Campos-Hernández D, Monaga-Castillo M, Herrera-Vallejera D, Pampín-Delgado Y, Alonso-Jiménez E, Morales-Peralta E

Language: Spanish
References: 14
Page: 116-120
PDF size: 243.53 Kb.

ABSTRACT

Introduction. Mucopolysaccharidosis type I is one of the most frequent lysosomal diseases. It is caused by a deficiency of the enzyme alpha-Liduronidase, resulting in systemic disorders. Due to similar clinical picture to other MPS types, it is necessary to perform various biochemical tests as to get an accurate diagnosis. In this report we describe the clinical and biochemical diagnosis of a MPS I patient.
Clinical case. A five year old child was taken into hospital seeking medical assistance for umbilical and inguino-scrotal hernias as well as coarse face. Physical examination was practiced, cranial and thorax-abdomen radiographies and preliminary biochemical tests such as qualitative determination of total urine mucopolysaccharides and thin-layer chromatography were also performed. The final diagnosis was based on a low alpha L-iduronidase enzymatic activity of leukocytes samples.
Discussion. This patient had typical clinical and radiological signs of a mucopolysaccharidosis. The qualitative analysis allowed us to demonstrate an excessive excretion of urinary mucopolysaccharides, a characteristic pattern of a MPS I. The patient enzimatic activity was less than 10 % of that of the negative control, which demonstrated an alpha-L-iduronidase deficiency. This final result confirmed the clinical suspicion of a MPS I, that helped medical staff to find the right treatment, as well as counseling this family on genetic matters.

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