ABSTRACT
Rhodococcus equi pneumonia with systemic dissemination is being reported increasingly in immunocompromised patients. This is the first case report of disseminated R equi infection with biopsy documented involvement of the large intestine. The patient was a 46 year old male with AIDS who was diagnosed with cavitating pneumonia involving the left lower lobe. R equi was isolated in culture from the blood and lung biopsies. Subsequently, the patient developed anaemia, diarrhoea, and occult blood in the stool. Colonoscopy revealed several colonic polyps. Histological examination of the colon biopsies showed extensive submucosal histiocytic infiltration with numerous Gram positive coccobacilli and PAS positive material in the histiocytes. Electron microscopy showed variably shaped intrahistiocytic organisms which were morphologically consistent with R equi in the specimen. Disseminated R equi infection may involve the lower gastrointestinal tract and produce inflammatory polyps with foamy macrophages which histologically resemble those seen in Whipple's disease and Mycobacterium avium-intracellulare infection.
Subject(s)
AIDS-Related Opportunistic Infections/pathology , Actinomycetales Infections/pathology , Colonic Diseases/pathology , Rhodococcus equi , Diagnosis, Differential , Humans , Lung/pathology , Male , Middle Aged , Mycobacterium avium-intracellulare Infection/diagnosis , Whipple Disease/diagnosisABSTRACT
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by mental retardation, spasticity and ichthyosis. SLS patients have a profound deficiency in fatty aldehyde dehydrogenase (FALDH) activity. We have now cloned the human FALDH cDNA and show that it maps to the SLS locus on chromosome 17p11.2. Sequence analysis of FALDH amplified from fibroblast mRNA and genomic DNA from 3 unrelated SLS patients reveals distinct mutations, including deletions, an insertion and a point mutation. The cloning of FALDH and the identification of mutations in SLS patients opens up possibilities for developing therapeutic approaches to ameliorate the neurologic and cutaneous symptoms of the disease.
