Abstract
IntroductionSanfilippo syndrome type A (mucopolysaccharidosis IIIA - MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by a deficiency in sulfamidase.Case presentationTwo 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.ConclusionThese 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.
Highlights
Sanfilippo syndrome type A 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
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, secondarily for other lysosomal storage disorders that may be involved
Summary
This study is considered to be the first report that described two patients with Sanfilippo syndrome in Israel. MRI imaging revealed diffuse hypomyelination with thinning of the corpus callosum that might be associated with this syndrome. Consent Written informed consent was obtained from the parents of our patients for publication of this case report and the accompanying images. 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
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