH , Kleijer WJ , et al. San Filippo type B syndrome (mucopolysaccharidosis IIIB). Allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet. 1999;7:33-44.

Barone R. , Nigro F. , Triulzi F. , et al. Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (San Filippo syndrome). Neuropediatrics. 1999;30:270-274.

Zafeiriou DI , Savvopoulou-Augoustidou PA , Sewell A. , et al. Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (San Filippo syndrome B). Brain Dev. 2001;23: 385-389.

10.

Lee C. , Dineen TE , Brack M. , et al. The mucopolysaccharidosis: characterization by cranial MR imaging. Am J Neuroradiol. 1993 ;14:1285-1292.

11.

Barone R. , Fiumara A. , Guglielmo RDV , et al. Extraneurologic symptoms as presenting signs of Sanfilipo disease . Pediatr Neurol. 2001;25:254-257.

12.

Van Schrojenstein-de Valk HMJ , van de Kamp JJP , Reynolds JF Follow-up on seven adult patients with mild San Filippo B disease. Am J Med Genet. 1987 ;28:125-129.

13.

Valstar MJ , Ruitjer GJG , Diggelen van OP , et al. San Filippo syndrome a mini review. J Inherit Metab Dis. 2008;31: 240-252.

14.

Barone R. , Parano E. , Trifiletti RR , et al. White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: characterization by MRI. J Neurol Sci. 2002;195: 171-175.