In this, part 2 of the histopathologic approach to the diagnosis of metabolic disease of the liver, the steatotic, cirrhotic, and neoplastic groups are addressed. See the previous issue, Volume 1, Number 3, of Pediatric and Developmental Pathology for part 1 [1]. The perspective concludes with a tabulated assessment of the likelihood of diagnostic ascertainment.
JevonGP, DimmickJE. Histopathologic approach to metabolic liver disease: Part 1. Pediatr Dev Pathol1998;1:179–199.
2.
BoveKE, McAdamsAJ, PartinJC, PartinJS, HugG, SchubertWK. The hepatic lesion in Reye's syndrome. Gastroenterology1975;69:685–697.
3.
SvobodaDJ, ReddyJK. Pathology of the liver in Reye's syndrome. Lab Invest1975;32:571–579.
4.
PartinJS, DaughertyCC, McAdamsAJ, PartinJC, SchubertWK. A comparison of liver ultrastructure in salicylate intoxication and Reye's syndrome. Hepatology1984;4:687–690.
5.
DaughertyCC, GartsidePS, HeubiJE, SaalfeldK, SnyderJ.A morphometric study of Reye's syndrome. Correlation of reduced mitochondrial numbers and increased mitochondrial size with clinical manifestations. Am J Pathol1987; 129:313–326.
OdievreM, GentilC, GautierM, AlagilleD.Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients. Am J Dis Child1978;132:605–608.
10.
DuboisR, LoebH, Malaisse-LagaeF, ToppetM.Etude clinique et anatomo-pathologicque de deux cas d'intolerance congenital au fructose. Pediatrie1965;20:5–14.
11.
YuD, BurchH, PhilipsM.Pathogenesis of fructose hepatotoxicity. Lab Invest1074;30:85–91.
12.
DennehiPO'SheaP, AbueloD.A newborn infant with bilious vomiting and jitteriness. J Pediatr1985;106:161–166.
13.
FayonM, LamireauT, Bioulac-SagePFatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. Gastroenterology1992;103:1332–1335.
14.
Bioulac-SageP, Parrot-RoulaudF, MazatJP, Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology1993;18:839–846.
15.
BakkerHD, ScholteHR, DingemansKP, SpelbrinkJN, WijburgFA, Van den BogertC.Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr1996;128:683–687.
16.
Maaswinkel-MooijPD, Van den BogertC, ScholteHR, OnkenhoutW, BrederooP, PoorthuisBJ. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr1996; 128:679–683.
BennettMJ, RinaldoP, MillingtonDS, TanakaK, YokotaI, CoatesPM. Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol1991;11:889–895.
20.
BoveKE. Letter to the editor. Pediatr Pathol1992;12:621–625.
TreemWR, WitzlebenCA, PiccoliDA, Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reyes syndrome. Hepatology1986;6:1270–1278.
23.
KamiyaM, TadaakiE, KishimotoH.Glutaric aciduria type II: autopsy study of a case with electron-transferring flaboprotein dehydrogenase deficiency. Pediatr Pathol1990; 10:1007–1019.
24.
WongL.Biochemical and histologic pathology in an infant with CRM(—) pyruvate carboxylase deficiency. Pediatr Res1986;20:274–279.
25.
Capistrano-EstradaS, MarsdenDL, NyhanWL, NewburyRO, KrousHF, TuchmanM.Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol1994;14:235–243.
26.
DehnerLP, SnoverDC, SharpHL, AscherN, NakhlehR, DayDL. Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver. Hum Pathol1989;20:149–158.
27.
RussoPO'ReganS.Visceral pathology of hereditary tyrosinemia type I. Am J Hum Genet1990;47:317–324.
28.
WeinbergA, MizeC, WorthenH.The occurrence of hepatoma in a chronic form of hereditary tyrosinemia. J Pediatr1976;88:434–438.
29.
ManowskiZ, SilverMM, RobertsEA, SuperinaRA, PhillipsMJ. Liver cell dysplasia and early liver transplantation in hereditary tyrosinemia. Mod Pathol1990;3:694–701.
30.
LindstedtS, HolmeE, LockEA, HjalmarsonO, StrandvikB.Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet1992; 340:813–817.
31.
LabergC, LescaultA, TanguayR.Hereditary tyrosinemia (type 1): a new vista on tyrosine toxicity and cancer. Adv Exp Biol Med1986;206:209–221.
HoogstratenJ, de SaDJ, KniselyAS. Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis. Gastroenterology1990;98:1699–1701.
34.
SilverMM, BeverleyDW, ValbergLS, CutzE, PhillipsMJ, ShaheedWA. Perinatal hemochromatosis. Clinical, morphologic, and quantitative iron studies. Am J Pathol1987; 128:538–554.
SilverMM, ValbergLS, CutzE, LinesLD, PhillipsMJ. Hepatic morphology and iron quantitation in perinatal hemochromatosis. Comparison with a large perinatal control population, including cases with chronic liver disease. Am J Pathol1993;143:1312–1325.
37.
KniselyAS, PAOS, StocksJF, DimmickJE. Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis. J Pediatr1988;113:871–874.
