Nota Clínica

Zellweger syndrome. Reports on two new cases

C. Cáceres-Marzal, J. Vaquerizo-Madrid, M. Girós-Blasco, F. Ruiz, F. Roels [REV NEUROL 2003;36:1030-1034] PMID: 12808498 DOI: https://doi.org/10.33588/rn.3611.2003091

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Volumen 36 | Number 11 | Nº of views of the article 30.653 | Nº of PDF downloads 1.024 | Article publication date 01/06/2003

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ABSTRACT

INTRODUCTION Zellweger syndrome, or cerebrohepatorenal syndrome, is the most serious form of the peroxisomal diseases. Clinically, it is characterised by the association between craniofacial dysmorphia and neurological disorders, together with the involvement of other organs. To perform a diagnosis it is advisable to follow a procedural protocol that begins with the quantification of very long chain fatty acids in an assortment of samples (serum, fibroblasts and mononucleate cells), plasmalogens, branched chain fatty acids in serum (phytanic and pristanic acids), polyunsaturated acids and bile salts. Studies conducted with neuroimaging, renal echography, skeletal X-rays and biopsy samples of different tissues will provide us with information about the involvement of different organs. CASE REPORTS. The first case we report is that of a male who, from birth, presented a distinctive phenotype with very large fontanelles, important hypotonia, epileptic seizures and acute organic disorders that led to death at the age of seven weeks. The second case involved a new-born male suffering from prenatally diagnosed heart disease and craniofacial dysmorphia with hypotonia.

CONCLUSIONS Given the scarce survival rate of patients, early diagnosis of this type of disease is crucial and, although complex, a study must be conducted so as to be able to provide genetic counselling. KeywordsCerebrohepatorenal syndrome Craniofacial dysmorphism Neonatal hypotonia Peroxisomal diseases Zellweger syndrome

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Nota Clínica

Zellweger syndrome. Reports on two new cases