An uncommon presentation of mucopolysaccharidosis type IIIB similar to the landau-kleffner syndrome
Iranian Journal of Child Neurology,
Vol. 13 No. 3 (2019),
1 July 2019
,
Page 105-111
https://doi.org/10.22037/ijcn.v13i3.16536
Abstract
Abstract
Mucopolysaccharidosis type III (MPS III; Sanflilippo syndrome) is a metabolic disorder characterized by a lysosomal enzyme deficiency in the catabolic pathway of heparan sulphate. The patients with mucopolysaccharidosis type III usually present with declined neurocognitive functions such as speech and hearing loss. Subtle somatic features of patients with mucopolysaccharidosis type III can lead to diagnostic delay and consequently a greater neurocognitive deterioration may happen. Herein, we report a 9-year-old boy who had developed normally until the age of 4 years when his symptoms initiated with behavioral disturbances such as auditory agnosia and decreased verbal communication. Progression of his symptoms to seizure and ataxia, brain perfusion scan and electroencephalography features strongly suggested landau-kleffner syndrome; however, results of gene sequencing analysis and high urinary glycosaminoglycan excretion confirmed mucopolysaccharidosis type III as his final diagnosis. This case strongly recommends screening for metabolic disorders such as mucopolysaccharidosis type III in the patients diagnosed as having landau-kleffner syndrome.
- Mucopolysaccharidosis type III
- Landau-kleffner syndrome
- Electroencephalography
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References
Valstar M, Ruijter G, Van Diggelen O, Poorthuis B, Wijburg F. Sanfilippo syndrome: a mini-review. Journal of inherited metabolic disease. 2008;31(2):240-52.
Wijburg FA, Węgrzyn G, Burton BK, Tylki‐Szymańska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Pædiatrica. 2013;102(5):462-70.
Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. American journal of medical genetics Part A. 2011;155(1):58-68.
Stefanatos G. Changing perspectives on Landau-Kleffner syndrome. The Clinical Neuropsychologist. 2011;25(6):963-88.
Fandiño M, Connolly M, Usher L, Palm S, Kozak FK. Landau–Kleffner syndrome: A rare auditory processing disorder: Series of cases and review of the literature. International journal of pediatric otorhinolaryngology. 2011;75(1):33-8.
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics. 2007;120(5):e1255-e61.
Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, et al. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype‐phenotype correlations. Annals of neurology. 2010;68(6):876-87.
Engel J. Report of the ILAE classification core group. Epilepsia. 2006;47(9):1558-68.
Pearl PL, Carrazana EJ, Holmes GL. The Landau‐Kleffner Syndrome. Epilepsy currents. 2001;1(2):39-45.
Husain AM, Escolar ML, Kurtzberg J. Neurophysiologic assessment of mucopolysaccharidosis III. Clinical neurophysiology. 2006;117(9):2059-63.
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