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

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  • Abstracts / Digestive and Liver Disease 39 (2007) A49A87 A69

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

    Conclusions. There is no conclusive evidence about the effectivenessof the currentin this patienchildren affec

    doi:10.1016/jPP 39A CASE OFDEFICIENC

    C. Amoruso aM.T. Dotti b,a Istituto di PMangiagalli eb Dipartimentdegli Studi dic Dipartimentd DipartimentOspedale San

    Cerebroteerror of primhydroxysteroiin plasma, urtraced to a mucataract, tendhood (over 20patients are venia have beensevere jaundicthis is the firs

    A femalehypocholic sttransferases awithin normation were coaetiologies ofobstructions,dromes, mostplasma and ursubstances, plogic, skeletaultrasonograpalteration of inwere found in

    Liver biopcellular and ihepatocellula

    Biliary acprophile comp

    Cholestan(n.v. 470g/ddeletion of 1.9described in C

    Therapy wwith chenode


    After havinfocus on ra

    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 neurologicimpairmen



    ntiga acan a, P

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    ed OLTyear suocalityIII or Iava (p =er age (s and thlanted.nclusio

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    easles iicationsic involmedical treatment for NH. The favourable outcome describedt suggests that EXT could be a feasible treatment option forted by NH, as it is for other alloimmune conditions.



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

    ediatria,Fondazione IRCCS Ospedale Maggiore Policlinico,Regina Elena, Milan, Italy

    o di Scienze Neurologiche e del Comportamento-Universita`Siena, Italyo di Pediatria-Universita` degli Studi di Padova, Italyo di Medicina Sperimentale-Universita` di Milano-Bicocca,tAntonio Abate-Gallarate, Itlay

    ndineous xanthomatosis (CX) is an autosomal recessive inbornary biliary acids synthesis. The deficiency of 3-5-C27-d dehydrogenase is responsible of accumulation of cholestanoline and tissues in affected individuals; the disorder has beentation of the CYP27A1 gene. Most cases present with juvenileon xanthomas and a progressive neurologic disorder in adult-years of age). About 200 cases have been reported; paediatricry rare: neonatal cholestasis, steathorroea, diarrhoea, osteope-described. We report a case of CX in an infant presenting withe and increase of plasma aminotransferases. In our knowledge,

    t Italian case described in paediatric age.infant of 74 days of age presented slight hepatosplenomegaly,ools and a biochemical picture of moderate increase of amino-nd severe conjugated hyperbilirubinaemia, with gamma-GTl values. Other cholestasis indexes and hepatic synthetic func-mpletely in the normal range. We excluded most frequent

    neonatal and infant cholestasis: extrahepatic biliary tractinfectious agents, alpha1-antitrypsin deficiency, CDG syn-frequent other metabolic diseases (normal ammonia, lactate,ine amino acids, urine organic acids, sweat test, urine reducinglasma biliary acids), endocrinopathies. Neurologic, cardio-l and ophthalmic evaluations were all normal. Abdominalhy revealed only slightly brilliant liver, without any significanttrahepatic or extrahepatic biliary tract. No other abnormalitiesany other abdominal organ.sy was performed and revealed giant cell hepatitis with intra-ntracanalicular cholestasis, inflammatory changes and focalr necrosis.ids were performed in urine by mass spectrometry revealing aatible with a diagnosis of CX.

    ol dosage, performed by mass-spectrometry, was 3.140g/dll). Molecular genetic analysis revealed a homozygosis for akb in the CYP27A gene, responsible of the enzymatic defectX.ith UDCA, early undertaken in this child, was rapidly changed

    oxycholyc acid when the diagnosis was achieved.is completely regressed within the 6-month of life.n. In front of a case of neonatal cholestasis:

    g excluded the most frequent etiologies, we recommend tore inborn error of metabolism of biliary acids.


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    , F. Vallortigara a, U. Cillo b, E. Talenti c, M. Rugge d,. DallIgna e, G.L. De Salvo f, G. Perilongo a

    of Paediatrics, University of Padova, Italyof Surgery and Gastroenterological Sciences, University of

    adiology, University of Padova, Italyof Oncological and Surgical Sciences, University of Padova,

    of Paediatric Surgery, University of Padova, Italyls andBiostatisticsUnit IstitutoOncologicoVeneto,Universityly

    nd. Approximately 20% of cases of hepatoblastoma (HB)ctable after preoperative chemotherapy (PC). In these patientstation (LT) should be performed 1 month after PC. However,ation and organ availability often lead to spend longer timelist. We aimed to find presenting features that predict unre-

    provide suggestions for early referral and listing for LT inhepatoblastoma.Notes, radiology films and histology of patients managed inrs were reviewed. Unfeasible resection was defined by bilobarvascular extension or metastatic disease after PC. Failed con-ment (FCT) refers to cases that are not disease-free with theirter at least 1 year from surgery.e studied 28 patients, of whom 14 had a resection whereas 10

    . Four had no surgery because of tumour progression. Overallrvival is 76% (95% CI: 54.889.0). Predictors of FCT were(p = 0.006), high pre-treatment extent of tumour score (PRE-V) (p = 0.006), portal vein (p = 0.02), hepatic vein (p = 0.02) or

    0.05) involvement. Patients cured by resection presented at amedian of 0.7 vs. 4.2 years; p = 0.02). Patients with multifocalose with alpha-fetoprotein (FP)


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