We experienced a case of a 38 year old women in whom an alpha-fetoprotein producing carcinoma originated in the rectum. The patient had symptoms of hematochezia and bowel habit change, and a rectal examination revealed an ulcerative mass at the midrectum. The mass size was 6.5 cm 6 cm. The serum alpha-fetoprotein measured preoperatively was 9336 ng/ml, and the serum (carcinoembryonic antigen) was 6.4 ng/ml. The serum level of alpha-fetoprotein decreased to 830 ng/ml thirteen days after a low anterior resection. The tumor mass was a poorly differentiated adenocarcinoma. Using an immunohistochemical staining method, we detected alpha-fetoprotein producing cells in the tumor mass. During the follow up, the serum alpha-fetoprotein level began to increase continuously, and an abdomin opelvic CT scan showed a systemic, local tumor recurrence. Based on our experience with this patient and a review of the literature on the few cases previously reported, it seems that alpha-fetoprotein producing colorectal carcinamas have a tendency to produce frequent blood-borne metastasis and are associated with a poor prognosis.
Adenocarcinoma ; Adult ; alpha-Fetoproteins* ; Colorectal Neoplasms ; Female ; Follow-Up Studies ; Gastrointestinal Hemorrhage ; Humans ; Neoplasm Metastasis ; Prognosis ; Rectal Neoplasms* ; Rectum ; Recurrence ; Tomography, X-Ray Computed ; Ulcer

No abstract available.

Distal myopathy with rimmed vacuoles is a rare muscle disease and, so far as we know, it has not been reported in Korea as yet. This disorder is known to be inherited as autosomal recessive trait and to have no specific treatment. Hereby, we report 3 patients of distal myopathy with rimmed vacuoles in a family. The clinical characteristics of these patients were slowly progressive symmetrical muscle weakness and wasting of all 4 extremities, worse in distal legs. The pretibial muscles were involved more markedly than the calf muscles. Serum muscle enzymes were increased. The prominent EMG findings were myopathic changes, but reduced recruitment was occasionally found in some distal muscles The muscle biopsies of right biceps brachii muscle were performed in two patients, which showed the characteristic rimmed vacuoles by light microscope. Membranous whorls and randomly oriented intracytoplasmic filaments were found by electron microscope. The severity of pathological abnormalities were related to the clinical status of the patient. One had been treated with steroid(prednisolone) for several years but with no improvement.
Biopsy ; Distal Myopathies* ; Extremities ; Humans ; Korea ; Leg ; Muscle Weakness ; Muscles ; Vacuoles*

BACKGROUND: Recent genetic analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF, which induces the dysfunction of dysferlin. We identified the deficiency of dysferlin by immunohistochemistry and Western blot in four patients with clinically diagnosed MM, and investigated the clinical and pathological characteristics of MM. METHODS: A muscle biopsy was performed in four patients who were diagnosed with MM by clinical and electrophysiological study. Immunostaining of muscle specimens for dyferlin, dystrophin, alpha, beta, gamma, sigma-sarcoglycan, beta-dystroglycan, and caveolin-3 were performed in all four patients. We analyzed the quantitative analysis for dysferlin by Western blot in three of four patients. RESULTS: All four patients showed clinical onset during adolescence or early adulthood (15-26 year old), a slowly progressive course, and a relatively high serum creatine kinase level (2240-6400 IU/L). Routine pathological studies showed non-specific myopathic changes. On immunocytochemistry, there was negative immunoreacticity for dysferlin on muscle specimens in all patients. The immunoreactivities for dystrophin, alpha, beta, gamma, sigma-sarcoglycan, beta-dystroglycan, and caveolin-3 were normal. On Western blotting, complete loss of dysferlin was noted in all three patients with MM CONCLUSIONS: Identification of isolated deficiency of dysferlin on immunocytochemistry or Western blot is important for the confirmative diagnosis of MM.
Adolescent ; Biopsy ; Blotting, Western* ; Caveolin 3 ; Creatine Kinase ; Diagnosis ; Dystroglycans ; Dystrophin ; Humans ; Immunohistochemistry ; Muscular Diseases*

No abstract available.
Brain ; Brain Injuries ; Spinal Cord ; Wallerian Degeneration

We report a 55-year-old man with chronic weakness of both legs with recently experienced nasal voice. Despite the absence of sensory symptoms, electrophysiologic studies revealed the presence of sensorimotor polyneuropathy. A sural-nerve biopsy showed remarkable reduction of large myelinated fibers with prominent remyelination. Intravenous immunoglobulin was administered due to suspected chronic demyelinating neuropathy, but had no effect. Abnormal trinucleotide-repeat expansion of the androgen receptor gene was subsequently detected in both the patient and his family. These observation indicate that prominent remyelinating features are not necessarily indicative of demyelinating neuropathy.
Biopsy ; Bulbo-Spinal Atrophy, X-Linked ; Humans ; Immunoglobulins ; Leg ; Middle Aged ; Myelin Sheath ; Organic Chemicals ; Polyneuropathies ; Receptors, Androgen ; Sural Nerve ; Voice

No abstract available.
Axons ; Hand ; Humans

No abstract available.
Pyramidal Tracts*

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating autoimmune disease of central nervous system characterized by relapsing attacks that target the optic nerves and spinal cord, as well as aquaporin-4 (AQP4) enriched periventricular brain regions. The area postrema (AP), located in the dorsal medulla, is the chemosensitive vomiting center and has high AQP-4 expression. The AP syndrome with unexplained hiccups, nausea, and vomiting is one of the core clinical characteristics in the NMOSD and maybe the first presenting symptom. We experienced a 25-year-old woman presented with intractable vomiting, dizziness and oscillopsia. Upbeat nystagmus detected on the bedside examination led to comprehensive neurological workups including magnetic resonance imaging, and she was diagnosed as the AP syndrome. Ten months later, she experienced a recurrence as a longitudinally extensive transverse myelitis and the diagnosis was finally compatible with NMOSD without AQP4-IgG. NMOSD, especially the AP syndrome, should be considered in any dizzy patient with intractable vomiting, and detailed neuro-otologic and neuro-ophthalmologic examinations are warranted for the correct diagnosis.
Adult ; Area Postrema ; Autoimmune Diseases ; Brain ; Central Nervous System ; Diagnosis ; Dizziness ; Female ; Hiccup ; Humans ; Magnetic Resonance Imaging ; Myelitis, Transverse ; Nausea ; Neuromyelitis Optica ; Nystagmus, Pathologic ; Optic Nerve ; Recurrence ; Spinal Cord ; Vomiting

Congenital muscle fiber type disproportion (CFTD) has been described as a form of congenital myopathy characterized by the smallness and marked predominance of type 1 fibers in a muscle biopsy. Clinical manifestations include hypotonia, nonprogressive muscle weakness, joint contractures, and skeletal deformities. However, it has also been noted that the same pathologic alterations appeared in clinically diverse conditions. Recently, we experienced a family, a mother and two children, in which a muscle biopsy showed the mother to have muscle fiber type disproportion. This case was unusual in that there was a significant progression of weakness, an absence of neonatal hypotonia, and other commonly associated musculo-skeletal deformities. In this report, we describe the clinicopathologic features of the family with a brief review about muscle fiber type disproportion.
Adult ; Biopsy ; Child, Preschool ; Female ; Human ; Male ; Muscle Fibers/pathology* ; Muscular Diseases/pathology ; Muscular Diseases/genetics*