The DYT1 Gene Mutation in Primary Torsion Dystonia without Familial Background

BACKGROUND: The DYT1 dystonia is primary torsion dystonia (PTD) caused by a GAG deletion in DYT1 gene on chromosome 9 and transmits as autosomal dominant trait. It usually begins as limb-onset dystonia in childhood and tends to spread to other sites and has been reported as the most common cause of early onset PTD in Ashkenazi Jews. However, the frequency of DYT1 mutation in Korean patients with sporadic PTD has not been reported. METHODS: We examined dystonia patients who visited the Neurologic Clinic of Asan Medical Center between Jan 2001 and March 2002. The sporadic PTD patients of them were screened by genotyping with their peripheral blood samples. RESULTS: The 66 patients with sporadic PTD were recruited and two of them showed DYT1 mutation on Chromosome 9. One patient had segmental dystonia with cervical onset; the other had generalized dystonia with left leg onset. None of the patients with focal dystonia showed a DYT1 mutation. CONCLUSIONS: The DYT1 dystonia comprise a small portion of PTD without familial history in Korea. The DYT1 gene test should be considered in the early-onset or spreading type dystonia despite the absence of familial background in primary dystonia patient.

A case of chemical pneumonitis induced by hydrocarbon ingestion / 대한내과학회지

Chemical pneumonitis induced by hydrocarbon ingestion is rare in Korea. Cresol and xylenol, commonly used hydrocarbon disinfectants, can cause chemical burn on skin, gastrointestinal corrosive injury, central nervous system disturbance, and multiorgan failure including acute respiratory failure and chemical pneumonitis following intoxication1, 2, 8). We will report a case of chemical pneumonitis induced by ingestion of a hydrocarbon disinfectant as suicidal attempt.A 39-years-old female was found unconscious after ingestion of 100-200mL of solution containing cresol (5.5 g/100 mL), xylenol (7.5 g/100 mL), and benzene (37.5 g/100 mL).Upon arriving at emergency room the patient was in coma, had undectable blood pressure (0/0) and had no self respiration. Cardiopulmonary resuscitation were given immediately, resulting in reversed her consciousness and elevated blood pressure.The patient had dermal burn on face, erosion of oral and gastric mucosa, impairment of liver function, leukocytosis, metabolic acidosis with hypoxemia, chemical pneumonitis, and spontaneous pneumothorax. The patient survived after artificial ventilation, intensive general supportive treatment and wound care. She was discharged in relatively good clinical condition with minimal sequele.

A Case of High Degree AV Block Treated by Implantation of Permanent Pacemaker in Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy is characterized by 1) early contractures of the elbows, Achilles tendons, and postcervical muscles, 2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages, and 3) cardiomyopathy with conduction defects and risk of sudden death. The inheritance is usually X-linked recessive but can be autosomal dominant and recessive. We report a case of 28-year old woman who presented with dizziness, palpitation, and progressive muscular weakness. Her ECG revealed high degree AV block and muscle biopsy demonstrated diffuse degenerative change consistent with Emery-Dreifuss muscular dystrophy. She was diagnosed as autosomal dominant Emery-Dreifuss muscular dystrophy by characteristic clinical features, and findings of ECG, nerve conduction test, electromyography and muscle biopsy findings. A VVI-type permanent pacemaker was implanted.

A Case of Renal Oncocytomatosis with Chronic Renal Failure / 대한신장학회잡지

Renal oncocytomas account for approximately 5% of renal parenchymal tumors. Usually it has unilateral solitary oncocytic nodule, but bilateral multifocal renal oncocytomasis is rare. The term renal oncocytoma should be used to characterize a well-differentiated renal epithelial tumor with eosinophilic granular cytoplasm that has benign behavior and favourable progress. Also, multiple oncocytoma distributed diffusely in both kidneys is termed renal oncocytomatosis Because of the benign nature, multicentricity, possible bilaterality and absence of pathognomonic radiographic features, renal oncocytomas should be considered in differential diagnosis of solid masses, especially renal cell carcinoma. We report a patient with bilaleral multifocal renal oncocytomatosis, who had progressive renal failure. Renal oncocytomatosis was diagnosed pathologically after bilateral nephrectomy.