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1.
Korean Journal of Pediatrics ; : 1223-1226, 2006.
Article Dans Anglais | WPRIM | ID: wpr-19354

Résumé

Sideroblastic anemia is a rare, heterogeneous group of disorders characterized by hyperferremia, microcytic hypochromic anemia, and bone marrow erythroid hyperplasia with the presence of numerous ringed sideroblasts. We describe herewith the case of a rare coincidence of sideroblastic anemia and mitral valve prolapse with resultant regurgitation in a 2-year-old boy. In addition to the inherent propensity for the development of cardiac dysfunction in sideroblastic anemia due to transfusion-associated myocardial iron overload and chronic anemia, a coincidence of MVP will further increase the likelihood of the morbidity or mortality of th patient. in this patient. After response to pyridoxine, the patient remains in good condition with stable hemoglobin levels.


Sujets)
Enfant d'âge préscolaire , Humains , Mâle , Anémie , Anémie hypochrome , Anémie sidéroblastique , Moelle osseuse , Hyperplasie , Surcharge en fer , Prolapsus de la valve mitrale , Valve atrioventriculaire gauche , Mortalité , Pyridoxine
2.
Korean Journal of Pediatrics ; : 1329-1339, 2006.
Article Dans Coréen | WPRIM | ID: wpr-157934

Résumé

PURPOSE: Failure of hematopoietic stem cell transplantation(HSCT) may be encountered in practice because of either relapse of the malignancy or dysfunction of the graft. Second HSCT may be the only option for some patients whose initial HSCT failed. METHODS: From May, 1991 to December, 2004, 115 HSCTs were performed at the Pediatric Blood & Marrow Transplantation Center, Chonnam National University. This study was a retrospective analysis of the medical records of 15 patients who received the second HSCT after initial graft. RESULTS: Among eight patients with nonmalignant diseases, two patients underwent the second HSCT because of primary graft failure and five because of late graft rejection. The remaining Fanconi anemia patient was re-transplanted due to development of AML. Two patients died and one experienced primary graft failure, but is still alive. The Kaplan-Meier 5-year overall survival rate was 75 percent and the disease free survival rate was 62.5 percent in nonmalignant diseases. All malignant patients underwent second transplants because of relapses. Four died of relapse and one of treatment-related complications. The Kaplan-Meier 2-year overall and event free survival rate was 28.6 percent each in malignant diseases. CONCLUSION: Second HSCT for graft dysfunction of nonmalignant disease seems to be feasible and should be considered as a standard practice. The relapse of malignant diseases remains a big obstacle even after the second HSCT, although a small portion of patients might be salvaged. Further investigation of novel therapeutic strategies, as well an the understanding of the biology should be explored.


Sujets)
Humains , Biologie , Moelle osseuse , Survie sans rechute , Anémie de Fanconi , Rejet du greffon , Transplantation de cellules souches hématopoïétiques , Cellules souches hématopoïétiques , Dossiers médicaux , Récidive , Études rétrospectives , Taux de survie , Transplants
3.
Journal of the Korean Neurological Association ; : 508-511, 2000.
Article Dans Coréen | WPRIM | ID: wpr-197459

Résumé

Myasthenia gravis has been associated with a variety of autoimmune diseases, but the association of myasthenia gravis with idiopathic thrombocytopenic purpura has been rarely reported. A previously healthy 33-year-old female presented with a 10-month history of easy fatigability, motor weakness, diplopia and menorrhage. Clinical and labora-tory findings supported the diagnosis of myasthenia gravis and idiopathic thrombocytopenic purpura. After a thymecto-my, there were surprising improvements not only in muscle strength, but also of thrombocytopenia. Though this associ ?ation may be incidental, the patient's progress suggests that idiopathic thrombocytopenic purpura may be closely relat-ed to myasthenia gravis immunologically because both diseases developed simultaneously and showed good therapeu-tic responses after a thymectomy.


Sujets)
Adulte , Femelle , Humains , Maladies auto-immunes , Diagnostic , Diplopie , Force musculaire , Myasthénie , Purpura thrombopénique idiopathique , Thrombopénie , Thymectomie
4.
Journal of the Korean Neurological Association ; : 494-498, 2000.
Article Dans Coréen | WPRIM | ID: wpr-146843

Résumé

A 7 year-old girl presented with generalized muscle weakness and delayed motor development. She was able to stand up at 15 months and began to walk at 4 years of age. A nerve conduction study showed severe demyelinating neuropa-thy .There was no family history of peripheral neuropathy, and her parents and younger brother were clinically and electrophysiologically normal. A sural nerve biopsy showed moderate loss of myelinated fibers with onion-bulb forma-tions. Many teased nerve fibers revealed typical tomaculous changes. However the molecular genetic study of the patient confirms the duplication of 17p11.2-p22 on a polymerase chain reaction using D17S261 as a primer but not in her parents.


Sujets)
Enfant , Femelle , Humains , Biopsie , Maladie de Charcot-Marie-Tooth , Génotype , Biologie moléculaire , Faiblesse musculaire , Gaine de myéline , Neurofibres , Conduction nerveuse , Parents , Neuropathies périphériques , Phénotype , Réaction de polymérisation en chaîne , Fratrie , Nerf sural
5.
Journal of the Korean Neurological Association ; : 735-740, 1999.
Article Dans Coréen | WPRIM | ID: wpr-105596

Résumé

Subacute sensory neuropathies associated with primary Sjogren's syndrome have been reported rarely. We describe a woman with primary Sjogren's syndrome who developed a widespread, pure sensory neuropathy with a subacute onset. An electrophysiological study showed the typical absence or decreased amplitude of sensory nerve action potentials (SNAPs). A sural nerve biopsy showed a loss of large myelinated fibers and axonal degeneration without inflammation. The clinical course of long-standing subacute sensory neuropathy, the biopsy-documented axonal degeneration, and the neurophysiological findings suggest involvement of the dorsal root ganglia.


Sujets)
Femelle , Humains , Potentiels d'action , Axones , Biopsie , Ganglions sensitifs des nerfs spinaux , Inflammation , Gaine de myéline , Neuropathies périphériques , Syndrome de Gougerot-Sjögren , Nerf sural
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