Pyelocaliceal diverticula are eventrations of the upper collecting system, lying within the renal parenchyma and communicating with the main collecting system via a narrow channel. They may be detected in as many as 0.5% of excretory urograms but are usually small(<1cm in diameter) and asymptomatic. Urinary stasis may predispose patient to infection or stone formation. Rarely, transitional cell carcinoma originates within the diverticulum. Symptomatic, complicated diverticula should be treated by 5 different therapeutic alternatives which is open surgery, a percutaneous approach, shock wave lithotripsy ureterorenoscopy and retroperitoneoscopy. We report a incidentally found calculi-containing type I pyelocalyceal diverticulum patient who initially presented with epigastric pain.
Carcinoma, Transitional Cell ; Deception ; Diverticulum* ; Humans ; Lithotripsy ; Shock

Pyelocaliceal diverticula are eventrations of the upper collecting system, lying within the renal parenchyma and communicating with the main collecting system via a narrow channel. They may be detected in as many as 0.5% of excretory urograms but are usually small(<1cm in diameter) and asymptomatic. Urinary stasis may predispose patient to infection or stone formation. Rarely, transitional cell carcinoma originates within the diverticulum. Symptomatic, complicated diverticula should be treated by 5 different therapeutic alternatives which is open surgery, a percutaneous approach, shock wave lithotripsy ureterorenoscopy and retroperitoneoscopy. We report a incidentally found calculi-containing type I pyelocalyceal diverticulum patient who initially presented with epigastric pain.
Carcinoma, Transitional Cell ; Deception ; Diverticulum* ; Humans ; Lithotripsy ; Shock

Fabry disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive deposition of specific neutral glycosphingolipids within the lysosomes of endothelial and smooth muscle cells of the cardiovascular and renal systems predominantly. We reported a case of Fabry disease, following renal biopsy for the investigation of proteinuria(Creatinine clearance 87.28 mL/min/1.73, serum creatinine 1.1 mg/dL, 24-hour urine protein 1,125 mg, 24-hour urine creatinine 1,382 mg). The patient was 46 year old male. He had experienced anterior chest pain regarded as angina pectoris for a few years. A 12- lead electrocardiogram was abnormal(T-wave inversion in II, III, AVF, and V3-V6), but echocardiography and coronary angiography revealed no abnormal. Kidney biopsy findings showed lamella inclusion bodies on electron microscopy, which are typical finding of Fabry disease. The patient is followed at O.P.D without any significant complaints for 18 months after diagnosis of Fabry disease.
alpha-Galactosidase ; Angina Pectoris ; Biopsy* ; Chest Pain ; Coronary Angiography ; Creatinine ; Diagnosis ; Echocardiography ; Electrocardiography ; Fabry Disease* ; Humans ; Inclusion Bodies ; Kidney ; Lysosomes ; Male ; Metabolism ; Microscopy, Electron ; Middle Aged ; Myocytes, Smooth Muscle ; Neutral Glycosphingolipids ; Proteinuria*

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations. A founder effect of the p.Ala275Asp variant was demonstrated by haplotype analysis using single-nucleotide polymorphic (SNP) markers. Multiple ligation-dependent probe amplification (MLPA) and comparative genomic hybridization plus SNP array were used to detect exonic deletions or uniparental disomy (UPD). RESULTS: The most prevalent pathogenic variant was c.824C>A (p.Ala275Asp) found in 7/10 (70%) alleles. Two pathogenic frameshift variants were found: c.135delC (p.Cys46Alafs*12) and c.337_353delinsG (p.Ile113Glyfs*4). Haplotype analysis suggested that the Korean patients with MLC harbored a founder mutation in p.Ala275Asp. The p.(Ile113Glyfs*4) was identified in a homozygous state, and a family study revealed that only the mother was heterozygous for this variant. Further analysis of MLPA and SNP arrays for this patient demonstrated loss of heterozygosity of chromosome 22 without any deletion, indicating UPD. The maternal origin of both chromosomes 22 was demonstrated by haplotype analysis. CONCLUSIONS: This study is the first to describe the mutational spectrum of Korean patients with MLC, demonstrating a founder effect of the p.Ala275Asp variant. This study also broadens our understanding of the mutational spectrum of MLC1 by demonstrating a homozygous p.(Ile113Glyfs*4) variant resulting from UPD of chromosome 22.
Alleles ; Chromosomes, Human, Pair 22* ; Comparative Genomic Hybridization ; Exons ; Founder Effect ; Haplotypes ; Humans ; Leukoencephalopathies* ; Loss of Heterozygosity ; Megalencephaly ; Mothers ; Seizures ; Uniparental Disomy*

Imigran(R) (sumatriptan), a 5-hydroxytryptamine (HT) derivative, is highly effective in aborting attacks of migraine and cluster headache. The drug is generally well tolerated. However tolerated, although up to 8% of patients consistently have demonstrate chest symptoms, including chest pressure, tightness, and pain, often mimicking angina pectoris. It has been suggested that these chest symptoms are caused by coronary vasoconstriction, and that this effect may be mediated by endothelial dysfunction. This can be reversed by the administration of glyceryl trinitrate. We report a case of vasospastic angina pectoris occurring after the administration of oral sumatriptan in a patient with migraine.
Angina Pectoris* ; Cluster Headache ; Humans ; Migraine Disorders* ; Nitroglycerin ; Serotonin ; Sumatriptan ; Thorax ; Vasoconstriction