- Email: [email protected]
Fatty liver disease and abdominal pain with diarrhea hide hypobetalipoproteinemia
Abstracts / Digestive and Liver Disease 47S (2015) e237–e276
e255
S. Cardile ∗ , M. Candusso, B. Papadatou, D. Knafelz, F. Bracci, A. Pietrobattista, D. Liccardo, G. Torre
biopsy. A prompt remission of hemolytic anemia was observed, while liver disease required a combination treatment with prednisone, azathioprine, intravenous immunoglobulins and anti-CD20 monoclonal antibody. Liver enzymes decreased but did not normalize during a short period of observation of 4 months. The peculiarity of this case was the concomitant presence of multiple congenital anomalies that suggested Kabuki Syndrome (KS): distinctive facial features including arched eyebrows, prominent eyelashes, strabismus, lower eyelids that are turned outward, broadened tip of the nose, hypotonia and failure to thrive. The infant had also persistent left superior vena cava. Molecular analysis for KMT2D gene mutation is in progress. Although autoimmune abnormalities have been described in patients with KS, this is the first case of association with GCH with Coombs-positive hemolytic anemia.
U.O. di Epatologia, Gastroenterologia e Nutrizione, Osp. Pediatrico Bambino Gesù, Roma, Italy
http://dx.doi.org/10.1016/j.dld.2015.07.097
possible diversity within the household and suggest the usefulness of its monitoring and possible interventions. http://dx.doi.org/10.1016/j.dld.2015.07.095 P048 LACK OF EFFICACY OF INFLIXIMAB (IFX) IN THE TREATMENT OF PRIMARY SCLEROSING CHOLANGITIS (PSC) IN INFLAMMATORY BOWEL DISEASE (IBD) IN CHILDHOOD
The liver and biliary systems involvement represents a potential risk in IBD, and PSC is the entity most expressed with an incidence rate of 6.4–7.8% in children. The treatment of these patients is controversial and there are no pre-established therapeutic algorithms. Biologic drugs are widely used in the management of pediatric patients with IBD, but there are no studies on their effectiveness on the PSC associated. We conducted a retrospective study (January ‘01 to January ‘15), of our patients affected by IBD and PSC, considering the ones treated with IFX for their intestinal disease, in order to assess its clinic effectiveness in both, IBD and PCS. Of the 23 patients, 4 (17.4%, 3 M), all with ulcerative colitis (UC), were treated with IFX. Age at diagnosis of IBD was 7.21 ± 5.32 yrs. IFX was started after 5.72 yrs from the diagnosis of UC (range 0.54–9.92 yrs), or for cortico-dependence/resistance or for severe intestinal disease. The IFX was discontinued in all patients after 0:53 ± 0:20 months (VI–IV infusion); in 2 pts for poor control of the hepato-biliary disease (ALT Nx5.4, AST Nx4.3, GGT Nx9.8) with necessity to change therapy, in 1 pt for adverse reaction, and in 1 pt for relapse of severe intestinal disease that required colectomy, with evidence of lack of control of the hepato-biliary disease. Our limited experience shows that the use of IFX is not effective in the control of the PSC associated with IBD, not changing its clinical course and outcome. http://dx.doi.org/10.1016/j.dld.2015.07.096 P049 GIANT CELL HEPATITIS WITH COOMBS-POSITIVE HEMOLYTIC ANEMIA: POSSIBLE ASSOCIATION WITH KABUKI SYNDROME? F. Chiatto ∗ , G. Ranucci, F. Di Dato, V. Gallo, M.G. Puoti, M.I. Spagnuolo, R. Iorio Dip. di Scienze Mediche Traslazionali, Sez. di Pediatria, University Federico II, Napoli, Italy A 7-month-old infant presented with acute hemolytic anemia characterized by severe pallor, hepatosplenomegaly, hemoglobin 4.6 g/dl, total bilirubin 4.02 mg/dl (unconjugated 2.29), positive direct Coombs’ test. The child received erythrocytes transfusion and therapy with high-dose of steroids, first intravenously and then orally. Laboratory showed also: AST 1088 U/l, ALT 1176 U/l, GGT 155 U/l, conjugated bilirubin 1.83 mg/dl, LDH 2429 U/l, INR 1. Serological tests for HAV, HBV, HCV, EBV, CMV, HSV, Parvovirus B19, HIV were negative. The patient was negative for anti-nuclear, anti-smooth muscle, anti-liver kidney microsomes type 1, antiliver cytosol 2 autoantibodies. Serological tests for celiac disease were negative. The association of autoimmune hemolytic anemia and hepatitis suggested diagnosis of Giant Cell Hepatitis (GCH) with Coombs-positive hemolytic anemia. GCH was confirmed by liver
P050 FATTY LIVER DISEASE AND ABDOMINAL PAIN WITH DIARRHEA HIDE HYPOBETALIPOPROTEINEMIA F. Graziano ∗ , I. Iannelli U.O.C. di Pediatria Osp. di Villa D’agri, Italy A patient male, 9 years old, comes to our attention to diarrhea, abdominal pain and vomiting arised about from 5 days. This symptomatology often appeared in last years and a diagnosis of celiac disease has been hypothesized and he was found a flac lactose tolerance test, with negative results. Our examination showed: pale, hypo elastic skin, haloed eyes, adipose tissue poorly represented. Acute gastroenteritis was suspected and infusion therapy rehydrating is started. The results of our investigations showed hypocholesterolemia and steatorrhoea. Abdominal ultrasound showed increased liver size and steatosis. A thin male with steatosis and low density lipoprotein cholesterol lead us to suspect a diagnosis of hypobetalipoproteinaemia as confirmed by low apolipoprotein B. HBL (hypobetalipoproteinemia) represents an heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population In our case report we incidentally found fatty liver (there were no elevated liver transaminases levels) and the diagnosis was made on the basis of characteristic lid profiles. Our patient did not present progressive neurologic degenerative disease and retinitis pigmentosa. Heterozygotes patients almost are almost always asymptomatic, but in several studies, it has been linked with fatty liver disease. http://dx.doi.org/10.1016/j.dld.2015.07.098 P051 COEXISTENCE OF INFLAMMATORY BOWEL DISEASE (IBD) AND PRIMARY SCLEROSING CHOLANGITIS (PSC) IN CHILDREN: A CLINICAL AND PATHOGENETIC INTRIGUED MODEL S. Cardile ∗ , M. Candusso, B. Papadatou, D. Knafelz, F. Bracci, A. Pietrobattista, D. Liccardo, G. Torre U.O. di Epatologia, Gastroenterologia e Nutrizione, Osp. Pediatrico Bambino Gesù, Roma, Italy The PSC is one of the most common extraintestinal manifestations (EIM) in IBD, and burdened by high morbidity. Pediatric
e255
S. Cardile ∗ , M. Candusso, B. Papadatou, D. Knafelz, F. Bracci, A. Pietrobattista, D. Liccardo, G. Torre
biopsy. A prompt remission of hemolytic anemia was observed, while liver disease required a combination treatment with prednisone, azathioprine, intravenous immunoglobulins and anti-CD20 monoclonal antibody. Liver enzymes decreased but did not normalize during a short period of observation of 4 months. The peculiarity of this case was the concomitant presence of multiple congenital anomalies that suggested Kabuki Syndrome (KS): distinctive facial features including arched eyebrows, prominent eyelashes, strabismus, lower eyelids that are turned outward, broadened tip of the nose, hypotonia and failure to thrive. The infant had also persistent left superior vena cava. Molecular analysis for KMT2D gene mutation is in progress. Although autoimmune abnormalities have been described in patients with KS, this is the first case of association with GCH with Coombs-positive hemolytic anemia.
U.O. di Epatologia, Gastroenterologia e Nutrizione, Osp. Pediatrico Bambino Gesù, Roma, Italy
http://dx.doi.org/10.1016/j.dld.2015.07.097
possible diversity within the household and suggest the usefulness of its monitoring and possible interventions. http://dx.doi.org/10.1016/j.dld.2015.07.095 P048 LACK OF EFFICACY OF INFLIXIMAB (IFX) IN THE TREATMENT OF PRIMARY SCLEROSING CHOLANGITIS (PSC) IN INFLAMMATORY BOWEL DISEASE (IBD) IN CHILDHOOD
The liver and biliary systems involvement represents a potential risk in IBD, and PSC is the entity most expressed with an incidence rate of 6.4–7.8% in children. The treatment of these patients is controversial and there are no pre-established therapeutic algorithms. Biologic drugs are widely used in the management of pediatric patients with IBD, but there are no studies on their effectiveness on the PSC associated. We conducted a retrospective study (January ‘01 to January ‘15), of our patients affected by IBD and PSC, considering the ones treated with IFX for their intestinal disease, in order to assess its clinic effectiveness in both, IBD and PCS. Of the 23 patients, 4 (17.4%, 3 M), all with ulcerative colitis (UC), were treated with IFX. Age at diagnosis of IBD was 7.21 ± 5.32 yrs. IFX was started after 5.72 yrs from the diagnosis of UC (range 0.54–9.92 yrs), or for cortico-dependence/resistance or for severe intestinal disease. The IFX was discontinued in all patients after 0:53 ± 0:20 months (VI–IV infusion); in 2 pts for poor control of the hepato-biliary disease (ALT Nx5.4, AST Nx4.3, GGT Nx9.8) with necessity to change therapy, in 1 pt for adverse reaction, and in 1 pt for relapse of severe intestinal disease that required colectomy, with evidence of lack of control of the hepato-biliary disease. Our limited experience shows that the use of IFX is not effective in the control of the PSC associated with IBD, not changing its clinical course and outcome. http://dx.doi.org/10.1016/j.dld.2015.07.096 P049 GIANT CELL HEPATITIS WITH COOMBS-POSITIVE HEMOLYTIC ANEMIA: POSSIBLE ASSOCIATION WITH KABUKI SYNDROME? F. Chiatto ∗ , G. Ranucci, F. Di Dato, V. Gallo, M.G. Puoti, M.I. Spagnuolo, R. Iorio Dip. di Scienze Mediche Traslazionali, Sez. di Pediatria, University Federico II, Napoli, Italy A 7-month-old infant presented with acute hemolytic anemia characterized by severe pallor, hepatosplenomegaly, hemoglobin 4.6 g/dl, total bilirubin 4.02 mg/dl (unconjugated 2.29), positive direct Coombs’ test. The child received erythrocytes transfusion and therapy with high-dose of steroids, first intravenously and then orally. Laboratory showed also: AST 1088 U/l, ALT 1176 U/l, GGT 155 U/l, conjugated bilirubin 1.83 mg/dl, LDH 2429 U/l, INR 1. Serological tests for HAV, HBV, HCV, EBV, CMV, HSV, Parvovirus B19, HIV were negative. The patient was negative for anti-nuclear, anti-smooth muscle, anti-liver kidney microsomes type 1, antiliver cytosol 2 autoantibodies. Serological tests for celiac disease were negative. The association of autoimmune hemolytic anemia and hepatitis suggested diagnosis of Giant Cell Hepatitis (GCH) with Coombs-positive hemolytic anemia. GCH was confirmed by liver
P050 FATTY LIVER DISEASE AND ABDOMINAL PAIN WITH DIARRHEA HIDE HYPOBETALIPOPROTEINEMIA F. Graziano ∗ , I. Iannelli U.O.C. di Pediatria Osp. di Villa D’agri, Italy A patient male, 9 years old, comes to our attention to diarrhea, abdominal pain and vomiting arised about from 5 days. This symptomatology often appeared in last years and a diagnosis of celiac disease has been hypothesized and he was found a flac lactose tolerance test, with negative results. Our examination showed: pale, hypo elastic skin, haloed eyes, adipose tissue poorly represented. Acute gastroenteritis was suspected and infusion therapy rehydrating is started. The results of our investigations showed hypocholesterolemia and steatorrhoea. Abdominal ultrasound showed increased liver size and steatosis. A thin male with steatosis and low density lipoprotein cholesterol lead us to suspect a diagnosis of hypobetalipoproteinaemia as confirmed by low apolipoprotein B. HBL (hypobetalipoproteinemia) represents an heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population In our case report we incidentally found fatty liver (there were no elevated liver transaminases levels) and the diagnosis was made on the basis of characteristic lid profiles. Our patient did not present progressive neurologic degenerative disease and retinitis pigmentosa. Heterozygotes patients almost are almost always asymptomatic, but in several studies, it has been linked with fatty liver disease. http://dx.doi.org/10.1016/j.dld.2015.07.098 P051 COEXISTENCE OF INFLAMMATORY BOWEL DISEASE (IBD) AND PRIMARY SCLEROSING CHOLANGITIS (PSC) IN CHILDREN: A CLINICAL AND PATHOGENETIC INTRIGUED MODEL S. Cardile ∗ , M. Candusso, B. Papadatou, D. Knafelz, F. Bracci, A. Pietrobattista, D. Liccardo, G. Torre U.O. di Epatologia, Gastroenterologia e Nutrizione, Osp. Pediatrico Bambino Gesù, Roma, Italy The PSC is one of the most common extraintestinal manifestations (EIM) in IBD, and burdened by high morbidity. Pediatric