1/662. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction.We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28, and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age 4 years following an acute respiratory infection. Due to persistently high lactic acid levels in blood, muscle and skin biopsies were taken. Analysis of muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV of the mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
2/662. Anticonvulsant hypersensitivity syndrome occurring as sepsis with multiorgan dysfunction.phenytoin is a highly effective and widely prescribed anticonvulsant agent. However, it is associated with both dose-related side effects and hypersensitivity reactions. life-threatening anticonvulsant hypersensitivity syndrome in one patient was characterized by a skin eruption and multisystem organ dysfunction.- - - - - - - - - - ranking = 1.25keywords = dysfunction (Clic here for more details about this article) |
3/662. pyoderma gangrenosum complicating Cogan's syndrome.Cogan's syndrome is a rare clinical entity defined by the association of a nonsyphilitic interstitial keratitis and vestibuloauditory dysfunction, typically Meniere's disease-like; the condition has been reported in association with a variety of cutaneous diseases. We now report a case of pyoderma gangrenosum complicating Cogan's syndrome in a 57-year-old woman, which then healed dramatically, as more interestingly did the associated uveitis with minocycline therapy.- - - - - - - - - - ranking = 0.25keywords = dysfunction (Clic here for more details about this article) |
4/662. Bilateral granulosa cell tumor in a patient with blepharophimosis syndrome.blepharophimosis syndrome is a rare, autosominal, dominant ocular disorder and has been reported to be associated with ovarian dysfunction and premature menopause. We report a case of bilateral granulosa cell tumor associated with blepharophimosis syndrome. The combination of the long-term hypergonadotrophism and oocyte depletion associated with blepharophimosis syndrome may have contributed to the pathogenesis of the granulosa cell tumors. In female patients with blepharophimosis syndrome, close gynecologic surveillance should be instituted.- - - - - - - - - - ranking = 0.25keywords = dysfunction (Clic here for more details about this article) |
5/662. kearns-sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial dna deletion.kearns-sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial dna (mtDNA). KSS is an encephalomyopathy with ophthalmoplegia, retinal degeneration, ataxia, and endocrine abnormalities. PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction. Children with PMPS that have a mild phenotype, or are supported through bone marrow failure, often develop the encephalomyopathic features of KSS. The subject of numerous reports in the neuromuscular, genetic, and pediatric literature in recent years, very few cases of either disorder have ever been studied at autopsy. We report the results of our studies of a patient with clinically documented KSS who presented with renal dysfunction and was found to have a novel mtDNA deletion and degenerative changes in the central nervous system, retina, skeletal muscle, and pancreas.- - - - - - - - - - ranking = 0.5keywords = dysfunction (Clic here for more details about this article) |
6/662. Cardiac involvement in coffin-lowry syndrome.coffin-lowry syndrome is an X-linked recessive syndrome of mental retardation, characteristic facies and skeletal anomalies. In one patient with the syndrome, we observed early recurrent episodes of congestive heart failure with intercurrent normalization and the late development of mitral insufficiency due to annular dilation and congenital abnormalities of the valve apparatus. This unusual course of cardiac involvement, the non-adaptation of the left ventricular contractility to the aggravation of the mitral insufficiency and the postoperative persistence of the ventricular dysfunction, underline the possible role of an associated primary myocardial disease. This clinical observation demonstrates clearly that a mitral valve malformation can occur in patients with the syndrome, but also the role of a dilated cardiomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.- - - - - - - - - - ranking = 0.67705528848173keywords = ventricular dysfunction, dysfunction (Clic here for more details about this article) |
7/662. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.McCune-Albright syndrome consists of fibrous dysplasia of bone, cafe-au-lait skin pigmentation, and endocrine dysfunction (usually precocious puberty). Other endocrine abnormalities occur in a minority of patients, and of these, Cushing's syndrome is the least often recognized. We present 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing's syndrome in the infantile period (<6 months). In 2 children spontaneous resolution occurred, but the remaining 3 required bilateral adrenalectomy. In addition, all 4 girls have experienced precocious puberty, and 3 children demonstrated radiologic evidence of nephrocalcinosis. Understanding of the underlying defect causing McCune-Albright syndrome emphasizes the importance of searching for other endocrine dysfunction in these children.- - - - - - - - - - ranking = 0.5keywords = dysfunction (Clic here for more details about this article) |
8/662. Cogan's syndrome with refractory abdominal aortitis and mesenteric vasculitis.Cogan's syndrome is a rare multisystem disease characterized by ocular inflammation, vestibuloauditory dysfunction, and vasculitis. We report a 26-year-old Caucasian woman who died from Cogan's syndrome. Her case illustrates that patients with Cogan's syndrome can have abdominal aortitis and mesenteric vasculitis, and that the vasculitis can be refractory to methotrexate, cyclophosphamide, cyclosporine, and chlorambucil.- - - - - - - - - - ranking = 0.25keywords = dysfunction (Clic here for more details about this article) |
9/662. Cone and rod dysfunction in the NARP syndrome.AIMS: Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial dna (mtDNA). methods: A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Two had manifestations of the NARP syndrome. A complete ocular and systemic examination was performed on all three patients. RESULTS: The clinical examination, electroretinogram, and visual fields revealed a typical cone-rod dystrophy in the son, and a typical cone dystrophy in the daughter. The mother had no ocular manifestations of the disease. CONCLUSIONS: NARP is a recently described, maternally inherited mitochondrial syndrome in which a retinal dystrophy, among other abnormalities, is related to a mutation of the mtDNA at nucleotide 8993. This study demonstrates the great variability of the ocular manifestations in the NARP syndrome. It also indicates that the retinal dystrophy in at least some NARP patients affects primarily the cones.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
10/662. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.- - - - - - - - - - ranking = 0.25keywords = dysfunction (Clic here for more details about this article) |
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