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dc.contributor.authorSmuts, Izelleen_US
dc.contributor.authorVan der Westhuizen, Francois Hendrikus
dc.contributor.authorPotgieter, Denise
dc.date.accessioned2010-08-04T15:37:28Z
dc.date.available2010-08-04T15:37:28Z
dc.date.issued2009en_US
dc.identifier.citationSmuts, I. et al. 2009. Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. Annals of the New York Academy of Sciences, 1151:77-84 [https://doi.org/10.1111/j.1749-6632.2008.03451.x]en_US
dc.identifier.issn0077-8923
dc.identifier.issn1749-6632 (Online)
dc.identifier.urihttp://hdl.handle.net/10394/3456
dc.identifier.urihttps://doi.org/10.1111/j.1749-6632.2008.03451.x
dc.identifier.urihttps://nyaspubs.onlinelibrary.wiley.com/doi/abs/10.1111/j.1749-6632.2008.03451.x
dc.description.abstractMucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from uridine 5′-diphosphate-N-acetylglucosamine: lysosomal hydrolase N-acetyl-1-phosphotransferase or UDP-GlcNAc 1-phophotransferase deficiency. Clinical manifestations include developmental delay, short stature and other structural abnormalities. Less common clinical features, such as carpal tunnel syndrome, claw hand deformities, trigger fingers, and claw toes have previously been reported, but no specific association with tarsal tunnel syndrome has been reported in the literature. Tarsal tunnel syndrome is caused by entrapment of the posterior tibialis nerve in the tunnel formed by the medial malleolus of the ankle and the flexor retinaculum. It causes pain in the heel and sole of the foot as well as abnormal sensation in the distribution area of nervus tibialis posterior. In adults, the most common cause described is a ganglion. The phenomenon is rare in children and the published series are small. This case report portrays the presentation of a young girl with breath-holding spells secondary to painful bilateral tarsal tunnel syndrome and trigger fingers subsequently diagnosed with MLIII
dc.language.isoen
dc.publisherWiley
dc.subjectTarsal tunnel syndrome
dc.subjectCarpal tunnel
dc.subjectTrigger fingers
dc.subjectBreath‐holding spells
dc.subjectMucolipidosis type II
dc.subjectMucolipidosis type III
dc.subjectLysosomal storage disorders
dc.titleCombined tarsal and carpal tunnel syndrome in mucolipidosis type IIIen_US
dc.contributor.researchID10213503 - Van der Westhuizen, Francois Hendrikus


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