Xanthogranulomatous pyelonephritis, an uncommon chronic inflammatory renal disorder of middle-aged women, is rarely seen in childhood. A 10 year-old boy with focal type of this disease in upper and lower pole was experienced. Patient had a intermittent fever and right flank pain without palpable mass. The blood analysis only revealed ESR increase but no anemia, no leukocytosis. There was no history or signs of urinary tract infection or calculi. The urine analysis and culture showed nothing abnormal. An intravenous pyelogram, ultrasonogram, abdominal CT and selective renal arteriography only demonstrated a non functioning upper pole of right kidney. During operation, a gross finding and frozen section strongly showed xanthogranulomatous pyelonephritis and diagnosis was made on histological examination, After nephrectomy, there had been no evidence of disease recurrence during 2 years follow-up period.
Anemia ; Angiography ; Calculi ; Child* ; Diagnosis ; Female ; Fever ; Flank Pain ; Follow-Up Studies ; Frozen Sections ; Humans ; Kidney ; Leukocytosis ; Male ; Nephrectomy ; Pyelonephritis, Xanthogranulomatous* ; Recurrence ; Tomography, X-Ray Computed ; Ultrasonography ; Urinary Tract Infections

Pulmonary alveolar proteinosis is a rare disease, which hallmark is a dense accumulation of PAS positive phospholipid material within alveolar sac. Pulmonary alveolar proteinosis is classified as primary form of unknown etiology and secondary form associated with other diseases. We report a case of secondary pulmonary alveolar proteinosis associated with acute erythroleukemia. A C year old male patient complained of nonproductive cough and general weakness, and presented fine inspiratory crackles at both lower lung field. Chest radiographs and high resolution CT scans showd a lobular pattern of ground-grass opacity with interlobular septal thickening in the center field of the both lungs, Bone marrow aspiration and biopsy revealed acute erythroleukemia. Open lung biopsy revealed PAS positive eosinophilic granular material filled in alveoli. He was treated with TAD chemotherapy, but died from multiorgan failure with pneumonia 22days after chemotherapy.
Biopsy ; Bone Marrow ; Cough ; Drug Therapy ; Eosinophils ; Humans ; Leukemia, Erythroblastic, Acute* ; Lung ; Male ; Pneumonia ; Pulmonary Alveolar Proteinosis* ; Radiography, Thoracic ; Rare Diseases ; Respiratory Sounds ; Tomography, X-Ray Computed

OBJECTIVE: Recently, the atypical antipsychotics such as quetiapine, olanzapine, risperidone, aripiprazole and ziprasidone are increasingly used in the management of acute manic patients as the monotherapy. But there are only a few reports on the use of these drugs in the treatment of bipolar disorder in Korea. The aim of this study was to evaluate the efficacy and tolerability of quetiapine monotherapy in patients with acute mania. METHOD: This study is multi-center, open-label, 6-week evaluation of the efficacy of quetiapine in bipolar mania. In this study, patients with a DSM-IV diagnosis of bipolar I disorder (manic or mixed episodes) were included to treatment with quetiapine (flexibly dosed up to 800 mg/day). Clinical improvements were rated by Young Mania Rating Scale (YMRS), Clinical Global Impression-Bipolar Version (CGI-BP), Brief Psychiatric Rating Scale (BPRS) and Montgomery-Asberg Depression Rating Scale (MADRS). Adverse events were measured using Simpson-Angus Rating Scale (SARS) and Barnes Akathisia Rating Scale (BARS), and subjective reports of patients were evaluated. Global Assessment Scale (GAS) was used to evaluate the general functioning of patients. All assessments were done at baseline and at days 7, 14, 21, and 42 except GAS (at days 21 and 42). Analyses were focused on change from baseline to day 42. RESULTS: Total 78 (male=30, female=48) patients were included and 59 patients (75.6%) completed the study. The mean initial dose of quetiapine was 268.0+/-223.2 mg/day and mean daily dose at day 42 was 585.3+/-244.5 mg/day. YMRS and CGI-BP were significantly improved at day 7, 14, 21, and 42 as compared to baseline. Mean scores of BPRS and MADRS were also significantly decreased at the each assessment points. Fifty-two patients (66.7%) showed response (more than 50% of decrease in YMRS score from baseline) and 35 patients (44.6%) reached remission (YMRS score < or =12) at day 21. GAS showed the improvements of patient's global functioning at days 21 and 42 of quetiapine monotherapy compared to baseline. There was no significant difference between baseline and any assessment points on SARS and BARS scores. CONCLUSIONS: The data showed that quetiapine monotherapy has favorable effects across a broad range of mood symptoms with minimal adverse events in addition to functional improvement in acute manic patients. This result suggests that quetiapine may be preferred for patients with acute mania as one of the first-line agents.
Antipsychotic Agents ; Bipolar Disorder* ; Brief Psychiatric Rating Scale ; Depression ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Humans ; Korea ; Psychomotor Agitation ; Risperidone ; Aripiprazole ; Quetiapine Fumarate

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.
Brain ; Chromosome Aberrations ; Chromosomes, Human, Pair 15 ; Epilepsy ; Female ; Fluorescence ; Head ; Humans ; Imidazoles ; In Situ Hybridization ; Infant ; Karyotyping ; Magnetic Resonance Imaging ; Muscle Hypotonia ; Neurology ; Nitro Compounds ; Nucleic Acid Hybridization ; Referral and Consultation ; Seizures ; Spasm