Biomedical subjects
Publications and source records attributed to R Caduff.
This report describes the case of a 22-year-old female patient with noncharacteristic complaints in the lower abdomen. Sonography revealed a large cyst close to the right adnexa, suggestive of adnexitis; however, laparoscopy, performed because of suspected adnexitis, revealed a cystic tumor connected to the omentum instead.
BACKGROUND: Reports on lymphoid malignancy and its treatment in children infected with human immunodeficiency virus (HIV) are limited. METHODS: Antibodies to Epstein-Barr virus (EBV) were detected by indirect immunofluorescence. DNA was extracted from peripheral blood lymphocytes or biopsy specimens. Polymerase chain reaction was run using primers for EBV. Reaction products underwent Southern blot analysis to confirm EBV specificity. Tumor clonality was assessed by immunohistochemistry and by Southern blot analysis of immunoglobulin heavy-chain and T-cell receptor beta-gene rearrangement. RESULTS: Within 1 year, non-Hodgkin's lymphoma (NHL) was diagnosed in four children infected with HIV. All four were EBV-seropositive and had detectable EBV DNA in peripheral blood lymphocytes. The EBV-linked disorders lymphoid interstitial pneumonia and recurrent parotid enlargement preceded NHL in three and two of the children, respectively. In all four patients, NHL involved at one time the central nervous system (CNS). All three tested NHL tissues were positive for EBV DNA: A 12-week course of chemotherapy given to two children resulted in rapid tumor regression. One of these children experienced meningeal relapse and died 16 months after diagnosis. The other child, who in addition received local irradiation of the affected eye and who underwent surgical removal of the involved ovaries, has been in continuous remission for 20 months. CONCLUSIONS: EBV-associated NHL may be seen more frequently in pediatric patients with HIV. Treatment protocols taking into account NHL propensity for the CNS in this age group need to be developed.
A hydropic stillborn female fetus of 22 weeks gestation with shortlimbed skeletal dysplasia and brachyphalangy is described. The markedly shortened phalanges of both hands had a most unusual angel-like configuration radiologically. Histological examination and comparison with a normal hand of the same gestational age revealed this appearance to be due to disturbed enchondral ossification with premature calcification of epiphyseal cartilage and thickening and outfolding of diaphyseal bone as wing-shaped appositions. Magnetic resonance imaging of the fetus demonstrated marked hyperplasia of cartilage, most impressive in the pelvis. This new type of lethal bone dysplasia may be placed in the group of metatropic dysplasias and similar disorders.
A male infant with primary combined immunodeficiency, microcephaly with marked cerebellar hypoplasia, and growth failure of prenatal onset is presented. He developed progressive pancytopenia in the 3rd year of life and died at 42 months from disseminated aspergillosis. Laboratory studies and post mortem examination failed to reveal any known aetiology for his disorder. Hreidarsson et al. [3] previously described a syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure in three boys, with similar clinical and laboratory findings. Although extensive immunological investigations were not performed in those previous patients, recurrent infections in two of them are suggestive of immunodeficiency. In the light of the immunological findings in our patient, we propose that the condition of the four patients belongs to the same syndrome, which has to be considered as a primary combined immunodeficiency syndrome. This syndrome can be distinguished from the other known immunodeficiency syndromes by its associated characteristic features, namely microcephaly with cerebellar hypoplasia, growth failure of prenatal onset and progressive pancytopenia.
An immunocompetent 9-year-old boy with disseminated cat scratch disease involving spleen, cervical and abdominal lymph nodes, skull, and one clavicle is reported. Antibodies to Rochalimaea quintana and R. henselae were detected, at increasing, then decreasing concentration. DNA extracted from the biopsied skull lesion was amplified by polymerase chain reaction and hybridized with species-specific oligonucleotides proving the presence of R. henselae in affected tissue. Our findings suggest that R. henselae plays a pathogenic role in cat-scratch disease.
Three children with human immunodeficiency virus infection and invasive infection with Mycobacterium genavense are reported. Fever spikes, abdominal cramps and distension, diarrhea or ileus, and anemia were the predominant symptoms in the severely immunodeficient patients (CD4 lymphocytes < 0.04 x 10(9)/l). Numerous acid-fast bacilli were readily detectable by microscopy in stool samples and in lymph node biopsies, but cultures for mycobacteria remained negative. Mycobacterium genavense should be sought when invasive non-tuberculous mycobacteriosis is suspected and mycobacterial cultures from blood or other sites show limited growth. Multiple-drug regimens including amikacin, ethambutol, rifampin, and clarithromycin may be of benefit in controlling the infection, as observed in two patients.
We report a patient with a clinical picture consisting of small birth weight, connatal hypoplastic anaemia, vacuolised bone marrow precursors, failure to thrive, and, subsequently, by insulin-dependent diabetes, renal Fanconi syndrome, lactic acidosis, complex organic aciduria, and elevation of haemoglobin F and of adenosine deaminase activity. The clinical course was progressive and death occurred at age 19 months. A high proportion of mitochondrial (mt) DNA molecules with a deletion of nucleotides 9238 to 15575 were identified in several tissues; about half of the shortened mtDNA molecules were concatenated to form circular dimers. The clinical and laboratory findings support recent conclusions that Pearson syndrome is not confined to bone marrow and pancreas, as originally described, but is a multi-organ disorder associated with deletions in part of the mtDNA molecules. The tissue distribution and the relative proportions of the abnormal mtDNA molecules apparently determine the phenotype and clinical course.
A 69-year-old female was admitted because of a febrile state, somnolence, nausea and diarrhea. Addison's disease known to have developed several years earlier after adrenal tuberculosis suggested Addisonian crisis triggered by an acute infection. Therapy with steroids and substitution of electrolytes and fluid led to rapid improvement. Streptococcus bovis was identified as causative agent. The known association of this germ with cancer of the colon led to further investigation which revealed cancer of the sigmoid and incidental cancer of a salpinx. After surgical removal of both cancers, the patient has remained free of complaints under substitution of steroids.
This 6-year-old girl was admitted with insufficient involuntary breathing and generalized hypotonia. T2-weighted MR images showed bilateral symmetrical tubular hyperintense lesions in the medio-caudal part of the medulla oblongata that correlated well with demyelination and gliosis in the regions of the reticular formation and the nucleus solitarius found at autopsy. The typical lesions of Leigh's disease in the basal ganglia were not present, which made the diagnosis uncertain prior to the histopathological findings. MRI was very helpful in deciding on further management of the patient.