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Abstract

Abstract
Background: No metabolic cause of Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome or PEHO-like patients has been found. The goal of this study was to assess the serum lipid pattern of the patients.
Methods: This study included 8 patients with PEHO syndrome (aged 6.3 + 3.28 years) and 10 patients with PEHO-like syndrome (aged 5, 8+ 4.15) years. Serum cholesterol, high-density cholesterol and triglycerides were measured by enzymatic colorimetric tests. Statistical analysis for comparison of serum cholesterol, HDL cholesterol and triglycerides in PEHO and PEHO-like groups were done using a nonparametric Mann-Whitney two-tailed test.
Results: Two PEHO and six PEHO-like patients had subnormal values (reference value > 0.93 mmol/L, Helsinki University Laboratory). The other patients showed serum high-density cholesterol within the lower normal limits. The mean serum high-density cholesterol of all PEHO patients was 0, 97 (SD+ 0,14) mmol/L and PEHO-like patients 0, 85 (SD + 0.19) mmol/L. Total cholesterol and triglycerides were normal or increased in both groups. None of the patients had metabolic syndrome. All patients were extremely hypotonic showing no spontaneous movements.
Conclusions: The high prevalence of low high-density cholesterol is a novel finding in these patients with many dysmorphic features. However, it is not known whether it is primary or secondary to the neurodegenerative disease.

Keywords

lipid metabolism progressive encephalopathy with edema hypsarrhythmia optic atrophy

Article Details

How to Cite
Riikonen, R. (2015). Low high-density cholesterol in patients with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome and PEHO-like patients. Journal of the International Child Neurology Association, 1(1). https://doi.org/10.17724/jicna.2015.106

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  15. Cite this article as: Riikonen R.: Low High-Density Cholesterol in Patients with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and PEHO-like Patients. JICNA 2015 15:106.

    DOI: http://dx.doi.org/10.17724/jicna.2015.106