Hereditary sensory and autonomic neuropathies (HSAN) are disorders of hereditary neuropathy mainly affecting sensation and also accompanying autonomic nervous system dysfunction. They are divided into five subtypes based on inheritance pattern and clinical manifestation. Among HSAN, type II is characterized by autosomal recessive inheritance, presentation at later stage of life, slow progression and mainly sensation abnormalities. The main pathology of the peripheral nerve is the absence of myelinated nerve fibers. Type IV is very rare disorder and only a few cases have been reported. It is characterized by autosomal recessive inheritance, presentation at birth as failure to thrive, retarded motor development, unexplained pyrexia and rapidly progressive and severe clinical course. The main pathology of the peripheral nerve is a loss of unmyelinated and small myelinated nerve fibers. We report two cases of type IV and one case of type II especially focusing on ultrastructural findings, which are characteristic of and diagnostic for HSAN.
Autonomic Nervous System ; Failure to Thrive ; Fever ; Hereditary Sensory and Autonomic Neuropathies* ; Inheritance Patterns ; Nerve Fibers, Myelinated ; Parturition ; Pathology ; Peripheral Nerves ; Sensation ; Wills

Ectopic liver in the umbilicus is very rare, and a few cases have been reported in the world. It is thought that an increased intraabdominal pressure resulting in entrapment of liver cell nests causes the presence of liver in the umbilicus. It relates to neonatal problem such as infection. We report a case of ectopic umbilical liver in a stillborn male of 28 gestational weeks. His mother discovered loss of fetal movement 2 days before admission, and intrauterine fetal death was diagnosed by ultrasonography. Grossly, the umbilical cord was markedly swollen. On cut section, a well circumscribed, oval round, tan-colored soft mass was noted within the cord. Histologically, it consisted of hepatic cords without bile ducts. The umbilical vessels were distorted by the ectopic liver, and contained thrombi. These findings suggest that ectopic umbilical liver results in the intrauterine fetal death
Male ; Infant, Newborn ; Humans

The choroid plexus papilloma is a rare tumor. Its incidence is 0.4-0.6% of all intracranial tumors. Most cases of this tumor are found in the young subject, especially infant and childhood but its congenital form is very rare. The clinical and pathologic findings of congenital choroid plexus papilloma are similar to that of any age. But the cilia on the cell surface are common in the former and very rare in the latter. We present a case of congenital choroid plexus papilloma of the lateral ventricle in a 2 month-old male baby. He had suffered from a sudden onset of convulsions and a drowsy mental state for 2 days. The CT scan revealed a large intraventricular tumor in the left lateral ventricle with hydrocephalus. After ventriculo-peritoneal shunt(V-P shunt), his symptoms were improved. But the hydrocephalus was aggravated due to malfunction of V-P shunt, and he recieved the operation after 4 months. The gross examination revealed a large ovoid papillary tumor(4x3x3cm). On light microscopic examination, the tumor showed papillary structure lined by columnar eosinophilic cells. Some cells had cilia. The electron microscopic finding showed intercellular junction, microvilli and cilia. The tumor cells were positive for cytokeratin, vimentin and S-100 protein.
Infant ; Child ; Male ; Female ; Humans ; Incidence

We report a case of aggressive angiomyxoma in ischiorectal fossa of a 39-year-old women. The tumor is characterized by relatively large size(13 x 11 cm), grossly gelatinous appearance and locally infiltrative nature. Microscopically, it consists of many variable sized blood vessels and spindle or stellate cells widely separated in myxoid or collagenous stroma. Immunohistochemical stains reveal that the tumor cells are strongly positive for actin and desmin. Electron microscopic findings are that of a few cells dispersed in abundant intercellular substance and collagen bundles. These cells form irregular cytoplasmic process without basal lamina and contain endoplasmic reticulum having cistern.
Female ; Humans

PURPOSE: To investigate the expression pattern of p27 protein in primary gastric lymphomas. MATERIALS AND METHODS: Immunostaining for the p27 protein was performed in 16 cases of low grade mucosa-associated lymphoid tissue (MALT) lymphomas and 16 cases of high grade B-cell lymphomas of the stomach. RESULTS: All low grade MALT lymphomas were positive, however all high grade lymphomas were negative forp27 protein. Most of the monocytoid cells in the low grade lymphoma were unstained. CONCLUSION: Loss of p27 protein expression is well correlated with histologic grade and appears to be associated with the high grade transformation seen in primary gastric lymphomas.
Lymphoid Tissue ; Lymphoma* ; Lymphoma, B-Cell ; Lymphoma, B-Cell, Marginal Zone ; Stomach

Hemangioma in the submandibular gland is extremely rare. It is mostly cavernous in the subtype found in adults. A case of arteriovenous hemangioma occurred in a 60-year old male patient. Oropharyngeal computed tomography revealed an ill-defined, poorly enhanced mass that involved the plastyma muscle. The excised mass was composed of large numbers of dilated blood vessels, mostly veins, with a peripheral rim of non-neoplastic salivary gland tissue. Small numbers of arteries were also admixed. Elastic staining revealed communications of the arteries and veins, which confirmed the diagnosis. Local recurrence is common in arteriovenous hemangioma because of the difficulties in achieving a complete excision, so pathologic diagnosis of this subtype is important in case of hemangioma.
Adult ; Arteries ; Blood Vessels ; Diagnosis ; Hemangioma* ; Humans ; Male ; Middle Aged ; Prognosis ; Recurrence ; Salivary Glands ; Submandibular Gland* ; Veins

We report three cases of neuroendocrine tumors of the lung characterized by large pleomorphic cell with frequent mitosis, which show neuroendocrine differentiation by both light microscopy or electron microscopy and iminunohistochemistry. These tumors have been categorized as large cell neuroendocrine carcinoma by Travis et al.(1991) in contrast with non-small cell lung cancer with neuroendocrine differentiation. In the latter, neuroendocrine differentiation is not evident by light microscopy and must be demonstrated by imunohistochemstry or by electron microscopy. The prognosis of large cell neuroendocrine carcinoma, together with non-small cell lung cancer with neuroendocrine differentiation, appears to be worse than cancer without neuroendocrine differentiation and intermediate between atypical carcinoid and small cell lung cancer. Larger numbers of patients will be needed to demonstrate significant differences in survival.
Lung Neoplasms

Malignant tumors of the breast which contain stromal osteoclast-like, multinucleated giant cells are a rare entity of yet unknown clinical significance. These benign multinucleated giant cells are known to occur mostly in areas of prominent angiogenesis and in close association with tumor cells. Supplementary immunohistochemical and electronmicroscopic examinations indicate that the multinucleated giant cells are of histiocytic origin. We report on a case of infiltrating ductal carcinoma with stromal osteoclast-like multinucleated giant cells occurring in the right breast of a 37 year-old woman. Grossly, the tumor was characterized by a well-circumscribed dark brown, solid firm mass. Microscopically, multinucleated giant cells were found in the stroma intermingled with malignant tumor cells. The stroma showed only a small amount of mononuclear cell infiltration and a moderate degree of vascular proliferation. Immunohistochemical stains revealed the tumor cells to be positive for carcinoembryonic antigen, epithelial membrane antigen and cytokeratin while the multinucleated giant cells were positive for vimentin, CD68 and negative for all other stains tested. Ultrastructurally the multinucleated giant cells differed from tumor cells by having abundant cytoplasmic organelles such as rough endoplasmic reticulum, lysosomes, ribosomes, and vesicles but lacking desmosomes or other types of intercellular junctions. Other characteristic features of multinucleated giant cells included, indented nuclei and prominent cytoplasmic process.
Female ; Humans

A rare case of functioning oncocytic parathyroid adenoma associated with primary hyperparathyroidism was found in a 45-year-old woman. The preoperative serum calcium level was 13.1 mg/dL, the phosphate level was 2.44 mg/dL and the parathyroid hormone level was 153 pg/mL. Neck CT revealed a 2.5x1x1 cm, well enhanced mass behind the left thyroid gland, which was compatible with parathyroid adenoma. The removed parathyroid gland showed a well circumscribed, ovoid, brown colored, soft, solid mass. Histologically, this mass was composed of broad sheets of uniform cells having round dense nuclei and abundant eosinophilic granular cytoplasms. The adjacent rim of the normal parathyroid tissue was identified in the periphery of the mass. After operation, all hormone levels were normalized.
Adenoma ; Calcium ; Cytoplasm ; Eosinophils ; Female ; Humans ; Hyperparathyroidism, Primary* ; Middle Aged ; Neck ; Parathyroid Glands ; Parathyroid Hormone ; Parathyroid Neoplasms* ; Thyroid Gland

Metanephric adenoma is a rare renal epithelial tumor. Its light microscopic features are very characteristic, and immunohistochemical and electron microscopic studies are not critical to the diagnosis. The literature indicate that, to date, the tumor has behaved in a benign fashion, and predominantly but not exclusively occurred in middle-aged women. It occurs in a wide range up to 11 cm and is usually an incidental finding but may be symptomatic with hematuria or flank pain. Recently, we have experienced a case of renal tumor showing distinctive adenomatous features, which is incidentally found in a 52-year-old female. This tumor is confined to the renal cortex and is well-circumscribed with a characteristic uniform and orderly proliferation of compact well-differentiated small tubules lined by bland oval cells with a very low level of mitotic activity. The term metanephric adenoma is appropriate for this tumor because it accurately describes its bland proliferation of tubules and reflects the embryonic architectural and cytological appearance of this proliferation. The pattern of the tumor, with its occasional papillary glomeruloid- like bodies and foci of elongated tubules, is reminiscent of the fetal metanephric kidney.
Adenoma* ; Diagnosis ; Female ; Flank Pain ; Hematuria ; Humans ; Incidental Findings ; Kidney* ; Middle Aged