Reduced amplitude of the sural nerve sensory action potential in PARK2 patients.

The authors performed nerve conduction studies in nine PARK2 and eight idiopathic Parkinson disease patients and found a significant reduction of sural sensory nerve action potential (SNAP) amplitude in eight PARK2 patients who mostly remained asymptomatic. These data suggest that sensory axonal neuropathy may be a common clinical feature of PARK2 and a reduced amplitude of sural SNAP could be a diagnostic indicator of PARK2.

Teratocarcinosarcoma of the nasal cavity. Report of a case showing favorable prognosis.

We report a very rare case of teratocarcinosarcoma of the nasal cavity showing a favorable prognosis. The patient was a 66-year-old man with a mass completely obstructing the right nasal cavity. Subsequently, extirpation of the mass and Denker-Watsuji operation were performed, and the patient was treated with a combination of radiation therapy and chemotherapy. Neither recurrence nor distant metastasis was observed during follow-up lasting 30 months. Histologic examination of the resected mass revealed several tissue elements including columnar and squamous epithelia with atypia, smooth muscle cells with rare mitotic activity, and neuroectodermal tissue. The glandular epithelium and smooth muscle cells were reminiscent of a primitive intestinal organoid structure, suggestive of teratomatous tumorigenesis. Our case and a review of the literature indicate that the absence of invasiveness to the stroma or surrounding tissue is closely related to a favorable prognosis.

Cytology of microcystic meningioma in crush preparation.

Microcystic meningioma is a rare variant of meningioma, showing microcystic formations throughout the tumor. To the best of our knowledge, there have been no reports describing cytologic findings of microcystic meningioma. Our case was a 66-yr-old woman with a tumor mass adhered to the dura matter. The crush preparations of a small tissue fragment resected from the mass showed medium- to large-sized, well-cohesive clusters or sheets of uniform tumor cells. The tumor cells did not show a feathering-off pattern. Various-sized cystic spaces were observed within the clusters and sheets. The cytoplasm was relatively abundant, and the nuclear:cytoplasmic ratio was lower than that of classic meningioma. We believe that the cystic spaces within the cell clusters or sheets are characteristic of microcystic meningioma. The cytology of microcystic meningioma seen in our case was similar to that of metastatic adenocarcinoma, but relatively monotonous bland cells, smooth nuclear outline, and inconspicuous nucleoli led us to the diagnosis of meningioma rather than adenocarcinoma.

Nasal NK/T cell lymphoma presenting as transverse myelopathy.

A case of nasal NK/T cell lymphoma with central nervous system (CNS) involvement is reported. A 56-year-old man presented with eyelid edema and transverse myelopathy. Cerebrospinal fluid examination revealed atypical lymphoid cells with azurophilic granules, which were positive for CD2, CD8, and CD56, and negative for CD3 and CD5 by flow cytometry. Because a tumor mass was found involving the ethmoid and maxillary sinuses, CNS involvement was considered to have resulted from local invasion by the nasal lymphoma. In spite of intensive chemotherapy including intrathecal infusion, the patient died 6 months after the initial diagnosis. Autopsy revealed that lymphoma cells were positive for cytotoxic molecules, granzyme B and TIA-1, and EB virus-encoded RNA-1 (EBER-1), and they showed no rearrangement of TCR-beta, -gamma, or -delta genes, suggesting an NK-cell origin of the lymphoma cells. They showed an angiocentric and angiodestructive pattern in the subarachnoid space, focally extending to the cerebral cortex and cranial and spinal nerve roots. Marked demyelination was found in the lateral and posterior funiculi of the spinal cord. Thus, the pathogenesis of this spinal demyelination might be attributed to ischemia secondary to angiocentric and angiodestructive infiltration by lymphoma cells.

[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)].

A 51-year-old woman with autosomal dominant inheritance presented with finger tremor, atrophy of the dorsal interosseous muscles, and pes cavus. No muscular atrophy was noted in either leg. The deep tendon reflexes were only present for the biceps muscle of the arm, although they were decreased. Progression was extremely slow. Biopsy of the sural nerve revealed onion bulbs. The patient was diagnosed as a case of Roussy-Lévy syndrome. Her father and son had same symptoms. Typical Charcot-Marie-Tooth disease type 1A (CMT 1A) was also detected in the same family. All 4 cases revealed duplication of the PMP22 gene. In view of the molecular genetic findings, her Roussy-Lévy syndrome was considered to resemble CMT 1A.

Encephalocele with an area mimicking giant cell fibroblastoma. Case report.

We report a unique case of encephalocele with an area mimicking giant cell fibroblastoma. A 4-month-old boy had been born with a parietal midline mass of the head, measuring 3x3x1.5 cm. Microscopically, it consisted of fibrous connective tissue and brain tissue. The fibrous tissue revealed spindle cells and multinucleated giant cells lining sinusoid-like spaces. This area was reminiscent of giant cell fibroblastoma. These cells were immunopositive for vimentin and negative for CD34. The giant cell fibroblastoma-like lesion in our case seems to be non-neoplastic and hamartomatous, and we think that the immunohistochemistry using CD34 is useful for differentiating the two lesions.

Interleukin-3 and interleukin-3 receptors in the brain.

We have previously demonstrated that interleukin 3 (IL-3) has a neurotrophic effect on central cholinergic neurons and have demonstrated the presence of IL-3 receptor (IL-3R)beta subunits in septal cholinergic neurons by reverse-transcribed polymerase chain reaction (RT-PCR) and immunohistochemistry. In order to confirm that the expressed IL-3R is functional, we conducted experiments to show an alpha subunit of IL-3R. The alpha subunit was clearly demonstrated by RT-PCR in the central cholinergic neuronal hybrid cell line SN6, but not in its mother cell line N18TG2, and the expression was slightly upregulated after IL-3 treatment. Choline acetyltransferase and vesicular acetylcholine transporter mRNAs were significantly increased in SN6 after treatment with IL-3. Immunohistochemically, IL-3R alpha-positive cells were mainly present in the medial septal and basal forebrain region, and the stained cells were similar to choline acetyltransferase-positive cells in shape and distribution. The IL-3R alpha-positive cells slightly increased two days after fimbria-fornix transection and decreased seven days after. These findings suggest that functional IL-3 receptors are expressed in the central cholinergic neurons and contribute to some physiological roles such as the differentiation and maintenance of these neurons.

Oligodendroglioma with signet-ring cell morphology: a case report with an immunohistochemical and ultrastructural study.

A case of oligodendroglioma with signet-ring cell (SRC) morphology arising in the right thalamic region in a 12-year-old boy is described. Histopathologically, the tumor was a composite neoplasm consisting of typical oligodendroglioma and anaplastic components with aggregates of SRC. Immunohistochemically the SRC were negative for glial fibrillary acidic protein (GFAP) but surrounded by GFAP-positive anaplastic cells with high-grade nuclear features. Typical oligodendrogliomatous components were negative for GFAP. The Ki-67 labeling index evaluated with MIB-1 antibody was 1.3% in the SRC component, 9.2% in the GFAP-positive anaplastic cell component, and 0.8% in the typical oligodendrogliomatous component. Ultrastructurally, the cytoplasm of the SRC was filled with irregularly and widely dilated cisternae of rough endoplasmic reticulum containing granular material. Intermediate filaments and a small number of other organelles were distributed in the perinuclear and peripheral areas. Both the SRC and anaplastic cells had slender cytoplasmic processes, although those of the SRC were short and few in number. These findings are distinct from those of SRC hitherto described in oligodendrogliomas to date, and suggest that there is a morphological heterogeneity in SRC rarely seen in oligodendrogliomas and that some examples of SRC are related to the anaplastic cells with astrocytic features in their origin.

Magnetic resonance imaging of non-specific inflammatory granulation involving the skull base--two case reports.

A 55-year-old male presented with a 20-day history of nuchal pain and hypoglossal nerve paresis on the right. T2-weighted magnetic resonance (MR) imaging showed an isointense lesion with a small hypointense part in the hypoglossal canal and caudal clivus. A 66-year-old female presented with a long-standing history of left orbital pain. T2-weighted MR imaging showed a hypointense lesion occupying the orbital apex which on recurrence became isointense. The histological diagnosis of both lesions was non-specific inflammatory granulation. The T2-weighted MR imaging appearance of this entity is variable, and can change within the clinical course of the same lesion.

[A case of mononeuropathy multiplex associated with anti-GM1 and -SGLPG antibodies in a patient with ongoing Hashimoto disease].

We reported a case of mononeuropathy multiplex associated with anti-GM1 and -SGLPG antibodies in a patient with ongoing Hashimoto disease. A 56-year-old woman was admitted with asymmetrical patchy sensory and motor disturbance in the extremities. Muscle atrophy and weakness in the left palm and bilateral tibialis anterior muscles were also noted. Deep tendon reflexes were normal in all the extremities. Superficial and deep sensations were reduced in the hands and feet bilaterally, and the distribution of sensory loss was irregular. Her serum was positive for antinuclear antibody, rheumatoid factor, anti-RNP antibody, and anti-SS-A antibody. Serial electrophysiological studies suggested that the predominant process was axonal degeneration of the sensorimotor nerves. On sural nerve biopsy, there were no findings of vasculitis but severe axonal degeneration was observed. Thin-layer chromatography with immunostaining revealed anti-GM1 and -SGLPG antibodies. Treatment with corticosteroids was successful. In this case, the anti-GM1 antibody may have played a role in the pathogenesis of mononeuropathy multiplex associated with autoimmune disease.

MRI in carcinomatous encephalitis.

We report a rare case of miliary brain metastases presenting with symptoms similar to encephalitis ("carcinomatous encephalitis"). Contrast-enhanced MRI demonstrated miliary metastases more distinctly than other imaging methods and reproduced the pathological features.

[Axonal motor neuropathy associated with anti-SGPG antibody].

We report a case of axonal motor neuropathy associated with anti-sulfated glucuronic paragloboside (SGPG) antibody which has not been reported yet. A 49-year-old man was admitted with asymmetrical patchy weakness which started in his upper extremities. The deep tendon reflexes were absent in the upper extremities, but normal in the lower extremities. There was a slight decrease in the vibratory sensation in the distal portions of the lower extremities. The general laboratory tests including the protein level of the cerebrospinal fluid revealed no abnormalities. Motor conduction studies showed the low amplitudes of CMAP and no demonstrable conduction block in the limbs. Sensory conduction studies showed no abnormalities except for slightly decreased amplitude of SNAP in the limbs. Electromyography showed active denervation in the upper extremities. Serial electrophysiological studies suggested that the predominant process was axonal degeneration of the motor nerves. Thin-layer chromatography with immunostaining showed that his serum IgM reacted with SGPG. Treatment with cyclophosphamide and corticosteroids was unsuccessful. In this case, this anti-SGPG antibody may be involved in the pathogenesis of chronic axonal degeneration of the motor nerves.

Epstein-Barr virus-associated post-transplant primary smooth muscle tumor of the liver: report of an autopsy case.

Epstein-Barr (EB) virus-associated primary smooth muscle tumors have been reported in immunosuppressed young patients with acquired immunodeficiency syndrome (AIDS) and young people who have undergone liver transplantation. An autopsy case of EB virus-associated smooth muscle cell tumor in a 21 year old female who received immunosuppressive therapy following renal transplantation is reported. Multiple tumor nodules were present in the liver, but no primary lesion was found in any other organ. Histologically, the nodules were composed of spindle cells, positive for alpha-smooth muscle actin, which were arranged in fascicles and closely associated with vascular channels, thereby suggesting a vascular smooth muscle cell origin. EB virus infection of the tumor cells was clearly demonstrated by in situ hybridization with an EB virus-encoded RNA 1 (EBER-1) probe. The present case illustrates that EB virus infection may play some role in the development of smooth muscle tumors not only in immunocompromised young patients with liver allografts, but also in those with renal allografts.

[HTLV-I-associated neuropathy].

A 70-year-old man was admitted to our hospital because of a 15-year history of walking difficulty, disturbance of sensation in the palm for 2 years and hand tremor for 6 months. On admission, the scapulohumeral muscles showed fasciculation and atrophy. There was action tremor in the upper limb, and the proximal lower limb showed atrophy and weakness. Standing and walking were impossible. Deep tendon reflexes were decreased in lower limbs. Pathologic reflexes were not found. There was distal dominant sensory disturbance, and urination was difficult. Needle EMG showed a neurogenic pattern in 4 all limbs. MCV and F-latency were delayed. SCV in the median nerve and the amplitude in the sural nerve were decreased. Biopsy of the sural nerve revealed both axonal change and demyelination. Biopsy of the quadriceps femoris muscle showed neurogenic change with helper T-cell infiltration. Anti-HTLV-I antibody and ATL-like cells in both blood and CSF were positive. There were HTLV-I provirus DNA with a polyclonal pattern and the type of HLA as HAM. The HTLV-I infection was of the HAM type. As the present patient showed mainly neuropathy without pyramidal signs, was not considered to have HAM.

Magnetic resonance imaging and histology of a large cystic meningioma--case report.

A 9-year-old boy presented with a meningioma containing a large cyst. Magnetic resonance (MR) imaging demonstrated tumor cells in the solid part of the tumor, part of the cyst wall, and cyst septum. The presence of the tumor cells in the thin cyst wall or the cyst septum is important to recognize preoperatively, and MR imaging is very useful to differentiate intratumoral cysts from peritumoral cysts in meningiomas.

[Diagnostic neuropathology supported by immunohistochemistry].

There are various histological components in the central nervous system. When making a neuropathological diagnosis, it is difficult to identify each component. Recently, with the adoption of immunohistochemistry in diagnostic neuropathology, the identification of each component has become relatively easy. Immunohistochemistry is a useful method for staining objective tissues or cells employing the antigen-antibody reaction. Its specificity is very high. In the field of diagnostic neuropathology, immunohistochemical techniques have developed in the diagnosis of brain tumors. With the aid of immunohistochemistry, various findings have been obtained. At the present time, however, the number of available antibodies is rather restricted. As a result, accurate differentiation of microglia and brain macrophage is difficult, and the origin and definition of microglia and brain macrophages are controversial. In the near future, with further progress in immunohistochemical techniques, the number of antibodies will rapidly increase and their sensitivity should improve. When this is achieved, it will be possible to elucidate the pathophysiology of the central nervous system morphologically.

Central diabetes insipidus caused by nonspecific chronic inflammation of the hypothalamus: case report.

A case of central diabetes insipidus (DI) caused by non-specific chronic inflammation of the hypothalamus was reported. As the central DI was associated with acute posterior multifocal placoid pigment epitheliopathy with an immunogenic predisposition, and human leukocyte antigen class I antigen A2 and class II antigen DR4 were found, it might be a case of autoimmune reaction.

Magnetic resonance imaging of ecchordosis physaliphora--case report.

A rare case of ecchordosis physaliphora clearly demonstrated by magnetic resonance (MR) imaging is described in a 48-year-old male who presented with right hearing disturbance and reduction in sensation in the right side of his face due to a large cystic schwannoma. MR imaging revealed the large cystic schwannoma as well as an abnormal clival lesion. The clival lesion was hypointense on T1-weighted images and hyperintense on T2-weighted images, and not enhanced by gadolinium-diethylenetriamine-penta-acetic acid (Gd-DTPA) administration. The clival lesion was partially removed. The histological diagnosis was ecchordosis physaliphora. The postoperative course was uneventful. The absence of enhancement of ecchordosis physaliphora by Gd-DTPA administration may be a characteristic finding, in contrast to chordoma which is generally enhanced.