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Pay attention to neonatal jaundice
Abstracts / Digestive and Liver Disease 48S (2016) e241–e281
P36 DRUG RASH WITH EOSINOPHILIA AND SYSTEMIC SYNDROME (DRESS)/HEMOFAGOCYTIC LYMPHOHISTOCYTOSIS (HLH) OVERLAP IN A CHILD WITH ACUTE LIVER FAILURE PRESENTATION C. Mandato 1,∗ , O. Ametrano 1 , M. Lamba 1 , P. Quitadamo 1 , C. De Fusco 2 , P. Vajro 3 , P. Siani 1 1
Dipartimento di Pediatria, AORN Santobono-Pausilipon, Napoli, Italy 2 Dipartimento di Oncoematologia Pediatrica, AORN Santobono-Pausilipon, Napoli, Italy 3 Pediatria, Dipartimento di Medicina, Chirurgia e Odontoiatria “Scuola Medica Salernitana” – Baronissi (SA), Italy Background: DRESS is a potentially life-threatening condition. Liver damage is a frequent component and may progress to acute liver failure. Here we describe a case with hyperferritinemia, hypertriglyceridemia and increased LDH levels. These parameters which may be elevated in adult DRESS patients and have rarely been reported in children overlap with HLH customary features as well. Case report: CA, male 11 yo, was admitted to another hospital for rash, fever, and hypertransaminasemia (X5 UNV). 3 weeks before he had been prescribed valproate for seizure and abnormal EEG. At entry to our pediatric department he showed compromised general conditions, hypotension, fever, generalized rash, lymphoadenomegaly, hepatosplenomegaly, ascites. Laboratory data indicated hypereosinophilia (3150 mcl), AST/ALT X20UNV, LDH 1807U/L, CRP 178 mg/L, Ferritin 3131 ng/ml, triglycerides 273 mg/dl, INR 1.7, fibrinogen 108 mg/dl, low CD19+ lymphocyte, absent/low perforin (normal perforin genes analysis). Bone marrow aspirate evidenced activated lymphocytes. Based on 5/8 diagnostic criteria, HLH was suspected. Moreover also DRESS was suspected based on RegiSCAR’s scoring system and dermatologic evaluation (perivascular CD3 + lymphocytes and histiocytes infiltrates on skin biopsy). Prednisone (2 mg/Kg/day) was prescribed with improvement of all parameters. After treatment discontinuation, patient relapsed. Prednisone re-induced remission, with persistently mild ALT elevation after 1 month therapy. Conclusion: Our case indicates that in spite of specific scoring systems differential diagnosis between DRESS and HLH in children with acute liver failure may be challenging due to possible overlap of several clinical/lab features. This is of concern because of different therapeutic approach. http://dx.doi.org/10.1016/j.dld.2016.08.037 P37 PAY ATTENTION TO NEONATAL JAUNDICE C. Spagnoli 1,∗ , V. Albano 1 , G. Cobellis 2 , E. Lionetti 1 , S. Gatti 1 , C. Catassi 1 1
U.O.C. di Clinica Pediatrica, Università Politecnica delle Marche, Azienda Ospedaliero Universitaria di Ancona, Italy 2 S.O.D. di Chirurgia Pediatrica, Università Politecnica delle Marche, Azienda Ospedaliero Universitaria di Ancona, Italy Background: Congenital biliary atresia (BA) is a rare condition characterized by dysgenesis of the bile ducts. If untreated, BA leads to liver cirrhosis and premature death. The diagnosis is a clinical challenge, depending on a high clinical suspicion, especially in early
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weeks of life. Cytomegalovirus (CMV) associated BA is a subgroup, with a diminished response to Kasai portoenterostomy. Case description: A 2-months-old Chinese girl presented to our hospital with jaundice despite satisfactory growth. Her past medical history was remarkable for the onset of jaundice in the second day of life that never required phototherapy. Laboratory findings showed conjugated bilirubin 4.57 mg/dl, alanine aminotransferase 200 U/L and ␥-glutamyl transferase 471 U/L; ␣1antitrypsin, plasma and urinary aminoacids, urine organic acids, immunoreactive trypsin and thyroid screen was normal. CMV IgM were positive as well as serum CMV DNA (2000 copies/ml). CMV copies were absent in the Guthrie card. Abdominal ultrasound showed a contracted gallbladder and at the biopsy the liver appeared with fibrosis, ductular proliferation and intraluminal biliary thrombosis. The diagnosis of CMVIgM+ BA was made and the hepatoportoenterostomy was performed at 97th days of life. Two months after Kasai operation conjugated bilirubin was less than 1 mg/dl, but she presented itching and had three episodes of severe cholangitis so she was finally placed on the list for liver transplantation. You have to think of BA in the differential diagnosis of neonatal jaundice because the earlier is the hepatoportoenterostomy performed, the better is the prognosis. Concomitant CMV infection influences the prognosis of BA. http://dx.doi.org/10.1016/j.dld.2016.08.038 P38 EXTRA-HEPATIC AUTOIMMUNE DISEASES IN AUTOIMMUNE HEPATITIS G. Paolella ∗ , M. Farallo, I. Degrassi, F. Nuti, G. Nebbia Servizio di Epatologia Pediatrica – UOC Pediatria a Media Intensità di Cura, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy Introduction: Autoimmune hepatitis (AIH) is a chronic and progressive inflammatory liver disease. AIH is often associated with extra-hepatic autoimmune diseases (EADs) which can precede, be concomitant, or follow liver involvement. In this study we aimed to assess EADs frequency in AIH patients. Methods: A retrospective evaluation of 43 AIH children referred to our Pediatric Liver Center (age range at diagnosis: 3–16 years, median age: 9 years 6 months) was carried out in search for associated EADs. The mean duration of follow-up was 8 years 8 months (range: 3 years 4 months–23 years). All patients were screened for other autoimmune diseases. Some children with already diagnosed EADs were referred to us from other highly specialized pediatric centres when abnormal liver function tests (LFTs) were observed. Results: EADs were found in 21 out of 43 patients (48.8%). Ulcerative colitis was the most frequent EAD (9/21 patients), mainly diagnosed in children with autoimmune sclerosing cholangitis. The remaining EADs were: 5 autoimmune thyroid disease, 4 celiac disease, 3 autoimmune skin disease, 3 rheumatoid arthritis, 2 lupus erythematosus, 1 autoimmune thrombocytopenia and 1 type-1 diabetes. Six out of 21 patients presented more than one EAD. Conclusion: The association between AIH and EADs has been reported in several studies in adults, whereas data on pediatric patients are scanty. Our results showed high frequency of EADs in AIH children, emphasizing the importance to look for EADs in AIH patients and, on the other hand, to search for AIH in children affected by EADs with abnormal LFTs. http://dx.doi.org/10.1016/j.dld.2016.08.039
P36 DRUG RASH WITH EOSINOPHILIA AND SYSTEMIC SYNDROME (DRESS)/HEMOFAGOCYTIC LYMPHOHISTOCYTOSIS (HLH) OVERLAP IN A CHILD WITH ACUTE LIVER FAILURE PRESENTATION C. Mandato 1,∗ , O. Ametrano 1 , M. Lamba 1 , P. Quitadamo 1 , C. De Fusco 2 , P. Vajro 3 , P. Siani 1 1
Dipartimento di Pediatria, AORN Santobono-Pausilipon, Napoli, Italy 2 Dipartimento di Oncoematologia Pediatrica, AORN Santobono-Pausilipon, Napoli, Italy 3 Pediatria, Dipartimento di Medicina, Chirurgia e Odontoiatria “Scuola Medica Salernitana” – Baronissi (SA), Italy Background: DRESS is a potentially life-threatening condition. Liver damage is a frequent component and may progress to acute liver failure. Here we describe a case with hyperferritinemia, hypertriglyceridemia and increased LDH levels. These parameters which may be elevated in adult DRESS patients and have rarely been reported in children overlap with HLH customary features as well. Case report: CA, male 11 yo, was admitted to another hospital for rash, fever, and hypertransaminasemia (X5 UNV). 3 weeks before he had been prescribed valproate for seizure and abnormal EEG. At entry to our pediatric department he showed compromised general conditions, hypotension, fever, generalized rash, lymphoadenomegaly, hepatosplenomegaly, ascites. Laboratory data indicated hypereosinophilia (3150 mcl), AST/ALT X20UNV, LDH 1807U/L, CRP 178 mg/L, Ferritin 3131 ng/ml, triglycerides 273 mg/dl, INR 1.7, fibrinogen 108 mg/dl, low CD19+ lymphocyte, absent/low perforin (normal perforin genes analysis). Bone marrow aspirate evidenced activated lymphocytes. Based on 5/8 diagnostic criteria, HLH was suspected. Moreover also DRESS was suspected based on RegiSCAR’s scoring system and dermatologic evaluation (perivascular CD3 + lymphocytes and histiocytes infiltrates on skin biopsy). Prednisone (2 mg/Kg/day) was prescribed with improvement of all parameters. After treatment discontinuation, patient relapsed. Prednisone re-induced remission, with persistently mild ALT elevation after 1 month therapy. Conclusion: Our case indicates that in spite of specific scoring systems differential diagnosis between DRESS and HLH in children with acute liver failure may be challenging due to possible overlap of several clinical/lab features. This is of concern because of different therapeutic approach. http://dx.doi.org/10.1016/j.dld.2016.08.037 P37 PAY ATTENTION TO NEONATAL JAUNDICE C. Spagnoli 1,∗ , V. Albano 1 , G. Cobellis 2 , E. Lionetti 1 , S. Gatti 1 , C. Catassi 1 1
U.O.C. di Clinica Pediatrica, Università Politecnica delle Marche, Azienda Ospedaliero Universitaria di Ancona, Italy 2 S.O.D. di Chirurgia Pediatrica, Università Politecnica delle Marche, Azienda Ospedaliero Universitaria di Ancona, Italy Background: Congenital biliary atresia (BA) is a rare condition characterized by dysgenesis of the bile ducts. If untreated, BA leads to liver cirrhosis and premature death. The diagnosis is a clinical challenge, depending on a high clinical suspicion, especially in early
e255
weeks of life. Cytomegalovirus (CMV) associated BA is a subgroup, with a diminished response to Kasai portoenterostomy. Case description: A 2-months-old Chinese girl presented to our hospital with jaundice despite satisfactory growth. Her past medical history was remarkable for the onset of jaundice in the second day of life that never required phototherapy. Laboratory findings showed conjugated bilirubin 4.57 mg/dl, alanine aminotransferase 200 U/L and ␥-glutamyl transferase 471 U/L; ␣1antitrypsin, plasma and urinary aminoacids, urine organic acids, immunoreactive trypsin and thyroid screen was normal. CMV IgM were positive as well as serum CMV DNA (2000 copies/ml). CMV copies were absent in the Guthrie card. Abdominal ultrasound showed a contracted gallbladder and at the biopsy the liver appeared with fibrosis, ductular proliferation and intraluminal biliary thrombosis. The diagnosis of CMVIgM+ BA was made and the hepatoportoenterostomy was performed at 97th days of life. Two months after Kasai operation conjugated bilirubin was less than 1 mg/dl, but she presented itching and had three episodes of severe cholangitis so she was finally placed on the list for liver transplantation. You have to think of BA in the differential diagnosis of neonatal jaundice because the earlier is the hepatoportoenterostomy performed, the better is the prognosis. Concomitant CMV infection influences the prognosis of BA. http://dx.doi.org/10.1016/j.dld.2016.08.038 P38 EXTRA-HEPATIC AUTOIMMUNE DISEASES IN AUTOIMMUNE HEPATITIS G. Paolella ∗ , M. Farallo, I. Degrassi, F. Nuti, G. Nebbia Servizio di Epatologia Pediatrica – UOC Pediatria a Media Intensità di Cura, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy Introduction: Autoimmune hepatitis (AIH) is a chronic and progressive inflammatory liver disease. AIH is often associated with extra-hepatic autoimmune diseases (EADs) which can precede, be concomitant, or follow liver involvement. In this study we aimed to assess EADs frequency in AIH patients. Methods: A retrospective evaluation of 43 AIH children referred to our Pediatric Liver Center (age range at diagnosis: 3–16 years, median age: 9 years 6 months) was carried out in search for associated EADs. The mean duration of follow-up was 8 years 8 months (range: 3 years 4 months–23 years). All patients were screened for other autoimmune diseases. Some children with already diagnosed EADs were referred to us from other highly specialized pediatric centres when abnormal liver function tests (LFTs) were observed. Results: EADs were found in 21 out of 43 patients (48.8%). Ulcerative colitis was the most frequent EAD (9/21 patients), mainly diagnosed in children with autoimmune sclerosing cholangitis. The remaining EADs were: 5 autoimmune thyroid disease, 4 celiac disease, 3 autoimmune skin disease, 3 rheumatoid arthritis, 2 lupus erythematosus, 1 autoimmune thrombocytopenia and 1 type-1 diabetes. Six out of 21 patients presented more than one EAD. Conclusion: The association between AIH and EADs has been reported in several studies in adults, whereas data on pediatric patients are scanty. Our results showed high frequency of EADs in AIH children, emphasizing the importance to look for EADs in AIH patients and, on the other hand, to search for AIH in children affected by EADs with abnormal LFTs. http://dx.doi.org/10.1016/j.dld.2016.08.039