Isolated liver disease in a patient with DeltaF508/12TG-5T/M470V: A new face of an old disease

Abstract

s / Digestive and Liver Disease 46 (2014) e85–e127 e103 were reviewed and divided into 2 groups according to the presence of symptoms at diagnosis. Results: The symptomatic group included 17 patients presentingwithabdominalpain (6), jaundice (6), emesis (5), pale stools (2) and/or inconsolable crying (1). 27 patients were asymptomatic with gallstones evidence on occasional ultrasound examinations (15) or with nonspecific abdominal pain (12). Elevated aminotransferases and/or glutamyltransferase levels were recorded respectively in 6 and 5 of the symptomatic patients and in 9 and 8 of asymptomatic. Bilirubin levels were increased in 8 symptomatic patients and 6 asymptomatic ones. Positive family history was present in 6 and 8 of the symptomatic and asymptomatic patients. In the symptomatic group cholelitiasis was associated with haemolytic disease (6, p<0.01), obesity (4, p<0.05) and hepatobiliary disease (1) whereas in asymptomatic patients associated conditions were hepatobiliary diseases (7), hypercholesterolemia (2) total parental nutrition (2) and obesity (1). In 7 symptomatic patients, and17asymptomaticpatients cholelitiasiswas idiopathic. Complications occurred only in symptomatic patients (3 pancreatitis, 2 choledocolitiasis, p<0.01). Cholecistectomywas performed in 6 symptomatic patients and in 6 asymptomatic. http://dx.doi.org/10.1016/j.dld.2014.07.099 ISOLATED LIVER DISEASE IN A PATIENT WITH DELTAF508/12TG-5T/M470V: A NEW FACE OF AN OLD DISEASE Andrea Domenico Pratico ∗, Giovanna Di Dio, Novella Rotolo, Chiara Franzonello, Martina Filippelli, Elena Lionetti, Salvatore Leonardi Unit of Pediatric Pneumo-Allergology and Cystic Fibrosis, University of Catania, Catania, Italy Objective: We report a clinical case of a 15 years old boy with cystic fibrosis (CF) presenting as unique clinicalmanifestation hypertransaminasemia and hyperbilirubinemia. Methods: The patient presented a two years history of chronic hypertransaminasemia and jaundice. Blood tests showed hypertransaminasemia and hyperbilirubinemia. The most important infectious and metabolic causes of hypertransaminasemia were excluded. Abdominal ultrasound showed a slight increase in liver size and hyperechogenicity of the parenchyma. Liver biopsy was negative. Sweat chloride tests was performed in three times showing: Cl 72mEq/L, 47mEq/L, and 60mEq/L. Genetic first level investigation showed the presence of heterozygous mutation DeltaF508 and 5T polymorphism. Second and third level investigations confirmed the presence of the haplotype TG12-5T in one allele and DeltaF508 and TG11-9T plus the M470V polymorphism in the other. This genotype confirmed the diagnosis of CF. Bacteriological analysis of sputum, spirometry and chest X rays were normal. Fecal elastasys value was normal. The parents refused to sign the consent for a sperm count. Results: Therapy with ursodeoxycholic acid (15mg/kg/day) was started. After six months of therapy, transaminases values decreased to normal levels, and bilirubin level was further decreased. In our case, the presence of the mutation DeltaF508, 12TG-5T andM470V represents a never reported genotypic profile, with normal lung and pancreatic function and mild liver involvement. Conclusions: Although a clear genotype/phenotype correlation for liver disease in CF is still missing, this isolated clinical presentation could represent an unusual phenotype of CF possibly related to a complex genotype. http://dx.doi.org/10.1016/j.dld.2014.07.100 A PEDIATRIC CASE REPORT OF ACUTE INTERMITTENT PORPHYRIA: LEARNING THE LESSON Cristiano Rosafio1,∗, Patrizia Bergonzini2, Stefano Marchini3, Stefania Leoni2, Carlo Fusco4, Serena Colli 1, Antonello Pietrangelo5, Paolo Paolucci2, Paolo Ventura5, Lorenzo Lughetti 2 1 Scuola di Specialita’ di Pediatria, Azienda Ospedaliera Policlinico di Modena/Universita’ di Modena e Reggio Emilia, Modena, Italy 2 Dipartimento Materno Infantile, Azienda Ospedaliero Universitaria Policlinico di Modena, Modena, Italy 3 Ambulatorio delle Porfirie e dei Disturbi del Metabolismo degli Aminoacidi, Azienda Ospedaliero Universitaria Policlinico di Modena, Modena, Italy 4 Servizio di Neuropsichiatria Infantile, Arciospedale S.Maria Nuova, Reggio Emilia, Reggio Emilia, Italy 5 U.O. Medicina Interna, Azienda Ospedaliero Universitaria Policlinico di Modena, Modena, Italy Acute intermittent porphyria (AIP) is caused by a defect in porphobilinogen deaminase, a gene involved in the heme biosynthetic pathway. The porphyric attack is characterized by neurovisceral crisis. Such non-specific clinical manifestations lead to a potentially fatal delayed diagnosis. Although reported in literature, the AIP diagnosis is very rare before puberty. A 6-years-old boy presented with a 1-month history of poor food intake, behavioral regression, recurrent abdominal pain and a 2-weeks history of upper and lower arms weakness. On physical examination he was unable to manipulate objects, and showed a steppage gait with an hand and foot drop bilaterally present. The bioumoral, neuroradiological, autoimmune and infective investigations, were all negative. Electromyography showed a chronic axonal neuropathy of themedian and peroneal nerve bilaterally. The evaluation of total and fractionated urinary porphyrins was compatible with the AIP diagnosis, lately confirmed by genetic tests. The infusion of human haemin (3mg/kg) led to a dramatic clinical and biohumoral improvement, that currently persists. Abdominal pain, vomiting and tachycardia are the most common symptoms of AIP as, neurologically, seizures at the onset. Neuropathy involves themotor neuronwithweakness in the proximal muscles of the limbs. The diagnosis of AIP is unusual in a patient of 6 years-old; the clinical and the neurological onset, despite the presence of abdominal pain (a very common symptom in pediatric age), is very uncommon. In conclusion, diagnosis of AIP has to be considered also in children with unexplained neuropathy. http://dx.doi.org/10.1016/j.dld.2014.07.101