Presentación clínica típica y atípica de déficit de pantotenato quinasa, reporte de 2 casos / Typical and atypical presentation pantothenate kinase deficiency: reports of two cases and a review of current literature

Los síndromes de neurodegeneración asociada al hierro son una causa secundaria importante de extrapiramidalismo (1). De aparición entre los 6 y 40 años, se asocian además a cambios comportamentales y demencia (2). La base fisiopatológica son los depósitos de hierro a nivel ganglio basal. De estas enfermedades, la más frecuente es el déficit de pantotenato quinasa (PKAN por su siglas en inglés), constituyendo más del 50% de los casos de esta enfermedad. Se han descrito 2 formas de presentación típica o temprana, y atípica o tardía2. Se reportan a continuación dos casos: uno de presentación típica y otro de presentación atípica, diagnosticados en el hospital San Ignacio de Bogotá, Colombia.

Neurodegenerations associated with iron deposites are an important secondary cause extrapiramidalism. Their onsets are between 6 and 40 years, and are associated with behavioral changes and dementia. The pathophysiological bases are iron deposits at the basal ganglia. Of these diseases, the most frequent is Pantothenate kinase associated neurodegeneration (PKAN by its acronym), which constitutes over 50% of cases of the disease. Two forms of presentation have been described: typical (early onset) and atypical (late onset). We report two cases in the following: one typical and one atypical presentation, both diagnosed in San Ignacio Hospital in Bogotá, Colombia.

The report of Hallervorden-Spatz disease in 3 members of a family / 临床神经病学杂志

Objective To explore the pathogenic course,clinical features and prognosis on hallervorden spatz disease(HSD).Methods To review and sum up clinical data of three patients of 1985 with HSD in one family,and followed up survey in 2001.Results The same parents had three(2 males,1 female) of six children who were suffered from HSD.Clinical features include bilateral pigmentary degeneration of the retina,optic atrophy and progressive dementia,and lay in bed after several years with convulsive seizure,opisthotonus,limb rigidity,hyperreflexia, pyramidal sign positive;they were suited therapy to the illness.2 cases for death,another case for progressive deterioration,the patient lost labour ability and couldn't take care of himself.Conclusion HSD is kindred hereditary disorder,major cases occur the symptoms before 20 years old (progressive deterioration).After attacking about 20 years the patients died.The HSD gene located on chromosome 20p12.3 p13.