Document Detail

Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate.
MedLine Citation:
PMID:  9688768     Owner:  NLM     Status:  MEDLINE    
We report a neonate with neonatal hemochromatosis (NH), renal tubular dysgenesis (RTD), and hypocalvaria. NH is a fatal condition of the newborn, characterized by severe idiopathic liver failure of intrauterine onset and siderosis, intra- and extrahepatic, with sparing of the reticuloendothelial system. RTD is characterized by short, abnormally developed cortical tubules that lack proximal tubule differentiation. Although both NH and RTD have been reported as entities with a genetic component, similar findings can be secondary to in utero insults. Hypocalvaria has been reported in association with fetal hypoxia including that secondary to angiotensin converting enzyme inhibitors. This 38-week-old infant died at 8.5 h. The small nodular liver weighed 44 g. Grossly, the kidneys were normal. Hypocalvaria was present. Microscopically, the hepatic parenchyma was distorted by fibrous tracts, proliferation of bile ducts, and abundant iron deposition in hepatocytes. Extrahepatic siderosis in the pancreas, myocardium, and other organs was consistent with NH. Proximal convoluted tubules were not seen on routine stains and markers for proximal tubules were negative. Previous reports have linked NH with RTD and RTD with hypocalvaria. This infant had all three of these rare conditions, which have been hypothesized or shown to be due to genetic factors, hypoxia, or drugs. The etiology in this case is unknown.
J S Johal; J W Thorp; C E Oyer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  1     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    1998 Sep-Oct
Date Detail:
Created Date:  1999-09-30     Completed Date:  1999-09-30     Revised Date:  2006-05-08    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  433-7     Citation Subset:  IM    
Program in Developmental Pathology, Brown University School of Medicine and Women and Infants Hospital, 101 Dudley Street, Providence, RI 02905, USA.
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MeSH Terms
Abnormalities, Multiple / pathology*
Biological Markers / analysis
Fatal Outcome
Hemochromatosis / congenital*,  pathology
Infant, Newborn
Kidney Tubules, Proximal / abnormalities*,  chemistry
Liver Cirrhosis / congenital,  pathology
Skull / abnormalities*
Reg. No./Substance:
0/Biological Markers

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

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