Pearson's syndrome presenting with Fanconi syndrome.
A case of Pearson's marrow-pancreas syndrome is presented. The dominant clinical feature was a generalized disorder of proximal tubule function with severe renal magnesium wasting. Renal and muscle biopsies were performed and showed bizarre giant mitochondria.
Gilbert
R D
RD
Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, South Africa. rgilbert@ich.uct.ac.za
Emms
M
M
D000756:Anemia, Sideroblastic / Q000175:diagnosis; D001706:Biopsy; D001853:Bone Marrow / Q000648:ultrastructure; D001855:Bone Marrow Diseases / Q000175:diagnosis; D005198:Fanconi Syndrome / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007668:Kidney / Q000648:ultrastructure*; D007684:Kidney Tubules / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure*; D017240:Mitochondrial Myopathies / Q000150:complications / Q000175:diagnosis*; D018482:Muscle, Skeletal / Q000648:ultrastructure*; D010182:Pancreatic Diseases / Q000175:diagnosis; D013577:Syndrome