Back to Search Start Over

A case report of Sanfilippo syndrome – the long way to diagnosis

Authors :
Delia Lorenz
Thomas Musacchio
Erdmute Kunstmann
Eva Grauer
Natalie Pluta
Annika Stock
Christian P. Speer
Helge Hebestreit
Source :
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
Publication Year :
2022
Publisher :
BMC, 2022.

Abstract

Abstract Background Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is characterized by early nonspecific neuropsychiatric symptoms, followed by progressive neurocognitive impairment in combination with only mild somatic features. In this patient group with a broad clinical spectrum a significant genotype-phenotype correlation with some mutations leading to a slower progressive, attenuated course has been demonstrated. Case presentation Our patient had complications in the neonatal period and was diagnosed with Mucopolysaccharidosis IIIa only at the age of 28 years. He was compound heterozygous for the variants p.R245H and p.S298P, the latter having been shown to lead to a significantly milder phenotype. Conclusions The diagnostic delay is even more prolonged in this patient population with comorbidities and a slowly progressive course of the disease.

Details

Language :
English
ISSN :
14712377
Volume :
22
Issue :
1
Database :
Directory of Open Access Journals
Journal :
BMC Neurology
Publication Type :
Academic Journal
Accession number :
edsdoj.b8adb3d70b3344e3811ed2cd12b3a1b8
Document Type :
article
Full Text :
https://doi.org/10.1186/s12883-022-02611-7