Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic face, and frequent respiratory insufficiency. Four genes have been reported to be associated with the disease: TPM2, TPM3, ACTA1, and NEB. Here we describe that a patient presenting with mild limb weakness with facial affection showed cap structures on muscle pathology and carried a heterozygous TPM3 mutation.
Extremities ; Humans ; Muscle Weakness ; Muscular Diseases* ; Mutation, Missense* ; Myofibrils ; Pathology ; Respiratory Insufficiency ; Sarcolemma ; Tropomyosin

PURPOSE: Occult papillary thyroid carcinomas (OPC) are defined as tumors measuring <15 mm. These tumors are believed to be a less aggressive subset of papillary cancers. They generally behave more like benign lesions and are often more conservatively treated. However, it is unclear if a cancer 1.0 to 1.5 cm in diameter will have a similar favorable clinical behavior as tumors <1.0 cm (micropapillary thyroid carcinoma). Therefore, a retrospective chart review study of patients with OPC in order was carried out in order to answer this question and characterize the biology and optimal treatment for OPCs. METHODS: From October 2001 to January 2007, Among the impalpable thyroid nodules detected incidentally during screening examinations, 260 patients underwent surgery for occult papillary thyroid cancer (OPC) at Kangnam Cha University hospital. The data from these patients was analyzed retrospectively. The mean follow up period was 25.6 +/- 14.5 (max: 63, min: 1) months. RESULTS: The mean age of these patients was 42.8 years, and 233 (89.5%) were female. 46.2% of patients underwent a total or neartotal thyroidectomy, and 54.6% underwent a central lymph node dissection. Of the 260 patients, 55 (21.2%) had lymph node metastases. The OPC presented with signs of aggressiveness including multifocality (34.2%), bilaterality (17.7%), capsular invasion (52.7%), and lymph node metastases (21.2%). A progressively increasing frequency of the signs of tumor aggressiveness was observed with increasing tumor size at presentation. LN metastases were associated with the tumor size (P=0.0063), extracapsular invasion (P=0.0015) and multfocallity (P=0.0020). However, there was no association with age and gender. With a follow-up of up to 63 months, 3 patients had a local recurrence (0.014%). No patients currently have active disease and no patients with OPC died during this period. CONCLUSION: In OPC patients, there is a progressively increasing frequency of the signs of tumor aggressiveness with increasing tumor size. Moreover, a small size itself cannot guarantee low risk and low recurrence rate. The prevalence of LN metastases and extracapsular invasion were higher in those with a tumor size >0.5 cm. A near-total or total thyroidectomy with a central lymph node dissection is the preferred treatment. The early detection and treatment of OPC might be warranted through the routine use of thyroid USG and USG-guided FNA.
Biology ; Female ; Follow-Up Studies ; Humans ; Lymph Node Excision ; Lymph Nodes ; Mass Screening ; Neoplasm Metastasis ; Prevalence ; Recurrence ; Retrospective Studies ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroid Nodule ; Thyroidectomy

BACKGROUND: Hashimoto's encephalopathy (HE) and anti N-methyl-D-aspartate receptor (NMDAR) encephalitis have clinical overlaps. CASE REPORT: A 70-year-old woman presented with acutely developed confusion, disorientations and psychosis. HE was suspected based on goiter, markedly elevated anti-thyroglobulin and anti-thyroid peroxidase antibody. She was placed on high dose steroid and intravenous immunoglobulins administration, which did not ameliorate her symptoms. After the antibodies to the NMDAR were identified, weekly 500 mg of rituximab with 4 cycles were started. The current followed up indicated a complete recovery. CONCLUSIONS: The possible associations between NMDAR antibody and autoimmune thyroid antibodies in anti-NMDAR encephalitis with positive thyroid autoantibodies remain unclear. However, a trend toward a higher incidence of NMDAR antibody in patients with autoimmune thyroid antibodies than without has been observed. Cases of encephalitis with only NMDAR antibody (pure anti-NMDAR encephalitis) also occur. Therefore, it is important for clinicians to know the clinical and pathogenic differences between anti-NMDAR encephalitis with positive thyroid autoantibody and pure anti-NMDAR encephalitis for relevant treatment, predicting prognosis, and future follow-up.
Aged ; Anti-N-Methyl-D-Aspartate Receptor Encephalitis* ; Antibodies ; Autoantibodies ; Encephalitis ; Female ; Follow-Up Studies ; Goiter ; Humans ; Immunoglobulins, Intravenous ; Incidence ; N-Methylaspartate ; Peroxidase ; Prognosis ; Psychotic Disorders ; Thyroid Gland* ; Rituximab

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.
Autopsy* ; Diagnosis ; Frontotemporal Dementia* ; Frontotemporal Lobar Degeneration ; Humans ; Korea ; Motor Neuron Disease* ; Motor Neurons* ; Neurites ; Pathology

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.
Autopsy* ; Diagnosis ; Frontotemporal Dementia* ; Frontotemporal Lobar Degeneration ; Humans ; Korea ; Motor Neuron Disease* ; Motor Neurons* ; Neurites ; Pathology