Abstract
AbstractBackground: 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.
Highlights
No metabolic cause for Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO) syndrome or PEHO-like patients has been found
PEHO syndrome is characterized by profound psychomotor retardation, hypotonia presenting at birth, early onset epilepsy with infantile spasms, and visual failure
There are isolated reports of PEHO syndrome occurring in other countries, such as Japan, the Netherlands, Australia, and Canada
Summary
No metabolic cause for 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. PEHO syndrome is characterized by profound psychomotor retardation, hypotonia presenting at birth, early onset epilepsy with infantile spasms, and visual failure. The patients have dysmorphic characteristics and peripheral and facial subcutaneous oedema. There is narrow forehead, epicanthal fold, short nose, open mouth, small chin, midfacial hypoplasia, protruding lower parts of auricles, and tapering fingers. PEHO syndrome seems to be over-presented in Finland. The minimum prevalence is estimated to be 1:70,000. There are isolated reports of PEHO syndrome occurring in other countries, such as Japan, the Netherlands, Australia, and Canada
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