Document Detail

Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome.
MedLine Citation:
PMID:  24050659     Owner:  NLM     Status:  Publisher    
Abstract Mitochondrial DNA (mtDNA) depletion syndrome is a rare cause of hepatic dysfunction in the pediatric population. It is caused by mutations in either mitochondrial or nuclear DNA (nDNA) that result in a quantitative reduction in mtDNA and, in turn, dysfunctional oxidative phosphorylation. In infants, it results in the hepatocerebral phenotype characterized by hyperbilirubinemia, coagulopathy, lactic acidosis, hypoglycemia, lethargy, encephalopathy, developmental delay, and hypotonia. Three infants diagnosed with mtDNA depletion syndrome at The Children's Hospital of Philadelphia were identified and their clinical presentation, disease course, and histologic and ultrastructural features of liver samples (premortem and postmortem) were characterized. While a different mutant gene was identified in each child, they all showed clinical evidence of metabolic dysfunction soon after birth and expired by 1 year of age. Steatosis, cholestasis, and cytoplasmic crowding by atypical mitochondria were consistent pathologic liver findings. Other findings included hepatocyte hypereosinophilia, fibrosis, and hemosiderosis. The infantile form of mtDNA depletion syndrome is exceedingly rare with few published case reports. This study presents a series of 3 patients with mtDNA depletion syndrome diagnosed at a single institution. Although the number of affected patients is small, it represents one of the largest reported series and is the first to establish the important clinical and pathologic features of mtDNA depletion syndrome in infants and young children. Recognizing these characteristics will facilitate early recognition and appropriate treatment of this rare disorder. Key Words: DNA depletion, liver, metabolic dysfunction, mitochondria, pediatric.
Florette Kimberly Hazard; Can Ficicioglu; Jaya Ganesh; Eduardo Ruchelli
Related Documents :
24759899 - Correction: spectral parameters modulation and source localization of blink-related alp...
21852019 - Is complement a culprit in infection-induced forms of haemolytic uraemic syndrome?
21919379 - Torsade de pointes during sevoflurane anesthesia and fluconazole infusion in a patient ...
21817879 - Cocaine-induced thrombotic vasculopathy.
25137869 - Anesthetic considerations and management of a patient with unsuspected carcinoid crisis...
24804129 - Hellp syndrome complicated by subcapsular hematoma of liver: a case report and review o...
22596079 - Self-reported fever and measured temperature in emergency department records used for s...
24140889 - Advances in pathogenesis and current therapeutic strategies for cardiorenal syndrome.
9402579 - Use of cerebrospinal fluid shunts in patients having acquired immunodeficiency syndrome...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-9-19
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  -     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-9-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
a Stanford University, Pathology.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Investigating the Role of Zinc and Copper Binding Motifs of Trafficking Sites in the Cyanobacterium ...
Next Document:  Fabrication of Cu2ZnSn(S,Se)4 Photovoltaic Device by a Low-Toxic Ethanol Solution Process.