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01.12.2014 | Case report | Ausgabe 1/2014 Open Access

Journal of Medical Case Reports 1/2014

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2014
Autoren:
Rajech Sharkia, Muhammad Mahajnah, Abdelnaser Zalan, Chrysovalantis Sourlis, Peter Bauer, Ludger Schöls
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-8-78) contains supplementary material, which is available to authorized users.
Rajech Sharkia, Muhammad Mahajnah contributed equally to this work.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

RS and LS conceived of the study, and participated in its coordination and contributed in writing the manuscript. MM carried out the clinical diagnosis and analyzed the patient data and helped in writing the manuscript. CS and PB carried out the molecular genetics approach and helped to draft the manuscript. AZ analyzed and interpreted the patient data and contributed in critical writing of the manuscript. All authors read and approved the final manuscript.

Abstract

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.

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