18.03.2022 | Case Report
Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report
verfasst von:
Pablo Martín-Juste, Isabel Parada-Avendaño, Victoria E. Gómez-Palacio, Jorge Gil-Albarova
Erschienen in:
Child's Nervous System
|
Ausgabe 8/2022
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Excerpt
Hunter syndrome or mucopolysaccharidosis type II (MPS II) is included in the group of inherited storage diseases caused by lysosomal deposition of glycosaminoglycans (GAG). Hunter syndrome is an X-linked disorder caused by an enzyme deficiency of iduronidate-2-sulfatase (IDS). Along with Hurler, Scheie, Maroteaux-Lamy syndromes and mucolipidoses types II and III, they form a group of metabolic disorders associated with carpal tunnel syndrome (CTS) in childhood [
1,
2]. Onset of symptoms generally occurs at 18 months of age, with few or no signs at birth [
3]. Upon assessment of pediatric CTS, various etiologies must be considered other than lysosomal storage diseases such as lipofibromatous hamartoma, hemangioma, primary familial CTS, intensive sport participation, and trauma [
4]. Many of the atypical clinical characteristics are observed by their caregivers: nocturnal awakenings, fine motor task clumsiness, hand clapping, hand rubbing, chewing, and sucking on fingers [
2,
5,
6]. The challenges in communication and examination due to patients’ young age, cognitive impairment, delay in language and psychomotor retardation may contribute to a diagnostic delay. …