Hereditary internal anal sphincter myopathy: the first Caribbean family.

Hereditary proctalgia is an extremely rare condition characterized by endosonographic evidence of internal anal sphincter (IAS) thickening and specific ultrastructural changes seen at light and electron microscopy (EM). We report the case of a 54-year-old Caribbean woman with severe proctalgia and IAS thickening, treated with IAS myectomy. Transmission EM showed PAS-positive inclusions and granulofibrillary smooth muscle inclusion bodies. Anal endosonography of 5 family members from 3 generations showed IAS thickening in all cases with reported proctalgia. The condition represents an isolated IAS myopathy which is a probable polysaccharide storage disease variant. This condition may require specific surgical therapy with specimen preservation and ultrastructural examination for optimal characterization and treatment.

Epidemiology of Helicobacter pylori infection in Barbados.

The epidemiology of Helicobacter pylori infection in Barbadian patients and controls was studied. H. pylori was isolated from biopsies from 50/100 (50%) adult patients undergoing endoscopy for investigation of upper gastrointestinal tract symptoms. Urease was detected in biopsies from 54 patients and gastritis was detected by histology in 71 patients. Serology was performed using a commercial ELISA method. Using an IgG concentration of 10 U/ml as a threshold, antibodies were detected in 78% of 100 patients undergoing endoscopy, 72% of 230 blood donors and 22% of 50 children. The mean antibody concentration was significantly higher in patients (92 U/ml) than in blood donors (49 U/ml) or in children (9.5 U/ml). Culture-positive patients (120 U/ml) had higher IgG concentrations than culture-negative patients (64 U/ml). Using isolation of H. pylori or a positive biopsy urease test as a measure of true prevalence of infection, the sensitivity of serology was 96%, the specificity 42%, positive predictive value 67% and negative predictive value 90%. Seroprevalence increased with age, to a peak of more than 90% in blood donors aged 50-59 years and in patients aged over 60 years. The epidemiology of H. pylori in Barbados is similar to that in developed countries, where few children are infected, but resembles other developing countries in the high seroprevalence observed in middle-aged adults. Our results confirm the utility of serology for detecting H. pylori by a non-invasive technique.

Anterior horn cell degeneration in polymyositis associated with human T lymphotropic virus Type-1 in patients from Barbados.

Anterior horn cell degeneration has only occasionally been noted in patients with tropical spastic paraparesis associated with human T lymphotropic virus type-1 (HTLV-1) infection. We report on three adult patients with HTLV-1-associated polymyositis who had clinical evidence of anterior horn cell degeneration. One patient had moderate proximal weakness and muscle wasting in all four limbs, while two had mild upper limb weakness with more profound proximal weakness and wasting in the lower limbs. In all three patients, electromyographic findings were compatible with motor unit loss and muscle biopsies showed mononuclear inflammatory cell infiltration; muscle biopsies in two patients showed features of denervation. Immunoglobulin G (IgG) antibodies to HTLV-1 were detected by enzyme-linked immunosorbent assay (ELISA) and confirmed by Western immunoblot in serum and cerebrospinal fluid in all three patients. In two, cell cultures were established from peripheral blood lymphocytes and HTLV-1 antigen was identified by immunofluorescence and the ELISA antigen-capture technique using an anti-p19 HTLV-1 mouse monoclonal antibody. The three cases illustrate the variety of neuromuscular disease, other than spastic paraparesis, that may occur in HTLV-1 infection. In some cases of HTLV-1-associated polymyositis, anterior horn cell degeneration may make a significant contribution to the muscle atrophy observed.

Human T-lymphotropic virus type I DNA in spinal cord of tropical spastic paraparesis with concomitant human T-lymphotropic virus type I-negative Hodgkin's disease.

We studied a 58-year-old black woman from Barbados who simultaneously developed myelopathy and lymphoma with human T-lymphotropic virus type I (HTLV-I) antibodies in serum and cerebrospinal fluid and died 3 years after onset. Neuropathological examination showed typical tropical spastic paraparesis (TSP). The polymerase chain reaction (PCR) demonstrated defective proviral genome retaining the HTLV-I pX and env regions in thoracic spinal cord, the level most severely affected. Defective HTLV-I in the nervous system retaining the pX region may be relevant to pathogenesis because circulating CD8+ cytotoxic lymphocytes specific for HTLV-I pX occur in HTLV-I myelopathy. This patient's lymph node biopsy specimen was consistent with Hodgkin's disease (HD), nodular sclerosis subtype, of B-cell origin. The PCR in the paraffin-embedded lymph node involved by HD failed to amplify HTLV-I proviral sequences. Complete HTLV-I proviral amplification was obtained in paraffin-embedded lymph nodes form positive controls (adult T-cell leukemia). To our knowledge the association of TSP and HD has not been reported previously. Despite claims that HD may be associated with HTLV-I, we demonstrated absence of HTLV-I-infected T cells in the lymphoid infiltrate of HD in this case, positive HTLV-I serology notwithstanding.

Necrotizing haemorrhagic colitis caused by resistant Shigella flexneri. Report of a case.

A case of fatal infection with Shigella flexneri is reported. The 19-year-old male patient who presented with fulminating haemorrhagic colitis died nine days after the onset of symptoms. The infecting strain of Shigella flexneri was resistant to multiple antimicrobial agents, including amoxycillin, co-trimoxazole and chloramphenicol.

Uterine leiomyosarcoma with intracerebral metastasis: a case report.

A case of a 36-year-old woman with a past history of uterine leiomyosarcoma and an intracerebral metastasis is reported. The patient presented with a 24-hour history of severe headache with coma, and the CT findings were consistent with a metastatic lesion. Pathological examination of the operative specimen showed features of a leiomyosarcoma. Uterine leiomyosarcoma is an uncommon tumor and metastasis to the brain is rare.

Aspergillosis in a patient with acute lymphoblastic leukaemia.

A case is described of a 3-year-old boy with acute lymphoblastic leukaemia (ALL) who presented initially with aspergillosis of the nasopharynx. Fungal infection with Aspergillus species is not uncommon in immunosuppressed children, but this case is noteworth in that the disease presented at the onset of therapy rather than during the phase of treatment, with maximum immunosuppression following chemotherapy. This type of infection is usually associated with the treatment of acute non-lymphoblastic leukaemias (AML) rather than ALL, and prolonged periods of neutropenia which results from aggressive treatment. This patient responded rapidly to treatment with amphotericin B, coincident with resolution of his neutropenia as the underlying disease was treated, eventually eradicating the fungus.

Coexistence of Porphyria cutanea tarda and systemic lupus erythematosus

The association of porphyria cutanea tarda with a well-documented case of systemic of systemic lupus erythematosus is reported. Renal histopathology is presented. Both conditions have been quiescent during the past year of follow-up