TY  - JOUR
A1  - Lorenz, Delia
A1  - Musacchio, Thomas
A1  - Kunstmann, Erdmute
A1  - Grauer, Eva
A1  - Pluta, Natalie
A1  - Stock, Annika
A1  - Speer, Christian P.
A1  - Hebestreit, Helge
T1  - A case report of Sanfilippo syndrome - the long way to diagnosis
T2  - BMC Neurology
N2  - 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.
KW  - Mucopolysaccharidosis IIIa
KW  - diagnostic delay
KW  - genotype-phenotype correlation
KW  - p.S298P
KW  - p.R245H
Y1  - 2022
UR  - https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/30046
UR  - https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-300465
VL  - 22
IS  - 1
ER  -