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

Luteal phase defect (LPD) is an ovulatory disorder of considerable clinical importance that leads to delayed endometrial maturation and inadequate endometrium for blastocyst implantation. This disorder is implicated in infertility and recurrent spontaneous abortion. We analyzed the endometrial histological maturation, and the estrogen receptor(ER) and progesterone receptor(PR) status in patients with unexplained delayed ovulation, and in patients with ovulation induction by clomiphen citrate. The purpose of this study was to determine whether the length of the follicular phase influences the endometrial histological maturation and the hormonal receptor status, and to know the effect of clomiphen citrate on the endometrium. In the delayed ovulation group, the endometrium was characterized by an irregular outpouching and dilated lumina of the glands, a decreased secretory activity and predecidualization, and a decreased number of granulocytes in the stroma. In the clomiphen citrate-ovulation induction group, glandular proliferation was markedly diminished with poorly convoluted and narrow glands, secretory activity was decreased, stroma was undecidualized, and there was an absence of granulocytes. ER expression was increased in the glandular epithelium in the delayed ovulation group, and both ER and PR expressions were markedly decreased in the glandular epithelium and stromal cells in the ovulation induction group. Endometrial maturation and differentiation may be diminished by increased estrogenic and relatively deficient progesterone effects in patients with delayed ovulation. The hormonal receptor status might also be influenced by hormonal changes. Clomiphen citrate successfully induced ovulation in patients with delayed ovulation, however, endometrial proliferation and maturation were markedly suppressed. This might be related to the lower pregnancy rate and higher abortion rate in patients with clomiphen citrate induced ovulation.
Pregnancy ; 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

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

The p21 overexpression is thought to be a consequence of the p53 induced activation of the p21 gene. The immunohistochemical evaluation of p53 and p21 can be a valuable means of assessing the functional status of the p53 gene product. We examined the overexpression of p21 and p53 proteins in primary gastric lymphomas and the correlation with prognosis. A total of 32 cases of gastric lymphomas was classified into low-grade lymphomas of mucosa-associated lymphoid tissue type (n=16) and high-grade B-cell lymphomas (n=16). In low-grade lymphomas, only one case showed p53 positivity and all cases were p21-negative. In high-grade lymphomas, seven cases were p53+/p21- (44%), one case was p53+/p21+ (6%), and eight cases were p53-/p21- (50%). The p53+/p21- cases had a much lower percentage of patients sustaining a continuous complete remission state (3/7, 43%) compared with other cases (6/7, 86%). From these results, we concluded that p21 expression is rare in primary gastric lymphomas. Therefore, p53-positive lymphomas can be assumed as having p53 mutation. And combined studies of p53 and p21 may be used as a prognostic indicator in primary gastric high-grade lymphomas.
Adult ; Aged ; Antibodies, Monoclonal ; Female ; Human ; Immunohistochemistry ; Lymphoma, B-Cell/*chemistry/pathology ; Male ; Middle Age ; Peyer's Patches/chemistry/pathology ; Prognosis ; Protein p53/*analysis/immunology ; Proto-Oncogene Protein p21(ras)/*analysis/immunology ; Stomach Neoplasms/*chemistry/pathology ; Support, Non-U.S. Gov't

Peripheral nerve sheath tumors rarely occur in the oral cavity and include neurofibroma, schwannoma, and palisaded encapsulated neuroma. We report a rare case of benign peripheral nerve sheath tumor of the tongue. This tumor was a 0.8 x 0.5 cm sized, firm mass on the left lateral surface of the tongue. Histologically, this mass was composed of well- circumscribed variable sized nodules, which consisted of moderately cellular spindle cells with vague nuclear palisading and a small amount of fibrous tissue. Most of the tumor cells were strongly positive for S-100 protein, but negative for epithelial membrane antigen on immunohistochemistry. No axons were found by immunostaining for neurofilament and Bodian stains. In addition, the surrounding, compressed, fibrous tissue showed rare EMA- positive cells. The present case might be a rare case of neurofibroma arising in the tongue, although immunohistochemical and special stains did not support such a diagnosis.
Adult ; Case Report ; Female ; Human ; Immunohistochemistry ; Nerve Sheath Tumors/chemistry/diagnosis/*pathology ; S100 Proteins/analysis ; Tongue Neoplasms/chemistry/diagnosis/*pathology

Perineurial cells, which normally surround the nerve fascicles within a nerve, can be distinguished from Schwann cells by their immunoreactivity for epithelial membrane antigen (EMA) and lack of reactivity for S-100 protein. Perineurioma is a form of benign peripheral nerve sheath tumor (PNST) almost exclusively composed of perineurial cells. It is often difficult to differentiate this tumor from the other benign PNSTs or ectopic meningioma by histology alone. Immunohistochemical and electron microscopic studies are helpful for differential diagnosis. We recently experienced a case of soft tissue perineurioma in a 14-year-old girl. This tumor was presented as a 5.6 cm sized subcutaneous movable mass in the elbow. The well encapsulated soft tissue tumor consisted of spindle cells which have whorling and storiform patterns within the collagenous stroma. The spindle cells were stained positive for EMA but negative for S-100 protein, chromogranin, neuron-specific enolase or Leu-7. Ultrastructurally, they possessed long cytoplasmic processes with incomplete basal lamina, primitive intercellular junction and occasional pinocytotic vesicles.
Adolescent ; Basement Membrane ; Collagen ; Cytoplasm ; Diagnosis, Differential ; Elbow ; Female ; Humans ; Immunohistochemistry ; Intercellular Junctions ; Meningioma ; Microscopy, Electron ; Mucin-1 ; Nerve Sheath Neoplasms* ; Peripheral Nerves ; Phosphopyruvate Hydratase ; S100 Proteins ; Schwann Cells