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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.
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References
Riikonen R: Infantile spasms in siblings. J Pediatr Neurosci 1987, 3: 235-244.
Salonen R, Somer M, Haltia M, Lorentz M, Norio R (1991) Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 39 (4):287-93. PMID: 2070547
Somer M (1993) Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 30 (11):932-6. PMID: 8301648
Sorva R, Lankinen S, Tolppanen EM, Perheentupa J (1990) Variation of growth in height and weight of children. II. After infancy. Acta Paediatr Scand 79 (5):498-506. PMID: 2386041
Riikonen R (2001) The PEHO syndrome. Brain Dev 23 (7):765-9. PMID: 11701291
Riikonen R, Somer M, Turpeinen U (1999) Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration. Epilepsia 40 (11):1642-8. PMID: 10565594
Vanhatalo S, Riikonen R (2000) Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Epilepsia 41 (6):705-8. PMID: 10840402
Viikari JS, Juonala M, Raitakari OT (2006) Trends in cardiovascular risk factor levels in Finnish children and young adults from the 1970s: The Cardiovascular Risk in Young Finns Study. Exp Clin Cardiol 11 (2):83-8. PMID: 18651040
Knuiman JT, Hermus RJ, Hautvast JG (1980) Serum total and high density lipoprotein (HDL) cholesterol concentrations in rural and urban boys from 16 countries. Atherosclerosis 36 (4):529-37. PMID: 7417370
Yu H, Patel SB (2005) Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet 68 (5):383-91. DOI: 10.1111/j.1399-0004.2005.00515.x PMID: 16207203
Miettinen H, Gylling H, Ulmanen I, Miettinen TA, Kontula K (1995) Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency. Arterioscler Thromb Vasc Biol 15 (4):460-7. PMID: 7749857
Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI (2001) Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 98 (2):191-200. PMID: 11223857
Escalante Y, Saavedra JM, García-Hermoso A, Domínguez AM (2012) Improvement of the lipid profile with exercise in obese children: a systematic review. Prev Med 54 (5):293-301. DOI: 10.1016/j.ypmed.2012.02.006 PMID: 22387009
Taimela S, Lehtimäki T, Porkka KV, Räsänen L, Viikari JS (1996) The effect of physical activity on serum total and low-density lipoprotein cholesterol concentrations varies with apolipoprotein E phenotype in male children and young adults: The Cardiovascular Risk in Young Finns Study. Metabolism 45 (7):797-803. PMID: 8692011
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
References
Riikonen R: Infantile spasms in siblings. J Pediatr Neurosci 1987, 3: 235-244.
Salonen R, Somer M, Haltia M, Lorentz M, Norio R (1991) Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 39 (4):287-93. PMID: 2070547
Somer M (1993) Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 30 (11):932-6. PMID: 8301648
Sorva R, Lankinen S, Tolppanen EM, Perheentupa J (1990) Variation of growth in height and weight of children. II. After infancy. Acta Paediatr Scand 79 (5):498-506. PMID: 2386041
Riikonen R (2001) The PEHO syndrome. Brain Dev 23 (7):765-9. PMID: 11701291
Riikonen R, Somer M, Turpeinen U (1999) Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration. Epilepsia 40 (11):1642-8. PMID: 10565594
Vanhatalo S, Riikonen R (2000) Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Epilepsia 41 (6):705-8. PMID: 10840402
Viikari JS, Juonala M, Raitakari OT (2006) Trends in cardiovascular risk factor levels in Finnish children and young adults from the 1970s: The Cardiovascular Risk in Young Finns Study. Exp Clin Cardiol 11 (2):83-8. PMID: 18651040
Knuiman JT, Hermus RJ, Hautvast JG (1980) Serum total and high density lipoprotein (HDL) cholesterol concentrations in rural and urban boys from 16 countries. Atherosclerosis 36 (4):529-37. PMID: 7417370
Yu H, Patel SB (2005) Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet 68 (5):383-91. DOI: 10.1111/j.1399-0004.2005.00515.x PMID: 16207203
Miettinen H, Gylling H, Ulmanen I, Miettinen TA, Kontula K (1995) Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency. Arterioscler Thromb Vasc Biol 15 (4):460-7. PMID: 7749857
Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI (2001) Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 98 (2):191-200. PMID: 11223857
Escalante Y, Saavedra JM, García-Hermoso A, Domínguez AM (2012) Improvement of the lipid profile with exercise in obese children: a systematic review. Prev Med 54 (5):293-301. DOI: 10.1016/j.ypmed.2012.02.006 PMID: 22387009
Taimela S, Lehtimäki T, Porkka KV, Räsänen L, Viikari JS (1996) The effect of physical activity on serum total and low-density lipoprotein cholesterol concentrations varies with apolipoprotein E phenotype in male children and young adults: The Cardiovascular Risk in Young Finns Study. Metabolism 45 (7):797-803. PMID: 8692011
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