We report a case of rabbit syndrome in a 28-year-old man with chronic active epilepsy and mental retardation. He developed fine and rhythmic perioral involuntary movements with mild parkinsonism several months after he had been administered with neuroleptics. His movements had a rhythmic pattern consisting of 2-3 Hz with a resting period for 1- 2 seconds. They were remarkably reduced with benztropine. Parkinsonism also improved with benztropine.
Adult ; Antipsychotic Agents ; Benztropine ; Dyskinesias ; Epilepsy ; Humans ; Intellectual Disability ; Parkinsonian Disorders

Nonconvulsive status epilepticus (NCSE) of frontal origin is rare. The symptoms are unusual and different from that of temporal origin which makes it difficult to be diagnosed. We report two cases with NCSE of frontal origin. The first case was a 17-year-old girl who presented indifference and reduced word fluency, responsiveness, and facial expres-sion daylong with intermittent unresponsiveness and slight rightward eye and head deviations. Confusion was not noted. Electroencephalogram (EEG) showed the recurrent 2 Hz spike-wave ictal discharges on the left frontal area, sometimes spreading to the opposite side. The second case was a 57-year-old woman who had a medically intractable epilepsy. During long-term Video/EEG monitoring, the continuous 2 Hz spike-and-wave complexes were noted on the right hemisphere and the left frontal area. At that time, neurological examination including cognitive functions was normal except for a mild jaw tremor. No confusion was noted. However, she looked depressed, inactive, and affectively indifferent. Intravenous lorazepam injection abolished status EEG activities as well as clinical symptoms. Ictal single photon emission computed tomography (SPECT) showed an increased perfusion in the right frontal lobe. Cortical dysplasia was pathologically diagnosed after a right frontal lobectomy.
Adolescent ; Electroencephalography ; Epilepsy ; Female ; Frontal Lobe ; Head ; Humans ; Jaw ; Lorazepam ; Malformations of Cortical Development ; Middle Aged ; Neurologic Examination ; Perfusion ; Status Epilepticus* ; Tomography, Emission-Computed, Single-Photon ; Tremor

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR gene resulted in failure of the transport cholesterol into mitochondria for steroidogenesis in the adrenal gland. Twin sisters (A, B) with normal 46, XX were born at 36+2 gestational week, premature to nonrelated parents. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium. Laboratory finding revealed normal 17-hydroxyprogesterone level, elevated adrenocorticotropin hormone (A, 4,379.2 pg/mL; B, 11,616.1 pg/mL), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng mL/hr). However, the level of plasma cortisol before treatment was low (1.5 microg/dL) in patient B but normal (8.71 microg/dL) in patient A. Among them, only patient A was presented with adrenal insufficiency symptoms which was suggestive of CLAH and prompted us to order a gene analysis in both twin. The results of gene analysis of StAR in twin revealed same heterozygous conditions for c.544C>T (Arg182Cys) in exon 5 and c.722C>T (Gln258*) in exon 7. We report the first case on the mutation of p.R182C in exon 5 of the StAR gene in Korea.
17-alpha-Hydroxyprogesterone ; 46, XY Disorders of Sex Development ; Adrenal Glands ; Adrenal Hyperplasia, Congenital ; Adrenal Insufficiency ; Adrenocorticotropic Hormone ; Cholesterol ; Exons ; Genes, vif ; Humans ; Hydrocortisone ; Hyperpigmentation ; Hyperplasia ; Korea ; Mitochondria ; Parents ; Phosphoproteins ; Plasma ; Potassium ; Renin ; Siblings ; Sodium ; Twins

PURPOSE: Lymphedemas are tissue fluid swellings, usually on the arms or legs, and occur as a result of impaired lymphatic drainage. Presently, the most effective treatment available is complete decongestive physiotherapy (CDP). However, this therapy is ineffective in some patients and surgery may be indicated. Herein, we examined the efficacy of minimally invasive needle aspiration of the most enlarged areas in hypodermic adipose tissues, of patients who had failed CDP. METHODS: We included 21 patients who were diagnosed with lymphedema stage II-III in the upper or lower extremities and visited the lymphedema clinic at a university hospital from September 1, 2003 to February 28, 2004. All patients had been treated with CDP at least once, but had failed to respond to the therapy for more than one year. Nine patients had breast cancer and 12 had cervical cancer. We identified the area with the most severe edema by using MRI and performed a 16-gauge angio-needle aspiration on the area. The patients were followed up for 3 months. Effectiveness of the treatment was evaluated by comparing the volume of edema before and after the treatment using Wilcoxon signed rank-test. RESULTS: The mean reduction ratio of the volume of edema comparison normal volume was 41.1+/-35.3% (P=0.001). There were no major or minor operative complications except localized hemorrhage. CONCLUSION: We conclude that a needle aspiration prior to other surgical treatments is relatively safe and effective for those patients who are unresponsive to CDP.
Arm ; Breast Neoplasms ; Cytidine Diphosphate ; Drainage ; Edema ; Hemorrhage ; Humans ; Leg ; Lower Extremity ; Lymphedema ; Needles ; Uterine Cervical Neoplasms

Cryptococcus neoformans commonly causes opportunistic infections in immunocompromised patients, especially in patients with AIDS. CD4+ T-lymphocytopenia in AIDS indicates an increased risk of opportunistic infection and a decline in immunological function. Idiopathic CD4 T-lymphocytopenia (ICL) is characterized by depletions in the CD4+ T-cell subsets, without evidence of HIV infection. Immunodeficiency can exist in the absence of laboratory evidence of HIV infection, and T-cell subsets should be evaluated in patients who present with unusual opportunistic infections. We report a case of pulmonary cryptococcosis and lung cancer in a patient with persistently low CD4+ cell counts, without evidence of HIV infection.
Aged ; CD4 Lymphocyte Count ; CD4-Positive T-Lymphocytes/*pathology ; Carcinoma, Non-Small-Cell Lung/*complications/immunology ; Cryptococcosis/*complications/immunology ; Humans ; Lung Neoplasms/*complications/immunology ; Lymphopenia/*complications/immunology ; Male

X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mutations, insertions, and deletions. Recently, we encountered a 2-year-9-month-old female with sporadic hypophosphatemic rickets. She underwent osteotomy, dental abscess was evident, and there was severe bowing of the legs. A low serum phosphorus level in combination with elevated serum alkaline phosphatase activity and normal serum calcium is suggestive of hypophosphatemic rickets. PHEX gene analysis revealed a splice acceptor site mutation, c.934-1G>T (IVS8-1G>T), at the intron8 and exon9 junction. To the best of our knowledge, this mutation is novel and has not been reported. The results of this study expand and improve our understanding of the clinical and molecular characteristics and the global pool of patients with sporadic hypophosphatemic rickets.
Abscess ; Alkaline Phosphatase ; Calcium ; Codon, Nonsense ; Familial Hypophosphatemic Rickets ; Female ; Humans ; Leg ; Mutation, Missense ; Osteotomy ; Phosphorus ; Rickets, Hypophosphatemic* ; RNA Splice Sites

Purpose: High-dose chemotherapy followed by autologous stem cell transplantation (ASCT) is the standard management for relapsed or high-risk non-Hodgkin’s lymphoma (NHL). We reported the busulfan, melphalan, and etoposide (BuME) conditioning regimen was effective in patients with relapsed or high-risk NHL. Moreover, the busulfan, cyclophosphamide, and etoposide (BuCE) conditioning regimen has been used widely in ASCT for NHL. Therefore, based on these encouraging results, this randomized phase II multicenter trial compared the outcomes of BuME and BuCE as conditioning therapies for ASCT in patients with NHL. Materials and Methods: Patients were randomly assigned to receive either BuME (n=36) or BuCE (n=39). The BuME regimen was comprised of busulfan (3.2 mg/kg/day, intravenously) administered on days –7, –6, and –5, etoposide (400 mg/m2 intravenously) on days –5 and –4, and melphalan (50 mg/m2/day intravenously) on days –3 and –2. The BuCE regimen was comprised of busulfan (3.2 mg/kg/day intravenously) on days –7, –6, and –5, etoposide (400 mg/m2/day intravenously) on days –5 and –4, and cyclophosphamide (50 mg/kg/day intravenously) on days –3 and –2. The primary endpoint was 2-year progression-free survival (PFS). Results: Seventy-five patients were enrolled. Eleven patients (30.5%) in the BuME group and 13 patients (33.3%) in the BuCE group had disease progression or died. The 2-year PFS rate was 65.4% in the BuME group and 60.6% in the BuCE group (p=0.746). There were no non-relapse mortalities within 100 days after transplantation. Conclusion There were no significant differences in PFS between the two groups. Therefore, busulfan-based conditioning regimens, BuME and BuCE, may be important treatment substitutes for the BCNU-containing regimens.

We assessed the success rate of empirical antifungal therapy with itraconazole and evaluated risk factors for predicting the failure of empirical antifungal therapy. A multicenter, prospective, observational study was performed in patients with hematological malignancies who had neutropenic fever and received empirical antifungal therapy with itraconazole at 22 centers. A total of 391 patients who had abnormal findings on chest imaging tests (31.0%) or a positive result of enzyme immunoassay for serum galactomannan (17.6%) showed a 56.5% overall success rate. Positive galactomannan tests before the initiation of the empirical antifungal therapy (P=0.026, hazard ratio [HR], 2.28; 95% confidence interval [CI], 1.10-4.69) and abnormal findings on the chest imaging tests before initiation of the empirical antifungal therapy (P=0.022, HR, 2.03; 95% CI, 1.11-3.71) were significantly associated with poor outcomes for the empirical antifungal therapy. Eight patients (2.0%) had premature discontinuation of itraconazole therapy due to toxicity. It is suggested that positive galactomannan tests and abnormal findings on the chest imaging tests at the time of initiation of the empirical antifungal therapy are risk factors for predicting the failure of the empirical antifungal therapy with itraconazole. (Clinical Trial Registration on National Cancer Institute website, NCT01060462)
14-alpha Demethylase Inhibitors/adverse effects/therapeutic use ; Adolescent ; Adult ; Aged ; Antifungal Agents/adverse effects/*therapeutic use ; Aspergillosis/complications/*drug therapy ; Candidiasis/complications/*drug therapy ; Coccidioidomycosis/complications/drug therapy ; Febrile Neutropenia/complications/drug therapy ; Female ; Hematologic Neoplasms/complications/drug therapy/*microbiology ; Humans ; Itraconazole/adverse effects/*therapeutic use ; Male ; Mannans/blood ; Middle Aged ; Prospective Studies ; Treatment Outcome ; Young Adult