A case of 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency presenting as neonatal cholestasis

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Abstracts / Digestive and L

lete normalization of the liver function tests was achieved. He remainedlinically well and was discharged from the hospital at day 42 of life. Sub-equently, he was treated with vitamin E for 6 months. He was completelyealthy during a 12-month period of observation.

Conclusions. There is no conclusive evidence about the effectivenessf the current medical treatment for NH. The favourable outcome describedn this patient suggests that EXT could be a feasible treatment option forhildren affected by NH, as it is for other alloimmune conditions.

oi:10.1016/j.dld.2007.07.101

P 39CASE OF 3�-HYDROXY-�5-C27-STEROID OXIDOREDUCTASE

EFICIENCY PRESENTING AS NEONATAL CHOLESTASIS

. Amoruso a, M. Fuoti a, V. Miceli a, R. Celano a, M. Pinotti a,.T. Dotti b, G. Giordano c, M. Del Puppo d, M.S. Scotta a, G. Nebbia a

Istituto di Pediatria,Fondazione IRCCS Ospedale Maggiore Policlinico,angiagalli e Regina Elena, Milan, ItalyDipartimento di Scienze Neurologiche e del Comportamento-Universitaegli Studi di Siena, ItalyDipartimento di Pediatria-Universita degli Studi di Padova, ItalyDipartimento di Medicina Sperimentale-Universita di Milano-Bicocca,spedale Sant’Antonio Abate-Gallarate, Itlay

Cerebrotendineous xanthomatosis (CX) is an autosomal recessive inbornrror of primary biliary acids synthesis. The deficiency of 3�-�5-C27-ydroxysteroid dehydrogenase is responsible of accumulation of cholestanoln plasma, urine and tissues in affected individuals; the disorder has beenraced to a mutation of the CYP27A1 gene. Most cases present with juvenileataract, tendon xanthomas and a progressive neurologic disorder in adult-ood (over 20 years of age). About 200 cases have been reported; paediatricatients are very rare: neonatal cholestasis, steathorroea, diarrhoea, osteope-ia have been described. We report a case of CX in an infant presenting withevere jaundice and increase of plasma aminotransferases. In our knowledge,his is the first Italian case described in paediatric age.

A female infant of 74 days of age presented slight hepatosplenomegaly,ypocholic stools and a biochemical picture of moderate increase of amino-ransferases and severe conjugated hyperbilirubinaemia, with gamma-GTithin normal values. Other cholestasis indexes and hepatic synthetic func-

ion were completely in the normal range. We excluded most frequentetiologies of neonatal and infant cholestasis: extrahepatic biliary tractbstructions, infectious agents, alpha1-antitrypsin deficiency, CDG syn-romes, most frequent other metabolic diseases (normal ammonia, lactate,lasma and urine amino acids, urine organic acids, sweat test, urine reducingubstances, plasma biliary acids), endocrinopathies. Neurologic, cardio-ogic, skeletal and ophthalmic evaluations were all normal. Abdominalltrasonography revealed only slightly brilliant liver, without any significantlteration of intrahepatic or extrahepatic biliary tract. No other abnormalitiesere found in any other abdominal organ.

Liver biopsy was performed and revealed giant cell hepatitis with intra-ellular and intracanalicular cholestasis, inflammatory changes and focalepatocellular necrosis.

Biliary acids were performed in urine by mass spectrometry revealing arophile compatible with a diagnosis of CX.

Cholestanol dosage, performed by mass-spectrometry, was 3.140 �g/dln.v. 470 �g/dl). Molecular genetic analysis revealed a homozygosis for aeletion of 1.9 kb in the CYP27A gene, responsible of the enzymatic defectescribed in CX.

Therapy with UDCA, early undertaken in this child, was rapidly changedith chenodeoxycholyc acid when the diagnosis was achieved.

Cholestasis completely regressed within the 6-month of life.Conclusion. In front of a case of neonatal cholestasis:

After having excluded the most frequent etiologies, we recommend tofocus on rare inborn error of metabolism of biliary acids.

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sease 39 (2007) A49–A87 A69

Early diagnosis of CX is fundamental, considering that chenodeoxy-cholyc acid is an efficient therapy in this condition and can preventaccumulation of cholestanol in tissues with development of neurologicimpairment.

oi:10.1016/j.dld.2007.07.102

P 40REDICTORS OF UNRESECTABILITY IN HEPATOBLASTOMA:20-YEAR SINGLE CENTRE REPORT

. D’Antiga a, F. Vallortigara a, U. Cillo b, E. Talenti c, M. Rugge d,

. Zancan a, P. Dall’Igna e, G.L. De Salvo f, G. Perilongo a

Department of Paediatrics, University of Padova, ItalyDepartment of Surgery and Gastroenterological Sciences, University ofadova, ItalyInstitute of Radiology, University of Padova, ItalyDepartment of Oncological and Surgical Sciences, University of Padova,

talyDepartment of Paediatric Surgery, University of Padova, ItalyClinical Trials and Biostatistics Unit Istituto Oncologico Veneto, Universityf Padova, Italy

Background. Approximately 20% of cases of hepatoblastoma (HB)emain unresectable after preoperative chemotherapy (PC). In these patientsiver transplantation (LT) should be performed 1 month after PC. However,atient preparation and organ availability often lead to spend longer timen the waiting list. We aimed to find presenting features that predict unre-ectability, to provide suggestions for early referral and listing for LT inatients with hepatoblastoma.

Methods. Notes, radiology films and histology of patients managed inhe last 20 years were reviewed. Unfeasible resection was defined by bilobarnvolvement, vascular extension or metastatic disease after PC. Failed con-ervative treatment (FCT) refers to cases that are not disease-free with theirative liver after at least 1 year from surgery.

Results. We studied 28 patients, of whom 14 had a resection whereas 10equired OLT. Four had no surgery because of tumour progression. Overallhe 5-year survival is 76% (95% CI: 54.8–89.0). Predictors of FCT were

ultifocality (p = 0.006), high pre-treatment extent of tumour score (PRE-EXT III or IV) (p = 0.006), portal vein (p = 0.02), hepatic vein (p = 0.02) orena cava (p = 0.05) involvement. Patients cured by resection presented at aounger age (median of 0.7 vs. 4.2 years; p = 0.02). Patients with multifocalesions and those with alpha-fetoprotein (�FP) <100 ng/ml survived only ifransplanted.

Conclusions. The survival rate of hepatoblastoma managed by com-ined chemotherapy and surgery in the transplantation era is high. However,atients of older age, with a multifocal tumour, high PRETEXT, involve-ent of major liver vessels and �FP<100 ng/ml are less likely to be cured

y resection; these findings at presentation should lead to liase early with aransplantation centre to optimize the timing of the procedure.

oi:10.1016/j.dld.2007.07.103

P 41CUTE LIVER FAILURE FOLLOWING MEASLES VIRUS INFEC-ION

. Nobili a, S. Petrini c, R. Devito b, L. Lancella d, P. Stella d, C. Russo c,. Comparcola a, M.R. Sartorelli a, M. Marcellini a

Bambino Gesu’ Hospital, Liver Unit, ItalyPathology Department, ItalyLaboratory Department, Italy

Measles is usually a benign self-limiting disease in children. Rareomplications include pneumonia, encephalitis, myocarditis, ileocolitis.epatic involvement is frequent but is thought not to lead to liver fail-