دورية أكاديمية
Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome.
| العنوان: | Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome. |
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| المؤلفون: | Tajan A; School of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Riebel A; School of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Zavala MJ; Department of Neonatology, Hospital Base Valdivia, Valdivia, Chile., Quiroz L; Department of Pediatrics, Hospital Base Valdivia, Valdivia, Chile.; Institute of Pediatrics, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Monzón P; Department of Pediatrics, Hospital Base Valdivia, Valdivia, Chile.; Institute of Pediatrics, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Ardiles L; Nephrology Laboratory, Institute of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile., Krall P; Nephrology Laboratory, Institute of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile.; Department of Pediatrics and Child Surgery, Faculty of Medicine, University of Chile, Santiago, Chile., Lehmann P; Department of Pediatrics, Hospital Base Valdivia, Valdivia, Chile. paulalehmann@gmail.com.; Institute of Pediatrics, Faculty of Medicine, Universidad Austral de Chile, Valdivia, Chile. paulalehmann@gmail.com. |
| المصدر: | Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Feb; Vol. 39 (2), pp. 447-450. Date of Electronic Publication: 2023 Sep 08. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Berlin : Springer International Original Publication: Berlin : Springer International, c1987- |
| مواضيع طبية MeSH: | Mitochondrial Diseases*/complications , Mitochondrial Diseases*/diagnosis , Mitochondrial Diseases*/genetics , Anemia*/diagnosis , Myelodysplastic Syndromes*/complications , Myelodysplastic Syndromes*/diagnosis , Myelodysplastic Syndromes*/genetics , Exocrine Pancreatic Insufficiency*, Infant ; Humans ; Female ; Child, Preschool ; DNA, Mitochondrial/genetics |
| مستخلص: | Background: Anemia exhibits complex causation mechanisms and genetic heterogeneity. Some cases result in poor outcomes with multisystemic dysfunction, including renal tubulopathy. Early diagnosis is crucial to improve management. Case-Diagnosis/treatment: A 21-month-old female patient was admitted with severe anemia. Persistent neutropenia and dysplastic signs suggested myelodysplastic syndrome, but targeted gene panel results were negative. After multiple transfusions, spontaneous hematologic recovery was observed. At 4 years old, she presented failure to thrive, renal Fanconi syndrome, and severe metabolic acidosis. Differential diagnosis included Pearson syndrome (PS), a life-threatening condition associated with mitochondrial DNA (mtDNA), featuring anemia and pancreatic insufficiency. Further analysis revealed a ~ 7.5 kb mtDNA deletion. Until the age of 5, supportive care has been provided, without pancreatic insufficiency. Conclusions: This PS case highlights the importance of genetic testing, even in the absence of typical features. Understanding the nature of mitochondrial disorders enables treatment tailoring and counseling about the prognosis. (© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.) |
| References: | Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, Hoffman R, Marsh JC (1979) A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95:976–984. https://doi.org/10.1016/s0022-3476(79)80286-3. (PMID: 10.1016/s0022-3476(79)80286-3501502) Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC (2022) Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure. Orphanet J Rare Dis 17:379. https://doi.org/10.1186/s13023-022-02538-9. (PMID: 10.1186/s13023-022-02538-9362538209575259) Emma F, Bertini E, Salviati L, Montini G (2012) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 27:539–550. https://doi.org/10.1007/s00467-011-1926-6. (PMID: 10.1007/s00467-011-1926-621656172) Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A (1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4:1327–1330. https://doi.org/10.1093/hmg/4.8.1327. (PMID: 10.1093/hmg/4.8.13277581370) Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM (2016) Mitochondrial diseases. Nat Rev Dis Primers 2:16080. https://doi.org/10.1038/nrdp.2016.80. (PMID: 10.1038/nrdp.2016.8027775730) |
| فهرسة مساهمة: | Keywords: Anemia; Fanconi syndrome; Mitochondrial DNA; Myelodysplastic syndrome; Pearson syndrome |
| المشرفين على المادة: | 0 (DNA, Mitochondrial) |
| SCR Disease Name: | VLCAD deficiency |
| تواريخ الأحداث: | Date Created: 20230908 Date Completed: 20231219 Latest Revision: 20231219 |
| رمز التحديث: | 20231219 |
| DOI: | 10.1007/s00467-023-06114-6 |
| PMID: | 37682370 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1432-198X |
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| DOI: | 10.1007/s00467-023-06114-6 |