Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

Journal of Medical Case Reports

Ludger Schöls⁵  Peter Bauer¹  Chrysovalantis Sourlis⁶  Abdelnaser Zalan⁴  Muhammad Mahajnah³  Rajech Sharkia² 

[1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany;Beit-Berl Academic College, Beit-Berl 44905, Israel;Rappaport Faculty of Medicine, Technion, 31096 Haifa, Israel;The Triangle Regional Research and Development Center, P. O. Box-2167, Kfar Qari' 30075, Israel;Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler Str. 3, 72076 Tübingen, Germany;German Research Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany

关键词: Israeli Arabs;    T139M mutation;    Sanfilippo type A;    Mucopolysaccharidosis type III;   

Others  :  822627
DOI  :  10.1186/1752-1947-8-78

 received in 2013-09-09, accepted in 2013-12-16,  发布年份 2014

【 摘 要 】

Introduction

Sanfilippo syndrome type A (mucopolysaccharidosis IIIA - MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by a deficiency in sulfamidase.

Case presentation

Two daughters (13 and 11 years old) of a consanguineous Palestinian family from the Israeli Arab community were investigated clinically and genetically for the presence of progressive neurodegenerative disease, psychomotor retardation and behavioral abnormalities. Development was normal up to one year of age. Thereafter, progressive motor and speech delay started. Metabolic screening including glycosaminoglycans, karyotype testing and magnetic resonance imaging were normal. Later in the disease, they developed severe spasticity and intellectual disability with autistic features and incontinence. Magnetic resonance imaging revealed diffuse hypomyelination with thinning of the corpus callosum. Genetic examination through whole exome sequencing revealed a homozygous mutation c.416C >T (p.T139M) in the N-sulfoglucosamine sulfohydrolase (SGSH) gene. Repeated biochemical testing at age 11 and 13 revealed increased levels of glycosaminoglycans confirming the diagnosis of Sanfilippo syndrome type A.

Conclusion

These cases were considered to be the first report of Sanfilippo syndrome in Israel. We recommend that if similar clinical features are present during childhood, it is preferred to go directly and primarily for a genetic diagnosis of Sanfilippo syndrome, then secondarily for other lysosomal storage disorders that may also be involved.

【 授权许可】

   
2014 Sharkia et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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