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.