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Tab af motoriske færdigheder hos en treårig med lysosomal sygdom

Forfatter(e)
Thea Schouenborg Schultz & Mette Møller Handrup
Børn og Unge, Aarhus Universitetshospital

Ugeskr Læger 2019;181:V05190316
Reference: 
Ugeskr Læger 2019;181:V05190316
Blad nummer: 

Thea Schouenborg Schultz & Mette Møller Handrup:

Loss of motoric function in a three-year-old boy with lysosomal storage disease

Ugeskr Læger 2019;181:V05190316

This case report describes a three-year-old boy with delayed development of language, who developed erythema migrans. Soon after peroral antibiotics was initiated, he also had loss of motoric function, and he developed ataxia. Neuroborreliosis was diagnosed, and antibiotic treatment was changed to intravenous. There was no gain of his motoric skills. A test was made for lysosomal storage disease, and neuronal ceroid lipofuscinosis type 2 was found. The patient started intraventricular enzyme substitution treatment as the first patient in Denmark. Treatment has shown to reduce the progression of functional decline.

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