| X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency. Delayed puberty in patients with X-linked agammaglobulinemia may result in delayed secretion of growth hormone (GH). To determine true isolated growth hormone deficiency. GH stimulation tests and other hypophyseal hormone evaluations must be performed. In this paper, we report a 15-year-old boy with X-linked agammaglobulinemia and isolated growth hormone deficiency, and review related literature. ( info) |
| The syndrome of inflammatory subacute lumbosacral polyradiculoneuropathy (SLP) has been reported in acquired immunodeficiency syndrome (AIDS) patients in association with cytomegalovirus infection and is only partially amenable to anti-viral therapy. We report three cases of relatively benign inflammatory painful SLP in two non-AIDS, immunosuppressed patients and one who hiv-seroconversed at the time of clinical presentation. SLP developed: (1) in association with hiv seroconversion; (2) during ECHO virus infection in a patient with common variable immune deficiency; and (3) after a severe systemic infection that induced transient immunosuppression due to Epstein-Barr virus reactivation. This report expands the spectrum of viruses associated with acute and subacute lumbosacral polyradiculoneuropathy and may shed light on its possible pathogenesis. ( info) |
3/553. liver transplantation for endstage hepatitis c cirrhosis in a patient with primary hypogammaglobulinaemia. liver transplantation was performed in a patient with primary hypogammaglobulinaemia, chronic hepatitis c and hepatic failure. The immediate posttransplant period was uncomplicated. Owing to a stricture of the choledochojejunostomy the patient was reoperated with construction of a hepaticojejunostomy 11 months posttransplant. The patient remained hepatitis c virus (HCV) rna-positive, with high and increasing levels of HCV. Liver biopsies demonstrated the recurrence of HCV. 14 months after the transplantation the patient developed severe diarrhoea caused by cryptosporidium parvum. The infection did not respond to available therapeutic measures. He deteriorated with development of liver failure and died 18 months after the transplantation. The present case report illustrates the difficulties associated with organ transplantation in patients with primary hypogammaglobulinaemia. ( info) |
4/553. A man with a mysterious hypogammaglobulinaemia and skin rash. We have observed a 26-year-old diabetic male who had been treated with carbamazepine because of seizures. After two months of treatment, he developed a severe illness with skin rash, fever, hepatomegaly and hypogammaglobulinaemia. Since hypogammaglobulinaemia is a rare side effect of carbamazepine treatment, a stop order was given for carbamazepine. The abnormalities (skin, fever, hypogammaglobulinaemia) remained until it appeared that the patient had secretly continued taking the drug. When drug administration was stopped the skin abnormalities improved and serum immunoglobulin levels became normal. The etiology of this transient carbamazepine-induced hypogammaglobulinaemia is unknown. ( info) |
5/553. Hypogammaglobulinemia with lymphoid nodular hyperplasia of the small bowel: endoscopic diagnosis of one case. A 37-year-old man suffering from abdominal pain and diarrhea, was hospitalized because of abdominal discomfort. Gastroduodenal series showed multiple duodenal filling defects. Gastroduodenoscopic examination revealed numerous nodular lesions in the duodenum and biopsy specimen demonstrated nodular lymphoid hyperplasia. The serum immunoelectrophoretic pattern showed a virtual absence of IgA and IgM and a very decreased level of IgG. To our knowledge, it is the first case of hypogammaglobulinaemia with nodular hyperplasia of the small bowel, diagnosed by endoscopy and forceps biopsy. ( info) |
6/553. Myelomatosis after phenytoin therapy: a chance association? The occurrence of a monoclonal gammopathy followed by IgG-lambda multiple myeloma is described in a patient receiving diphenylhydantoin therapy for 20 years for epilepsy. Despite the known association between the drug and the development of immunosuppression and lymphoma, we regard the association recorded in this case to be coincidence. It is suggested that periodic examination of the serum proteins in patients receiving the drug may be useful in detecting early aberrations of the immune system in these individuals. ( info) |
7/553. A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. We describe a female infant with a combination of very short stature, severe eczema and igg deficiency causing recurrent infections in infancy. The radiological features of this condition are presented in the neonatal period, at the age of 5 months and at 2 years and 6 months. We propose that this condition is a previously undescribed type of spondyloepimetaphyseal dysplasia. ( info) |
8/553. A case of intra-abdominal multiple lymphangiomas in an adult in whom the immunological evaluation supported the diagnosis. A 60-year-old patient with intra-abdominal lymphangiomatosis is described. He presented with anaemia due to enteric haemorrhage, hypoproteinaemia with heavy hypogammaglobulinaemia and T-cell lymphopenia. Duodenal biopsy showed lymphangiectasia while a small bowel study revealed several filling defects in the terminal ileum. On exploratory laparotomy, numerous inoperable lymphangio-haemangiomata were found, involving the small and large intestine, appendix, mesenterium, gallbladder and main biliary tract. The importance of T-cell lymphopenia and hypogammaglobulinaemia in the diagnosis of intra-abdominal lymphangiomatosis with lymphangiectasia is stressed. ( info) |
9/553. X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23. We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had prominent glabella, synophrys, prognathism, generalized hirsutism, and bilateral single palmar creases. All developed seizures in childhood. The two oldest have had a slow deterioration in neurological status with poor gait and balance and progressive weakness. No deterioration in their mental status has been observed. The oldest had cerebellar atrophy confirmed on computed tomography and magnetic resonance imaging scans of the brain and prolonged nerve conduction velocity. Two of the males had hypogammaglobulinemia (IgA deficient). Two-point linkage analysis using 27 microsatellite markers on the x chromosome resulted in a maximum lod score of 2.23 at straight theta = 0 for locus DSX101. Recombination was observed at locus DSX1170 in Xq21.33 and locus DXS8067 in Xq23. We conclude that this family represents an X-linked disorder associated with a recognizable phenotype, progressive neurological deterioration, and variable hypogammaglobulinemia. The gene appears to lie between Xq21.33 and Xq23. ( info) |
10/553. Granulomatous interstitial pneumonitis in association with primary hypogammaglobulinemia: computed tomography appearances. The authors describe the computed tomographic appearances of nonspecific granulomatous interstitial pneumonitis in two patients with primary hypogammaglobulinemia. Their purpose is to show that it is important to consider this entity in the differential diagnosis of multiple pulmonary nodules in patients with this disease. ( info) |