Recurrent Gallbladder Hydrops and Sclerosing Cholangitis in 11-Year-Old Male with Hyper IgM Syndrome

Hyper Immunoglobulin M (hyper IgM) is a rare immunodeficiency disorder first reported in 1961[1], characterized by recurrent infections with low levels of serum IgA, IgG and IgE and normal to high levels of serum IgM[1]. Onset of manifestation of X-linked HIGM occurs in the 1st or 2nd year of life with recurrent pyogenic infections especially of upper and lower respiratory tract and diarrhea in 40% of the patients[1] . Cryptosporidium infections are a common cause of diarrhea in these patients complicated with hepatobiliary disease, which is severe and often fatal[1]. Gallbladder hydrops occurs in acutely severe ill children with inflammatory or non inflammatory conditions[2] . Treatment is based on correction of immunity by immunoglobulin replacement and aggressive antimicrobial therapy. Infections, liver disease and malignancy are common causes of mortality, therefore, stem cell transplantation is necessary to increase the survival rate up to 68%[3] .