RESUMEN
A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides were also abnormally high. In fibrocytes from conjunctival biopsy and CSF cells numerous vacuoles containing storage material were found. The presence of vacuoles in fibrocytes from conjunctival biopsy and/or in CSF cells can be useful in the diagnosis of many suspected lysosomal storage disorders.
Asunto(s)
Mucopolisacaridosis/diagnóstico , Mucopolisacaridosis III/diagnóstico , Acetilglucosaminidasa/deficiencia , Niño , Conjuntiva/patología , Diagnóstico Diferencial , Glicosaminoglicanos/líquido cefalorraquídeo , Humanos , Masculino , Mucopolisacaridosis III/genética , Mucopolisacaridosis III/patología , LinajeAsunto(s)
Mucopolisacaridosis II , Mucopolisacaridosis II/genética , Adolescente , Adulto , Niño , Femenino , Glicosaminoglicanos/metabolismo , Humanos , Iduronato Sulfatasa/sangre , Deformidades Congénitas de las Extremidades , Masculino , Mucopolisacaridosis II/metabolismo , Mucopolisacaridosis II/patología , Linaje , Cráneo/anomalías , Columna Vertebral/anomalíasRESUMEN
Urinary GAGs analysis in Progressive Myoclonus Epilepsy (PME) showed an accumulation of uronic acid in the fraction eluted by 1 M NaCl and 3 M NaCl. As analogous changes were found in other myoclonic and epileptic patients receiving large doses of anticonvulsant drugs, these alterations in the GAG urinary pattern were not considered a primary disturbance of PME.