No abstract

WD presents with a variety of neurological signs. The mutation p.H1069Q is not uniformly associated with late onset and neurological presentation. Frameshift and nonsense mutations lead to severe phenotype. There are ethnic-specific differences in disease manifestation.

No abstract

Concomitant occurrence of celiac disease (CeD) and Crohn's disease (CD) is rare and has been reported in several case reports and series. We report a case of a 63-year-old man with proximal CD, CeD and selective immunoglobulin (Ig) A deficiency (SIgAD). The patient was admitted in our Clinic for evaluation of epigastric pain, nausea, vomiting and weight loss (up to 7 kg) appeared in the last 3 months. The imaging findings from abdominal ultrasound and CT enterography raised suspicion of a lymphoproliferative disease of the jejunum. To exclude the development of lymphoma based on long standing untreated atypical CeD, upper endoscopy with biopsies and serological tests were conducted, showing and subtotal villous atrophy and elevated levels of IgG tissue transglutaminase tTG. Histopathology documented CD (A3,L4,B2 according to Montreal's classification).

Autoimmune hepatitis (AIH) is progressive, chronic immunologically mediated inflammatory liver disorder that occurs in children and adults of all ages, predominantly in women. AIH can be combined with other autoimmune and non-autoimmune conditions. We present a case of a 32 year-old female with three relatively uncommon diseases -two autoimmune diseases and one inherited, making their combination even more rare.