Résumé
Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient.
Sujets)
Humains , Exome , Troubles neurologiques de la marche , Main , Lipodystrophie généralisée congénitale , Argent , Paraplégie spasmodique héréditaireRésumé
Kimura's disease is a rare chronic inflammatory disorder mimicking a malignant tumor. It usually occurs in the head and neck regions, but occasionally shows up in the groin. A gray-scale groin sonograph showed a lobulated hypoechoic mass. Color Doppler sonography revealed the paucity of blood vessels within the mass.
Sujets)
Vaisseaux sanguins , Aine , Tête , CouRésumé
Authors experienced intra-root cavernous angioma which is very rare case among cavernous angiomas of cauda equina. Our intra-root cavernous angioma was confirmed by findings from operating field and microscopic examination. We report this case with review of the literature.
Sujets)
Queue de cheval , Grottes , Hémangiome caverneuxRésumé
A case of a papillary thyroid carcinoma presenting as a cystic lateral neck mass is reported. A 73-year-old woman presented with a painless swelling of the right side of the neck which had been noticed for 60 years. The soft tissue mass was clinically and sonographically thought to be branchial cleft cyst. However, excisional biopsy showed it to be a cystic lymph-node metastasis from a papillary thyroid carcinoma. Two weeks later, a total thyroidectomy was performed, but no malignant lesion was found in the thyroid. This case of a metastatic papillary thyroid carcinoma to the lateral neck node mimiced a branchial cleft cyst. In old age, a lateral neck cyst being a cystic metastasis, as well as a benign cyst, should be considered so a careful preoperative evaluation is neccessary.
Sujets)
Sujet âgé , Femelle , Humains , Biopsie , Kyste branchial , Cou , Métastase tumorale , Glande thyroide , Tumeurs de la thyroïde , ThyroïdectomieRésumé
A case of a papillary thyroid carcinoma presenting as a cystic lateral neck mass is reported. A 73-year-old woman presented with a painless swelling of the right side of the neck which had been noticed for 60 years. The soft tissue mass was clinically and sonographically thought to be branchial cleft cyst. However, excisional biopsy showed it to be a cystic lymph-node metastasis from a papillary thyroid carcinoma. Two weeks later, a total thyroidectomy was performed, but no malignant lesion was found in the thyroid. This case of a metastatic papillary thyroid carcinoma to the lateral neck node mimiced a branchial cleft cyst. In old age, a lateral neck cyst being a cystic metastasis, as well as a benign cyst, should be considered so a careful preoperative evaluation is neccessary.
Sujets)
Sujet âgé , Femelle , Humains , Biopsie , Kyste branchial , Cou , Métastase tumorale , Glande thyroide , Tumeurs de la thyroïde , ThyroïdectomieRésumé
This is to report the histo-pathologic findings of the degenerated inferior alveolar nerves(IAN) causing uncontrollable neuralgia persisted for over 3 years. The patients had sufferred from frequent attack of unbearable pain along the mandibular branches of the Vth nerve. The pain arised spontaneously 5-10 times a day and lasted for 2-5 minutes. The medications including Tegretol were neither so effective to alleviate the pain level, nor enough to keep free from pain all days. The peripheral neurectomies were preceded by diagnostic nerve block, and partial resection of the IAN in the mandibular canals were approached by sagittal split osteomy of the ramus. The histopathologic findings of the resected IAN were as follows ; 1. Special staining with Luxol Fast Blue (LFB) and Masson Trichrome (MT) disclosed marked degeneration of the axons, decreased in number and fibrosis between the nerve fibers. 2. EM study revealed destruction of myelin continuity surrounding axons, degeneration of Schwann cell and endoneureal sheath, and coarse collagen between the destructed axons. 3. The 3 of 6 patients presented again with recurred pain in 2-3 years after the peripheral neurectomies. Excisional biopsy of the retromolarpterygomandibular softtissues disclosed the collateralization neuropathy beside the long-buccal nerves and their neuromatous findings.
Sujets)
Humains , Axones , Biopsie , Carbamazépine , Collagène , Fibrose , Nerf mandibulaire , Gaine de myéline , Bloc nerveux , Neurofibres , Névralgie , Névralgie essentielle du trijumeauRésumé
Three cases of subacute necrotizing lymphadenitis diagnosed by fine needle aspiration(FNA) of enlarged lymph nodes are reported. The FNA smears contained randomly activated lymphoid cells, necrotic debris and histiocytes. The same patterns were found in subsequently examined excised lymph nodes from these cases. The differential diagnosis of this entity is discussed and the value of preparing FNA cell blocks and accompanying AFB stain with culture is emphasized.