Clinical and genetic characteristics of patients with mucopolysaccharidosis disease

Abstract

MPS is a disease with a great variation according to the type most common type is type III. Hepatosplenomegaly is the most prevalent presenting symptom also it is a prevalent clinical sign on examination. The mean age of onset was 2 years ± 1.24and at diagnosis was 3.8 years ± 2.03. ENT symptoms were the most prevalent above all symptoms. Surgeries are common in the past history of MPS patients specifically adenotonsillectomy and hernia repair. Delay in development was most observed in the language, cognitive, and fine motor aspects. Short stature is prevalent across all types of MPS. Coarse facies with odonatological signs were prevalent across all types of MPS. Enzyme assay level measurement is a good valid tool to exclude MPS because urine gags have a high false-negative rate also it not as specific as enzyme assay. Skeletal manifestations are very severe in MPS type IV patients. Also, the mitral valve is the most affected valve among all types. hearing loss is present with a great percentage in our Egyptian sample of patients. Low IQ is observed in all types except type I&IV&VI but IQ assessment and quality of life are difficult to assess in those who affected.