Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report.

Jacobsen syndrome is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The typical clinical manifestations include physical growth retardation, mental retardation,facial dysmorphisms, congenital heart disease, thrombocytopenia, or pancytopenia. A Thai-Australian girl was born with multiple abnormalities. Typical features and her karyotype, 46, XX, del(ll) (q23-qter), confirmed Jacobson syndrome. She had many uncommon findings including upslanting palpebral fissures, tortuousity of retinal vessels and hypogammaglobulinemia. In addition, this case also presented with protein C deficiency, which has not been reported previously in Jacobsen syndrome. The patient was treated with phototherapy, intravenous antibiotic injection, and platelet transfusion in neonatal period. Cranioplasty was performed for prevention of the increased intracranial pressure at three months of age. Surgical correction for strabismus was in the treatment plan.

A lactogenic-immune-deficiency-syndrome in cows: unexplained phenomenon.

The majority of adult cows in a certain dairy herd, were found to have very low levels of immunoglobulins (Igs) in their colostrum. This phenomenon was defined by us as Lactogenic-Immune-Deficiency-Syndrome (LIDS). The mean IgG levels were 44.5 and 57.2 mg ml-1 respectively (on two different occasions) as compared to that of a control group which was 103.4 mg ml-1. The levels of Igs in the colostra of heifers from the same herd were found to be higher than those of adult cows. The degree of LIDS was found to be closely related to the age of cows in the herd. The low levels of Igs in the colostra were not directly linked to their concentrations in the sera of the affected cows. The relatively low amount of IgA in the affected colostra suggests that the local production in the lymph tissue associated with the mammary glands is impaired as well. In order to investigate the etiology of the phenomenon, tests were carried out to reveal whether bovine leucosis virus (BLV) infection or immune complexes were involved in the pathogenesis of LIDS. The results were negative. The etiology of LIDS remains for the time being unknown.

Rhabdomyolysis after intramuscular iron-dextran in malabsorption.

The case of a 59 year old white man who had chronic malabsorption and selective IgA deficiency with severe iron deficiency is reported. In addition, he was deficient in vitamin E and selenium, important antioxidants which protect against lipid peroxidation. He was intolerant of oral iron and when treated with iron-dextran developed symptoms suggestive of polymyositis with evidence of rhabdomyolysis. It is suggested that free iron within iron-dextran activated free radicals, initiating lipid peroxidation and leading to polymyositis, rhabdomyolysis, and myoglobulinuria.

Nodular lymphoid hyperplasia of the colon associated with dysgammaglobulinemia.

A case of dysgammaglobulinemia associated with nodular lymphoid hyperplasia of the colon is reported. The patient had typical immunoglobulin deficiency, diarrhea, recurrent respiratory infections, Giardia lamblia in the stool, and lymphoid hyperplasia of the small intestine. His barium enema showed diffuse submucosal nodules. Rectosigmoid biopsy confirmed nodular lymphoid hyperplasia. The similar findings on barium enema in this entity and in lymphosarcoma are stressed.

Deficiency of secretory Ig-A and intestinal malabsorption.

A patient under treatment with hemodialysis suffered increasing clinical and laboratory evidence of intestinal malabsorption. Jejunal aspirates revealed heavy bacterial and mycotic flora within the proximal jejunum. Secretory Ig-A and secretory component were present only in trace amounts. The deficiency of the generally ubiquitous secretory component is particularaly striking. Oral administration of 20-30 ml. colostrum daily reversed not only the clinical evidence but also laboratory findings of intestinal malabsorption.

Selective immunoglobulin a deficiency, ulcerative colitis, and gluten-sensitive enteropathy--a unique association.

A patient with selective immunoglobulin A deficiency, severe ulcerative colitis, and malabsorption had a flat jejunal mucosa demonstrated by peroral biopsy. Treatment at different times with a gluten-free diet for the jejunal lesion and corticosteroids for the ulcerative colitis, led to improvement of the malabsorption. A repeat jejunal biopsy demonstrated histological improvement of the jejunal mucosa, even though the colitis remained active. The occurrence of immunoglobulin A deficiency in a patient with ulcerative colitis and gluten-sensitive enteropathy is uncommon.