1/9. Idiopathic hypertrophic cranial pachymeningitis: clinicoradiological spectrum and therapeutic options.OBJECTIVE: Idiopathic hypertrophic cranial pachymeningitis is a rare disease, of undetermined pathogenesis, that is characterized by inflammation and fibrosis of the dura mater. methods: We encountered six patients with idiopathic hypertrophic cranial pachymeningitis and analyzed their clinical presentations, radiological findings, and treatment. RESULTS: In the six patients, the main manifestations were cranial nerve palsies and headache. Three associations were present, namely optic neuropathy, tolosa-hunt syndrome, and diabetes insipidus. gadolinium-enhanced magnetic resonance imaging was diagnostic, showing intense dural enhancement in a linear or nodular pattern. The responses to corticosteroid therapy were better for patients who exhibited linear, rather than nodular, dural enhancement. For one patient, surgical decompression of the superior orbital fissure provided lasting relief. The course of the disease followed one of three patterns, i.e., sustained remission, relapse with corticosteroid independence, or relapse with corticosteroid dependence. pulse corticosteroid therapy provided significant relief, while reducing the daily corticosteroid requirement and avoiding side effects, for a corticosteroid-dependent relapsing patient. CONCLUSION: Idiopathic hypertrophic cranial pachymeningitis exhibits varied clinical courses. It is important to prevent irreversible cranial neuropathy during the active phase of the disease, using daily administration of corticosteroids, pulse corticosteroid therapy, or surgical decompression.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/9. Laparoscopic pyloroplasty in idiopathic hypertrophic pyloric stenosis in an adult.BACKGROUND AND OBJECTIVES: Idiopathic hypertrophic pyloric stenosis, in adults, is a rare disease. Partial gastrectomy, gastroenterostomy, pyloromyotomy, pyloroplasty and endoscopic dilatation have all been recommended with variable results. A 54-year-old white female is presented with the onset of symptoms of idiopathic hypertrophic pyloric stenosis one year prior to operation. Two endoscopic pyloric sphincter balloon dilatations provided only temporary relief. METHOD: A laparoscopic pyloroplasty was performed. RESULT: The patient tolerated a solid diet on postoperative day three. The patient was symptom-free at a 13 month follow-up. CONCLUSIONS: Idiopathic hypertrophic pyloric stenosis in adults can be treated with laparoscopic pyloroplasty, offering a minimally invasive alternative to open repair.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/9. Lumbar canal stenosis caused by hypertrophy of the posterior longitudinal ligament: case report.STUDY DESIGN: This is a case report of a patient with hypertrophy of the posterior longitudinal ligament (HPLL) in the lumbar spine, with assessment of operative treatment and a 10-year follow-up using magnetic resonance imaging. OBJECTIVES: To report on the long-term outcome of a case of lumbar HPLL, to review the literature on case reports of HPLL, and to outline the pathology of HPLL in the lumbar spine. SUMMARY OF BACKGROUND DATA: There have been several reports of HPLL in the cervical spine and thoracic spine. However, the authors found no reports of this condition in the lumbar spine and no reports of long-term follow-up. Two types of pathology are associated with HPLL: primary hypertrophy of the ligament and secondary hypertrophy associated with intervertebral disc herniation. methods: A 10-year follow-up evaluation of a 56-year-old man with HPLL at L2 is reported. The patient was observed using serial physical examinations, radiographs, and MRIs over 10 years. Because he did not respond to conservative management, surgical treatment was applied. After complete decompression by hemilaminectomy and resection of hypertrophied ligament, the nerve roots were freed of constriction through the neural foramens at L2 and L3. RESULTS: One year after the operation the patient was asymptomatic without evidence of recurrence of the disease. CONCLUSIONS: HPLL is a very rare disease. This appears to be the first report of the disease in the lumbar spine.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/9. Recessive X-linked ichthyosis associated with hypertrophic pyloric stenosis: a chance occurrence?The association of recessive X-linked ichthyosis (RXLI) and hypertrophic pyloric stenosis (HPS) has been considered to be due to a probable contiguous gene defect. However, there are several reports of patients with large deletions on both sides of the steroid sulphatase gene (responsible for RXL1) that show no signs of HPS. We report the third pedigree wherein RXL1 was associated with HPS. Apart from the proband, both diseases showed themselves as independent events in the family tree with ichthyosis present in two other individuals and HPS in three other relatives. We calculated the probability that both diseases occurred simultaneously in the index case as a chance occurrence as 1 : 40 (using the Independence principle of probability). We conclude that in our pedigree it is likely that these two rare diseases show an accidental and not a true genetic association.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/9. recurrence of hypertrophic spinal pachymeningitis. Report of two cases and review of the literature.Hypertrophic spinal pachymeningitis (HSP) is a comparatively rare disease characterized by hypertrophic inflammation of the dura mater and clinical symptoms that progress from local pain to myelopathy. The authors report two cases of recurrent HSP and review the English- and Japanese-language literature focusing on the recurrence of HSP. In the first case, a man who presented at 67 years of age with lower-extremity numbness, gait disturbance, and bladder dysfunction experienced two recurrences of HSP during the 11 years of follow up after his initial laminectomy. Both recurrences were successfully treated with laminoplasty and duraplasty. Three years after his last surgical procedure, he was still able to walk with the aid of a walker. In the second case, a man who presented at 62 years of age with lower-extremity numbness and gait disturbance was initially treated successfully with steroid pulse therapy. Approximately 8 months after his initial presentation, his symptoms recurred. He underwent laminoplasty and duraplasty. At the 2.5-year follow-up examination, he had only mild neurological deficits and was still able to walk unaided. To explore possible causes of recurrence, the authors searched the English- and Japanese-language literature for cases of HSP. Of the 96 cases identified, 11 were recurrent. Data on the presence or absence of inflammatory signs were available for 84 patients. A chi-square analysis revealed a significantly increased rate of recurrence for patients who had at least one positive inflammatory sign before surgery (six [20%] recurrent cases of 30) compared with those who had no positive inflammatory signs before surgery (two [3.7%] recurrent cases of 54) (p < 0.05). The authors conclude that HSP recurrence occurs because of active inflammation of the dura before surgery and the influence of chronic inflammation, including residual arachnoiditis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/9. Plexogenic pulmonary vascular lesions in primary pulmonary arteriopathy--report of two autopsy cases.Pulmonary hypertension is caused largely by an increase in pulmonary vascular resistance and is most frequently secondary to chronic pulmonary obstructive or interstitial diseases, recurrent pulmonary emboli, or antecedent heart diseases. Primary pulmonary hypertension (plexogenic pulmonary arteriopathy) is a rare disease and diagnosed only when the underlying causing factors are undetermined. Two autopsy cases of primary pulmonary hypertension, first documented at Taipei veterans General Hospital, are reported. They showed apparent pulmonary vascular changes including medial hypertrophy, intimal proliferation and fibrosis and plexiform lesions of the muscular pulmonary arteries. The plexiform lesion has been considered to be characteristic in the histopathological diagnosis of primary pulmonary hypertension when there are no other associated diseases, such as cirrhosis of liver, pre- or post- tricuspid congenital cardiac shunts and portal vein thrombosis. The pathogenesis of the plexiform lesion is obscure. In the present report, we shall emphasize pathological changes of the "plexiform lesions" and discuss their pathogenesis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/9. Localized hypertrophic neuropathy--a rare, clinically almost unknown syndrome.Localized hypertrophic neuropathy is a rare disease, which predominantly affects the radial nerve. The pathogenesis of this alteration is not yet clearly understood. We report a case with an unusually long history, discuss the relevant treatment briefly, and review the literature.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/9. Incomplete forms of beckwith-wiedemann syndrome: report of a case.beckwith-wiedemann syndrome is a rare disease characterized by a constellation of congenital and time-dependent abnormalities such as defects of the abdominal wall, gigantism, craniofacial dysmorphism, visceromegaly and hemihypertrophy. The syndrome is divided into complete and incomplete forms and, as it may only have subtle phenotypic features, it is easily neglected by clinicians. patients with this syndrome, particularly those associated with hemihypertrophy, have a high risk of growing malignant tumors. This is a case report of a patient with an incomplete form of this syndrome with left hemihypertrophy, hepatosplenomegaly and a small right adrenal cystic lesion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/9. Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum. Case report.A case of dysplastic gangliocytoma, or Lhermitte-Duclos disease, of the cerebellum is reported. The patient was the seventh reported survivor of this rare disease. A review of the known biology of the disease allows some optimism. The treatment of choice appears to be surgical resection only.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |