Abstract
Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic acid oxidation, 3-oxoacyl-CoA thiolase) has been repeatedly shown. Recently a variant involving only the peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) has been described. We present a patient with isolated DHAP-AT deficiency and all clinical, radiological and pathological features of classical RCDP. For the first time, microscopy and immunocytochemistry of hepatocytes could be performed. In contrast to studies on classical rhizomelic chondrodysplasia punctata which have shown enlarged peroxisomes in numbers varying from hepatocyte to hepatocyte, the peroxisomes in our patient seem to be normal in size, number and shape.
References
Jan 1, 1979·The Journal of Pathology·W S HwangL K Tan
Sep 1, 1976·European Journal of Pediatrics·E F GilbertC Viseskul
Jan 1, 1992·Journal of Inherited Metabolic Disease·R J WandersJ M Tager
Nov 1, 1992·European Journal of Pediatrics·J L HughesD Sillence
Jun 1, 1992·Human Genetics·J C HeikoopJ M Tager
Jul 26, 1991·Biochimica Et Biophysica Acta·J C HeikoopJ M Tager
Jan 1, 1990·The Histochemical Journal·D De CraemerF Roels
Jan 1, 1990·The Histochemical Journal·M EspeelF Roels
Jan 1, 1991·Virchows Archiv. A, Pathological Anatomy and Histopathology·D De CraemerF Roels
Jan 1, 1991·Journal of Inherited Metabolic Disease·F RoelsD De Craemer
Mar 1, 1990·Pediatric Research·A BalfeP A Watkins
Jan 1, 1990·The Journal of Pediatrics·M G PikeJ G Hall
May 1, 1988·The Journal of Pediatrics·G HoeflerL Rutledge
Jan 1, 1986·Journal of Inherited Metabolic Disease·M A PollockS Gray
Oct 1, 1988·The Journal of Pediatrics·A PoulosS Usher
Jan 1, 1971·Humangenetik·J W SprangerU Bidder
Jan 1, 1994·Journal of Inherited Metabolic Disease·P T ClaytonR B Schutgens
Jan 1, 1993·Biochimie·F RoelsJ M Saudubray
Nov 1, 1993·Ultrastructural Pathology·M EspeelB T Poll-The
Mar 1, 1993·Archives of Disease in Childhood·D G BarrR B Schutgens
Jan 1, 1995·Journal of Inherited Metabolic Disease·R J WandersP Mooijer
Jan 1, 1995·Journal of Inherited Metabolic Disease·I KerckaertG Van Limbergen
Jan 1, 1995·Journal of Inherited Metabolic Disease·R J WandersH van den Bosch
Citations
May 18, 1999·Prenatal Diagnosis·K M BrookhyserD L Rimoin
Nov 18, 1998·Annals of Neurology·M R BaumgartnerJ M Saudubray
Sep 13, 2001·Mental Retardation and Developmental Disabilities Research Reviews·A K Percy, S L Rutledge
Mar 29, 2001·Progress in Lipid Research·N Nagan, R A Zoeller
Mar 7, 2003·Magnetic Resonance Imaging·Alpay AlkanKaya Sarac
Sep 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Y SuzukiN Kondo
Oct 11, 2015·Biochimica Et Biophysica Acta·Myriam Baes, Paul P Van Veldhoven
Mar 2, 2005·Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan·Tomoko WatanabeJohn Alexander Bachynsky
May 23, 2020·Journal of Inherited Metabolic Disease·Hannes TodtJohannes Berger
Jun 19, 2001·Journal of Inherited Metabolic Disease·Y SuzukiN Kondo
Nov 21, 2017·Translational Science of Rare Diseases·Catherine ArgyriouNancy Braverman
May 13, 2003·Microscopy Research and Technique·Marianne DepreterFrank Roels
May 20, 1999·Journal of Child Neurology·A K Percy