This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Al-Essa, M. Articles by Rahbeeni, Z. Search for Related Content PubMed PubMed Citation Articles by Al-Essa, M. Articles by Rahbeeni, Z. Social Bookmarking                         What's this?

Zeliweger Syndrome in Saudi Arabia and Its Distinct Features

Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia

Gursev S. Dhaunsi, PhD

M. Rashed, PhD

Department of Biological, and Medical Research, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia

Pinar T. Ozand, MD, PhD

Departments of Pediatrics and Biological and Medical Research, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia

Z. Rahbeeni, MD

Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia

Clinical and laboratory findings of Zellweger syndrome (ZS) patients diagnosed at King Faisal Specialist Hospital and Research Center (KFSH & RC), Riyadh, Saudi Arabia over a period of 10 years are presented in this report. Eleven patients (nine females and two males) from 2 to 4 months old were referred to KFSH & RC for evaluation of hypotonia, seizures, and dysmorphic features. The common clinical findings included high forehead, large fontanelle, shallow orbit ridges, micrognathia, upslanting palebral fissures, epicanthal folds, severe hypotonia, hyporeflexia, pigmentary retinopathy, optic nerve atrophy, complete or partial agenesis of corpus callusum, and failure to thrive. We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency. Some unique clinical findings were the presence of gallstones, club feet, or bilateral knee or hip dislocation in some patients. All patients had markedly elevated plasma levels of very long chain fatty acids (VLCFA). Electron microscopy performed on liver biopsies of two patients revealed absence of peroxisomes. Biochemical studies of dermal fibroblasts from three patients showed deficient 13-oxidation of lignoceric acid and dihydroxyacetone phosphate acyltransferase (DHAPATase) activity. The tribal living in Saudi Arabia and our observation that 10 of the 11 parents in this study were first-degree relatives and, except for families 1 and 3, each family had at least another baby who died of the same disease. This suggests that the incidence of ZS in Saudi Arabia may actually be higher than our experience at KFSH & RC.

Clinical Pediatrics, Vol. 38, No. 2, 77-86 (1999)
DOI: 10.1177/000992289903800203


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				L.M. Leijser, L.S. de Vries, M.A. Rutherford, A.Y. Manzur, F. Groenendaal, T.J. de Koning, M. van der Heide-Jalving, and F.M. Cowan Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging AJNR Am. J. Neuroradiol., August 1, 2007; 28(7): 1223 - 1231. [Abstract] [Full Text] [PDF]

				M. S. Rashed, L. Y. Al-Ahaidib, H. Y. Aboul-Enein, M. Al-Amoudi, and M. Jacob Determination of L-Pipecolic Acid in Plasma Using Chiral Liquid Chromatography-Electrospray Tandem Mass Spectrometry Clin. Chem., December 1, 2001; 47(12): 2124 - 2130. [Abstract] [Full Text] [PDF]

				K. S. Roth Peroxisomal Disease-Common Ground for Pediatrician, Cell Biologist, Biochemist, Pathologist, and Neurologist Clinical Pediatrics, March 1, 1999; 38(2): 73 - 75. [PDF]