Search

Background Autoimmune liver disease (AILD) includes autoimmune hepatitis (AIH) and autoimmune sclerosing cholangitis (ASC). AILD is often associated with other extra-hepatic immune-mediated disorders (EDs), but there are few pediatric studies available to date. In this study we evaluated the association between AILD and EDs in our pediatric series. Methods In this single centre retrospective study 48 patients (39 AIH and 9 ASC children) were evaluated. Thirty-six children were primarily referred to our Centre for liver disease suspicion, while the remaining twelve had a previous diagnosis of EDs. All the patients were screened for various EDs at AILD diagnosis and yearly during the follow-up. Results Mean duration of follow-up was 9 years and 1 month. Twenty-two (46%) patients had a diagnosis of EDs. Ulcerative colitis (UC) was the most frequent EDs (9 patients), followed by autoimmune thyroid disease (5 patients) and celiac disease (5 patients). In 7 out of 9 UC patients, ASC was present. Conclusions Our study showed a high association (46%) between AILD and EDs. In particular, in 8 out of 9 ASC patients UC was diagnosed (p-value 0.007). It is important to look for EDs in AILD children and, conversely, AILD in EDs children with abnormal liver function tests.

Introduction Posterior reversible encephalopathy syndrome (PRES) with status epilepticus may occur after liver transplant. This may rarely lead to refractory epilepsy and hippocampal sclerosis (HS). Case description We report the first case of epilepsy surgery in a liver-transplanted patient with refractory temporal lobe epilepsy. A 3-year-old girl underwent liver transplant for congenital biliary atresia. Four days after transplant she manifested PRES with status epilepticus, but she recovered within a couple of weeks. At the age of 5 years she started presenting complex partial seizures, that became refractory to antiepileptic drugs (AED), worsening psychosocial performances. The pre-surgical work-up identified a left HS and temporal pole alterations. A left antero-mesial temporal lobectomy was performed, leading to epilepsy remission and allowing AED withdrawal. Conclusion Drug-resistant temporal lobe epilepsy and HS may occur as sequelae of PRES with status epilepticus related to liver transplant and cyclosporine use. In this setting early epilepsy surgery may reduce the time of chronic exposure to AED and severe illness due to repeated seizures. This option might have additional advantages in the subgroup of epileptic patients with liver transplant, preserving the liver from the potential damage due to multiple AED trials and their interaction with commonly used immunosuppressant drugs.

We describe a case of nephrotic syndrome (NS) after a 7 months treatment with D-penicillamine in a 14 years old girl with Wilson’s disease , with a prompt regression at the discontinuation of the drug. Kidney function, proteinuria in particular, must be always monitored during the chelating therapy, and the drug must be discontinued as soon as signs of renal injury are detected.

and umbilical venous catheter (UVC) placement, neonatal illnesses, type of presentation, results on pro-thrombotic screening and features at the last follow up. Results: We collected data on 187 patients from 9 centres; 46% were female, mean age at diagnosis was 3.8 years (SD 3.7). The neonatal associated factors were: presence of prematurity in 102/172 (59%), neonatal illnesses 70/132 (53%), history of UVC 107/165 (65%), congenital malformations 26/132 (19%), deep infections 11/132 (5%). The type of presentation was: detection of splenomegaly in 68 (39.5%), GI bleeding in 63 (37%), hypersplenism in 9 (5.2%), incidental in 32/172 patients (18%); 87% had oesophageal varices. Pro-thrombotic screening was positive in 30/76 (39.4%). After a follow up of 11.2 years (SD 4.8) 66% had been managed conservatively, 34% underwent surgery or TIPS. On univariate analysis a huge splenomegaly, GI bleeding and severe hypersplenism were predictors of surgery or TIPS (p