Adult polyglucosan body disease.

We describe a case of adult polyglucosan body disease with characteristic clinical symptoms of peripheral neuropathy, upper motor neuron signs, and bowel and bladder dysfunction. Sural nerve biopsy revealed diagnostic intra-axonal polyglucosan bodies. On electron microscopic examination, the inclusions were located mainly within myelinated nerve fibers and consisted of branched filaments that were 6 to 8 nm wide. The diagnosis of adult polyglucosan body disease was confirmed by a skin biopsy from the axilla showing similar inclusions in myoepithelial cells of apocrine glands. This report provides additional evidence that skin biopsy, to date advocated by a single case report only, may be a less invasive and simpler diagnostic alternative to sural nerve or brain biopsies.

Renal sarcoidosis with superimposed postinfectious glomerulonephritis presenting as acute renal failure.

We describe two patients with sarcoidosis with lesions of granulomatous interstitial nephritis (GIN) and postinfectious glomerulonephritis (GN). Both patients presented with heavy proteinuria, hematuria, and renal failure. Renal histology in both showed GIN and glomerular changes of proliferative GN with hump-like subepithelial deposits by electron microscopy of postinfectious GN. Antecedent history of pneumonia was present in one, and ASO titer was elevated in the other. The proteinuria and azotemia improved in both with steroid therapy. Reports of "postinfectious" or diffuse proliferative GN in patients with sarcoidosis are rare. The authors are unaware of reports of concomitant sarcoid GIN and postinfectious GN. Although acute renal insufficiency or failure can occur with GIN or other more common renal lesions primary glomerular disease should be considered in patients with sarcoidosis who present with renal dysfunction. This is a US government work. There are no restrictions on its use.

Oral hairy leukoplakia: an ultrastructural study and review of the literature.

A 39-year-old, homosexual, Caucasian man with a 9-month history of acquired immunodeficiency syndrome by reduced CD4 lymphocyte count alone was found to have extensive, asymptomatic, nonremovable, corrugated, white patches on the lateral borders and ventral aspects of the tongue typical of oral hairy leukoplakia (OHL). Histologically, irregular hyperparakeratosis, acanthosis, and clusters of ballooned keratinocytes in the stratum spinosum were present in the biopsied lateral tongue. Some of the superficial ballooned keratinocytes had peripherally beaded nuclei, whereas others had ground glass intranuclear inclusions. Ultrastructurally, the ballooned keratinocytes had three important findings of diagnostic significance. First, frequent herpesvirus nucleocapsids were largely confined to superficial ballooned keratinocytes having marginated and condensed chromatin. In searching for herpesvirus nucleocapsids, the marginated and condensed chromatin was an invaluable marker for cells harboring the virions. Second, the marginated and condensed chromatin frequently had a distinctive punched-out or cribriform appearance. Third, the ground glass intranuclear inclusion bodies consisted of central, medium electron-dense, finely granular material containing frequent herpesvirus nucleocapsids and partially surrounded or capped by prominent, clumped chromatin. The patient died with progressive multifocal leukoencephalopathy 24 months after OHL was diagnosed.

PCR amplification from fixed tissue indicates frequent involvement of Brachyspira aalborgi in human intestinal spirochetosis.

PCR procedures amplifying portions of the 16S rRNA and NADH oxidase genes of Brachyspira aalborgi and Serpulina pilosicoli were applied to DNA extracted from paraffin-embedded human colonic or rectal tissues from 30 Norwegian, Australian, and U.S. patients, 16 of whom had histologic evidence of intestinal spirochetosis (IS). B. aalborgi-specific sequences were identified by PCR in 10 of the IS patients (62.5%) but none of the others, while S. pilosicoli sequences were not detected in tissues from any patient. Direct sequencing of products from three of the positive samples provided further confirmation of the presence of B. aalborgi. B. aalborgi may be a more common cause of intestinal spirochetosis than has been previously thought.

Papillary eccrine adenoma: an ultrastructural and immunohistochemical study.

A 45-year-old African American man presented with a small, solitary, nonulcerated cutaneous lesion of the right thigh of many years duration, which was excised. Light microscopically, the lesion consisted of an oval, well-circumscribed, intradermal proliferation of tubules, which were often dilated and lined by a double layer of tumor cells with conspicuous intraluminal papillations. Ultrastructurally, there was evidence of both intradermal eccrine duct and eccrine secretory coil differentiation. Although the majority of tumor cells resembled cells of the intradermal eccrine duct, occasional myoepithelial tumor cells and rare tumor cells having secretory granules and resembling dark mucous cells were indicative of eccrine secretory coil differentiation. The positive immunohistochemical staining for S-100 protein, CEA, EMA, and vimentin supported these ultrastructural findings.

Giant lamellar bodies in a pulmonary MALT lymphoma: a case report with ultrastructural and immunohistochemical studies.

A 35-year-old, African-American man presented with a 7-year history of a persistent, enlarging pulmonary infiltrate in the right middle lobe associated with three episodes of right-sided pneumonia, recent 12-lb weight loss, and progressive shortness of breath. The nature of the right middle lobe infiltrate was unclear, but recurrent aspiration pneumonia and carcinoma of lung were important considerations. Exploratory thoracotomy with partial lobectomies revealed a low-grade B-cell lymphoma of mucosa-associated lymphoid tissue (MALT). Clusters of giant lamellar bodies were a unique finding in this lymphoma. Results of ultrastructural and immunohistochemical studies gave support to the views that these inclusions were derived from both products of cellular degeneration and surfactant. The pulmonary lymphoma subsequently spread to the gastric mucosa. The patient is alive with lymphoma 5 years after the initial diagnosis was made.

Tumor of the broad ligament in von Hippel-Lindau disease of probable mullerian origin.

A rare neoplasm seen in women with von Hippel-Lindau disease is the papillary cystadenoma of the broad ligament, only three cases of which have been reported. All three exhibited characteristic histologic features identical to those of epididymal tumors that occur in affected patients, and were presumed to be of wolffian origin. This is the case of a broad ligament tumor in a woman with von Hippel-Lindau disease that had features more consistent with a mullerian rather than wolffian origin. This is the first report of a broad ligament tumor of probable mullerian origin in von Hippel-Lindau disease.

Disseminated blastomycosis and acquired immunodeficiency syndrome: a case report and ultrastructural study.

A 42-year-old, African-American man presented with a 2-month history of weight loss and fever for 2 weeks. Presumptive diagnoses of human immunodeficiency virus infection (HIV) and acquired immunodeficiency syndrome were made on the basis of a CD4 lymphocyte count of 23 lymphocytes/mL. Chest x-ray revealed right paratracheal adenopathy and a miliary pattern. The etiology of the patient's pulmonary infection was not known, but tuberculosis was an important consideration. Over 5 days, the pulmonary infection progressed and was complicated by acute respiratory distress syndrome (ARDS), septic shock, and death, despite vigorous antibiotic and supportive therapy. Serologic tests for HIV infection were reported as positive after the patient's demise. The etiology of the patient's pulmonary infection, ARDS, and sepsis was not known until autopsy study revealed enumerable yeast-like cells of Blastomyces dermatitidis in the extensively consolidated lungs and in disseminated foci of infection in most other major organs. Diffuse alveolar damage was closely associated with the pulmonary blastomycosis. Electron microscopic study of the yeast-like cells of B. dermatitidis in the autopsy lung obtained and fixed 5 days after the patient's death revealed excellent preservation of viable organisms.

Porocarcinoma of the heel. A case report with unusual histologic features.

BACKGROUND: Eccrine porocarcinoma is an uncommon neoplasm of the intraepidermal sweat gland duct. METHODS: A case of porocarcinoma of the right heel in a male age 51 years is described with a review of pertinent literature. The surgically excised neoplasm was evaluated by routine histology and transmission electron microscopy. RESULTS: The porocarcinoma showed extensive nuclear pleomorphisms with frequent, multinucleated tumor giant cells, focal epidermotrophic spread within the epidermis, a peripheral, eccrine syringofibroadenoma-like growth pattern, and an origin in a contiguous eccrine poroma. Ultrastructurally, the squamous tumor cells contained rare intracytoplasmic lumens. CONCLUSIONS: The extensive nuclear pleomorphism with frequent tumor giant cells was an unusual feature of the porocarcinoma. Its epidermotrophic spread within the epidermis and its origin in a contiguous eccrine poroma supported the diagnosis of porocarcinoma. The eccrine syringofibroadenoma-like growth pattern in the periphery of the tumor was a unique and previously undescribed feature of the porocarcinoma. The presence of intracytoplasmic lumens in squamous tumor cells mimicked embryonic development of the intraepidermal sweat gland duct.

Cat scratch disease and acquired immunodeficiency disease: diagnosis by transmission electron microscopy.

A 33-year-old, homosexual, cat-owning, African-American man with human immunodeficiency virus infection by positive serologic tests and acquired immunodeficiency syndrome by CD4 lymphocyte count alone (39 cells/mL) presented with a one-year history of intermittent fever, weight loss, and generalized lymphadenopathy. A malignant lymphoma was suspected clinically. Light microscopic study of a left inguinal lymph node biopsy specimen revealed effacement of the lymph node architecture by a diffuse infiltrate of large, atypical reticulum cells, loose, patchy granulomatous inflammation, diffuse hyaline fibrosis, diffusely proliferated blood vessels, and multifocal degeneration and necrosis. Lymph follicles were absent and lymphocytes were moderately depleted. Microorganisms were not seen in lymph node sections stained with special histochemical stains (including the Warthin-Starry stain). These light microscopic changes were considered suggestive of a malignant lymphoma, especially Hodgkin's disease. The diagnosis of cat scratch disease (CSD) became apparent only after transmission electron microscopic study of the lymph node revealed clusters of small, pleomorphic bacteria in degenerated collagenous tissue and in blood vessel walls. This case illustrates the value of transmission electron microscopy in making the diagnosis of CSD, especially when light microscopic changes are superimposed on those of late human immunodeficiency virus infection of the lymph node.

Trichomoniasis complicating esophageal intramural pseudodiverticulosis: diagnosis by transmission electron microscopy.

A 58-year-old African-American man presented with a progressive esophageal stricture of unknown etiology complicated by esophageal candidiasis, broncho-esophageal fistula, four episodes of aspiration pneumonia, and a 40-lb weight loss. He ultimately required an esophagectomy. Pathologic examination showed marked thickening of the esophageal wall by submucosal pseudodiverticula typical of esophageal intramural pseudodiverticulosis (EIPD) and extensive mucosal and submucosal chronic inflammation and fibrosis. Small, oval cells with ill-defined nuclei were present in lumens of some pseudodiverticula, light microscopically. Their exact nature could not be determined by light microscopy. The diagnosis of trichomoniasis became apparent only after transmission electron microscopic study of these cells demonstrated characteristic features of trichomonad protozoa. These included four anteriorly placed flagella with kinetosomes, a recurrent flagellum associated with an undulating membrane, a costa, a peltar-axostylar complex, and a small Golgi body with parabasal filaments. This case of EIPD is unusual in that the associated broncho-esophageal fistula and trichomoniasis have not been previously reported as complications of EIPD.

Disseminated toxoplasmosis and acquired immunodeficiency syndrome: diagnosis by transmission electron microscopy.

A 43-year-old, bisexual, black man with acquired immunodeficiency syndrome (AIDS), detected by CD4 lymphocyte criteria alone, presented with low-grade fever, chills, malaise, and watery diarrhea of 2 days' duration. Over the next 5 days, he developed a fulminant septicemia-like illness with progressive hypotension, disseminated intravascular coagulation, and very high serum lactic acid dehydrogenase (2,150 U/L) and serum creatine phosphokinase (5,395 U/L) levels, and died. The cause of this illness was not clinically apparent. A bone marrow biopsy performed on the day of his death revealed intracytoplasmic clusters of 3 microns long, oval, basophilic organisms, the exact nature of which was not evident by light microscopy. The diagnosis of disseminated toxoplasmosis (DT) was made only after electron microscopic study of the bone marrow revealed organisms with features typical of Toxoplasma gondii tachyzoites. These features included a multilayered pellicle, a pointed anterior end containing a conoid, up to nine rhoptries, sparse micronemes, and a posterior end containing a nucleus. Some of the organisms had divided by internal budding or endodyogeny. This case illustrates the value of transmission electron microscopy in making the diagnosis of DT.

Intestinal spirochetosis and acquired immunodeficiency syndrome: ultrastructural studies of two cases.

Two cases of intestinal spirochetosis (IS) with acquired immunodeficiency syndrome are reported. In case 1, a 48-year-old homosexual black man presented with a 1-month history of alternating watery diarrhea and constipation, which dissipated following the removal of two colonic hyperplastic polyps containing IS. In case 2, a 26-year-old homosexual black man presented with a 3-month history of persistent bloody diarrhea and was found to have chronic shigellosis and IS. Pathologic findings of IS were similar in both cases. Basophilic fringes typical of IS covered the surfacing colonic epithelium and consisted of dense growths of spirochetes adherent to and oriented perpendicular to the plasma membranes of the surfacing epithelium. The spirochetes measured 3 to 5 microns in length and 0.2 micron in width, contained four to eight axial fibrils, and closely resembled Brachyspira aalborgi ultrastructurally. These cases are notable because the histopathologic changes of IS were more extensive than generally described. There was involvement of both the right colon and rectum by IS in case 2, and in both cases there was extension of the IS down into the crypts of Lieberkühn, spirochetal invasion of the colonic mucosa, and a conspicuous inflammatory response by macrophages in the underlying lamina propria.

Tripartite differentiation in a carcinoma of the duodenum.

BACKGROUND: Carcinomas containing three distinctly different cell lines have been encountered in the colon and rectum, but a tripartite malignancy in the small intestine has not been reported previously. METHODS: A duodenal carcinoma was studied by light and electron microscopic examination and immunohistochemistry. RESULTS: The duodenal carcinoma was found to have tripartite glandular, squamous, and neuroendocrine differentiation. Histologically, an adenocarcinoma, which originated in a villous adenoma, was continuous with squamous cell carcinoma and small cell carcinoma components. Tumor cells of the squamous cell carcinoma component had conspicuous intercellular bridges but did not form keratin pearls. Immunohistochemical analysis showed strong expression of carcinoembryonic antigen (CEA) by the adenocarcinomatous component. The squamous cell carcinoma component demonstrated focal weak CEA and neuron specific enolase (NSE) reactivity. Ultrastructurally, tumor cells of this component had frequent desmosomes and free tonofilaments. The small cell carcinoma had clusters of dense core granules in tumor cell cytoplasmic processes, which are indicative of neuroendocrine differentiation. This neuroendocrine component was immunoreactive for somatostatin and NSE. CONCLUSIONS: This case of tripartite duodenal carcinoma supports the theory of an origin from an intestinal pluripotential stem cell capable of differentiating into multiple cell types.

Cytomembranous inclusions in myelodysplastic syndrome.

A 56-year-old African-American man presented with fever of unknown origin and peripheral blood and bone marrow findings of myelodysplastic syndrome (MDS): refractory anemia with an excess of blasts in transformation that subsequently progressed to acute myeloblastic leukemia (AML). Ultrastructural study of two bone marrow specimens having the findings of MDS revealed frequent, large tubuloreticular structures (TRS) in lymphocytes, plasma cells, macrophages, and endothelial cells. Several cylindrical confronting cisternae (CCC) were present in macrophages and an endothelial cell. Two partially developed CCC were present in a plasma cell. TRS and CCC were not observed in eight subsequent bone marrow specimens obtained during the 9-month course of the AML. This is the first reported occurrence of TRS and CCC in MDS. These inclusions are probably related to an unidentified viral infection or possibly to cytokines released by the dysplastic hematopoietic cells.