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The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction.We review our experience in the diagnosis of cases of peroxisomal diseases with an altered VLCFA pattern; these were determined in serum only when there was a strong clinical suspicion up to the end of 1998, when their quantification by chromatography was introduced into our laboratory.The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFA pattern were identified, all of them males. There were two cases of Zellweger syndrome spectrum, one unclassified peroxisomal oxidation defect and seven X-linked adrenoleukodystrophies (four with neurological compromise and three with no neurological damage; two were identified in siblings of patients and the other due to the presence of Addison's syndrome).In our 10 cases, the diagnosis was guided by the clinical or familial features that led to the determination of VLCFA. Being able to determine VLCFA makes early systematic diagnosis of patients possible. At present, VLCFA determination is performed when there is a clinical suspicion of Zellweger spectrum, suspected X-linked adrenoleukodystrophy/adrenomyeloneuropathy of unclear causation, Addison's disease, both in males and females, and above all in cases of chronic encephalopathy of unknown causation, with or without prenatal onset.

Several anthropometrical, immunological and biochemical parameters have been utilized for the detection of chronic undernourishment and inflammation. The present work proposes a comparative study between a control group and other of 24 cardiac patients, with the intention of valuating their nutritional and inflammatory state. We have used the index proposed by Ingenbleek (PINI = prognostic inflammatory and nutritional index) in which nutritional scoreboards and biochemical inflammatories correlate. We find some statistically significant differences between cases and controls, both with regard to the value of the PINI, and with regard to each of this variables. In the same way, we do not find any important correlations within each group among the nutritional biochemical, inflammatory and anthropometrical parameters. The clinical impression shows that the classification by groups of risk obtained according to the value of the PINI is very near to reality. We consider that the PINI index is useful as a predictive and evolutive parameter, and it can be used in children with a chronic illness.

Introduccion. Las enfermedades peroxisomales tienen una gran heterogeneidad etiologica y clinica. Un perfil alterado de acidos grasos de cadena muy larga (AGCML) es comun a muchas de ellas, lo que facilita su orientacion diagnostica. Pacientes y metodos. Se revisa nuestra experiencia diagnostica en los casos de enfermedad peroxisomal con patron alterado de AGCML, que se determinaban en suero solo ante fuerte sospecha clinica hasta finales de 1998, fecha en que se introdujo en nuestro laboratorio su cuantificacion por cromatografia. Resultados. En la base de datos de neuropediatria de mayo de 1990 a 1 de octubre de 2007 figuran 10.239 casos. Se han identificado 10 casos de enfermedad peroxisomal con patron alterado de AGCML, todos varones: dos casos de espectro de sindrome de Zellweger, un defecto de la beta-oxidacion peroxisomal sin tipificar y siete adrenoleucodistrofias ligadas a X (cuatro con afectacion neurologica y tres sin dano neurologico; dos identificados por ser hermanos de enfermos y el otro por presentar un sindrome de Addison). Conclusiones. En nuestros 10 casos, el diagnostico se oriento por el cuadro clinico o familiar que llevo a la determinacion de AGCML. La disponibilidad de la determinacion de AGCML permite el diagnostico sistematico de pacientes de forma precoz. Actualmente, la realizamos ante sospecha clinica del espectro Zellweger, sospecha de adrenoleucodistrofia/adrenomieloneuropatia ligada a X, leucoencefalopatias de causa no aclarada, enfermedad de Addison, tanto en varones como mujeres, y ante toda encefalopatia cronica de causa no aclarada de inicio prenatal o no.