1/7. An unusual presentation of classic polyarteritis nodosa in a child.Classic polyarteritis nodosa (c-PAN) is a rare disease in adults and extremely rare in children. We report a 3-year-old girl with c-PAN who presented with disturbances of consciousness and hypertension. Cranial tomography showed a subarachnoid hemorrhage. Subsequent magnetic resonance imaging and magnetic resonance angiography demonstrated subarachnoid hemorrhage and acute ischemic lesions. Renal angiography revealed bilateral multiple aneurysms. Due to her constitutional symptoms and hypertension and radiological findings she was diagnosed as having c-PAN. She was successfully treated with hydralazine followed by angiotensin-converting enzyme inhibitor, calcium channel blocker, intravenous pulse methylprednisolone, and subsequently oral prednisolone and oral cyclophosphamide. To our knowledge this is the youngest patient with c-PAN presenting with subarachnoid hemorrhage. Malign hypertension at this young age deserves a meticulous investigation of the vascular origin. Furthermore, treatment with pulse methyl prednisolone followed by oral prednisolone and oral cyclophosphamide is a successful modality of treatment in such a life-threatening presentation of c-PAN in childhood.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.Steroid 17 alpha-hydroxylase (cytochrome P-450(17)alpha) mediates both 17 alpha-hydroxylase and 17,20-lyase activities. A relatively rare disease, 17 alpha-hydroxylase deficiency is characterized by defects in either or both of these activities. The molecular basis for variability of the defect is not well understood. We have determined the exonic sequence of the mutant P-450(17)alpha gene from one Japanese patient with combined 17 alpha-hydroxylase/17,20-lyase deficiencies. A stop codon (TGA) due to a single point mutation was found at the position of amino acid 17 in exon 1 of the P-450(17)alpha gene. The presence of a stop codon in the N-terminal region of this gene leads to the absence of a functional P-450(17)alpha protein in adrenal cortex and ovary, and consequently hypertension, primary amenorrhea and osteoporosis in this patient.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. Renal cell carcinoma in pregnancy.A rare case of renal cell carcinoma occurring during pregnancy is described. The modalities used to make the diagnosis and the antepartum management of the patient are discussed. The case reported herein demonstrates the major diagnostic challenge of the young pregnant patient with a rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency: a case report.We studied a patient with hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency. An 18-year-old high school student, who appeared to be a girl with poorly developed secondary sex characteristics, had generalized muscle weakness. The cause of muscle weakness proved to be hypokalemic myopathy confirmed by clinical findings and muscle biopsy. Endocrinologic study demonstrated 17 alpha-hydroxylase deficiency with male pseudohermaphroditism. The metabolic abnormality of this patient was corrected by the administration of glucocorticoid. The possibility of this rare disease has to be considered when we examine a patient who has hypokalemic myopathy associated with hypogonadism.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Liddle's syndrome: a 14-year follow-up of the youngest diagnosed case.The 14-year follow-up of a female patient with Liddle's syndrome (LS), a rare disease characterized by hypertension, hypokalemic alkalosis, and negligible aldosterone secretion due to renin suppression, is described. The disease was diagnosed at the age of 10 months (youngest identification). The patient was repeatedly investigated during follow-up for plasma renin activity (PRA), plasma aldosterone concentration (PA), serum sodium and potassium (K) concentration, blood pressure (BP), somatic anthropometry, and mental development. Noteworthy results included: persistent low circulating K, PRA, and PA and high BP, coinciding with unauthorized withdrawal of the triamterene therapy. These findings are in keeping with the hypothesis that LS results from a pathogenetic disorder which is not correctable with age. The triamterene therapy was effective in correcting the endocrine and metabolic disorders as well as arterial hypertension, but did not prevent a deficit in mental and physical development. However, the information derived from this study allows further clarification of the clinical picture of the disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. pheochromocytoma in pregnancy manifesting hypertensive crisis induced by metoclopramide.pheochromocytoma is a rare disease that may occur during pregnancy. Antenatal diagnosis is essential to improve fetal and maternal mortality and morbidity, but is difficult. A hypertensive crisis was induced by metoclopramide, a widely used anti-emetic, in a pregnant normotensive woman. Biochemical measurements of plasma and urine catecholamines and magnetic resonance imaging (MRI) established the diagnosis of pheochromocytoma. She was medically treated with prazocin and electively delivered by cesarean section simultaneously with tumor resection.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. Coarctation of the thoraco-abdominal aorta: operative treatment with a cryopreserved arterial homograft in a seven-year-old boy.Compared to coarctation in the proximal descending aorta near the insertion of the ligamentum arteriosum, coarctation in the aortic arch, the lower descending or the abdominal aorta is a relatively rare disease. Operative treatment of abdominal coarctation is more complicated if there are concomitant stenoses of visceral or renal arteries. In young patients, surgical procedure and outcome is additionally determined by caliber and compliance mismatch between still growing native vessels and arterial substitute. Our report deals with a seven-year-old male patient, who was first diagnosed as having coarctation of the aorta at five years of age due to distinct bilateral brachial hypertension. The angiogram revealed a narrowing of the aorta, approximately ten centimeters in length, from the lower descending segment down to the proximal abdominal part of the aorta. The origin of the superior mesenteric artery and both renal arteries were not involved in the pathological process. Arterial reconstruction was carried out by anastomosis of cryopreserved arterial homograft with the thoracic aorta and with the abdominal aorta distal to the origin of the renal arteries. The postoperative course was uneventful, duplex sonography revealed no pressure gradient between the thoracic and abdominal aorta and brachial blood pressure was within normal ranges.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |