ABSTRACT
Cokeromyces recurvatus is a dimorphic zygomycete with histologic morphology similar to Coccidioides immitis. A 66-year-old man who was status-post bone marrow transplantation for chronic myelogenous leukemia was hospitalized with new onset rash, nausea, and vomiting and subsequently expired. A sputum culture collected on the day of death revealed heavy growth of C. recurvatus 6 days after collection. At autopsy, microscopic examination of the lungs revealed numerous thick-walled, nonbudding spherules ranging in size from 40 to 80 µm. Initial immunohistochemical staining of the formalin-fixed lung tissue was positive for Coccidioides. Additional immunoperoxidase staining revealed the organisms were consistent with a zygomycete fungus, compatible with C. recurvatus infection. Polymerase chain reaction using panfungal primers was attempted on the formalin-fixed tissue but was inconclusive. This case highlights the potential for misdiagnosing Cokeromyces as Coccidioides when the diagnosis is based on histology and immunohistochemical staining.
Subject(s)
Lung Diseases, Fungal/diagnosis , Lung/microbiology , Mucorales/isolation & purification , Pneumonia/diagnosis , Aged , Coccidioidomycosis/diagnosis , Coccidioidomycosis/microbiology , Coccidioidomycosis/pathology , Diagnostic Errors , Fatal Outcome , Humans , Lung/pathology , Lung Diseases, Fungal/microbiology , Lung Diseases, Fungal/pathology , Male , Pneumonia/microbiology , Pneumonia/pathologyABSTRACT
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a putative chromatin remodeling protein. Neurologic manifestations identified to date relate to enhanced atherosclerosis and cerebrovascular disease. Based on a clinical survey, we determined that half of Schimke immuno-osseous dysplasia patients have a small head circumference, and 15% have social, language, motor, or cognitive abnormalities. Postmortem examination of 2 Schimke immuno-osseous dysplasia patients showed low brain weights and subtle brain histologic abnormalities suggestive of perturbed neuron-glial migration such as heterotopia, irregular cortical thickness, incomplete gyral formation, and poor definition of cortical layers. We found that SMARCAL1 is highly expressed in the developing and adult mouse and human brain, including neural precursors and neuronal lineage cells. These observations suggest that SMARCAL1 deficiency may influence brain development and function in addition to its previously recognized effect on cerebral circulation.
Subject(s)
Brain/growth & development , Brain/pathology , DNA Helicases/biosynthesis , Immunologic Deficiency Syndromes/metabolism , Osteochondrodysplasias/metabolism , Animals , Blotting, Northern , Blotting, Western , Brain/metabolism , Fluorescent Antibody Technique , Gene Expression Regulation, Developmental , Humans , Immunohistochemistry , Immunologic Deficiency Syndromes/complications , Immunologic Deficiency Syndromes/pathology , In Situ Hybridization , Mice , Microcephaly/etiology , Osteochondrodysplasias/complications , Osteochondrodysplasias/pathology , Phenotype , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
We report a unusual case of an inflammatory myofibroblastic tumor arising at the gastroesophageal junction in a 14-year-old girl. The bland histologic appearance with concurrent infiltration into adjacent structures made diagnostic interpretation difficult, but suggested a neoplastic process. A literature review was undertaken to address diagnostic and management issues raised in this case. Although the anatomic location was unusual, clinical, grass, histopathologic, and immunohistochemical data substantiated the diagnosis of inflammatory myofibroblastic tumor. The bland histologic appearance was consistent with the most widely accepted view of inflammatory myofibroblastic tumor as a low-grade neoplasm. Wide surgical excision was performed. This is considered the preferred treatment given the potential risk of recurrence and aggressive behavior, most frequently noted with extrapulmonary disease. Although inflammatory myofibroblastic tumor represents an heterologous spectrum of benign to malignant neoplastic proliferations, the prognosis is good in casts with benign histologic features.
