A patient with Pearson‘s Syndrome: a clinical and genetic study.

Sara Seneca, Linda De Meirleir, Willy Lissens, N. Balduck, Ingeborg Liebaers

Research output: Chapter in Book/Report/Conference proceedingMeeting abstract (Book)

Abstract

Here, we report on a patient suffering from Pearson's syndrome, a multisystem disorder of the oxidative metabolism (MIM 26056). The medical history of the male infant was unremarkable. At 18 months of age he presented with chronic diarrhea. An acute and severe metabolic acidosis was found with elevated lactic/pyruvate molar ratios. The psychomotor development of the child was normal.
As part of the work-up for lactic acidosis mt DNA in leukocytes was examined. Southern blot analysis showed a _ spanning about 2.7 kb. The % of the _ mt DNA was >95% of the total mt DNA content. The mt genomes of fibroblasts, muscle, liver and intestinal biopsy tissue were also examined for _ mt DNA molecules : in all tissues tested, a variable but high content of the mutated mt DNA could be detected. We have determined the exact position of the deletion by sequence analysis. It was found to be exactly 2690 bp long and to strike 3 of 13 protein genes, encoded by normal mt DNA, and 3 of the 22 tRNA genes.
Administration of dichlooracetic acid (DCA) was started and resulted in controlling the lactic acidosis. Recently the patient developed signs of anemia and neutropenia. Bone marrow examination was consistent the hematological problems. Long term therapeutic efficacy of this treatment remains still unclear.
This case illustrates the variable clinical onset of Pearson's disease. We also suggest that DCA should be given in case of persistent lactic acidosis.
Original languageEnglish
Title of host publication6th ICIEM, Milano, Italy
Pages230-230
Number of pages1
Publication statusPublished - 1994
EventUnknown -
Duration: 1 Jan 1994 → …

Conference

ConferenceUnknown
Period1/01/94 → …

Keywords

  • Pearson‘s Syndrome

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