Cases reported "Syndrome"

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1/128. Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.

    Impaired glucose transport across brain tissue barriers causes infantile seizures, developmental delay and acquired microcephaly. Since the first report in 1991 (De Vivo et al, NEJM, 1991) 17 patients have been identified with the glucose transporter protein syndrome (GTPS). The diagnostic feature of the syndrome is an unexplained hypoglycorrhachia in the clinical setting of an infantile epileptic encephalopathy. We review our clinical experience by highlighting one illustrative case: a 6-year old girl who presented at age 2 months with infantile seizures and hypoglycorrhachia. The CSF/blood glucose ratio was 0.33. dna sequencing identified a missense mutation in exon 7 (C1108T). Erythrocyte GLUT1 immunoreactivity was normal. The time course of 3-O-methyl-glucose (3OMG) uptake by erythrocytes of the patient was 46% that of mother and father. The apparent Km was similar in all cases (2-4 mmol/L), but the apparent Vmax in the patient was only 28% that of the parents (500 versus 1,766 fmol/s/10(6)RBC; p < 0.004). In addition, a 3-month trial of oral thioctic acid also benefited the patient and increased the Vmax to 935 fmol/s/10(6) RBC (p < 3 x 10(-7)). Uptake of dehydroascorbic acid by erythrocytes of the patient was impaired to the same degree as that of 3OMG (Vmax was 38% of that of the mother's), which supports previous observations of GLUT1 being multifunctional. These studies confirm the molecular basis of the GTPS and the multifunctional role of GLUT1. The need for more effective treatment is compelling.
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2/128. Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?

    Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubule. GH deficiency was demonstrated by specific diagnostic tests in both children. Hypertonic saline infusion tests showed a partial vasopressin deficiency in the girl and delayed secretion of this hormone in the boy. magnetic resonance imaging revealed an empty sella in both cases. Up to now, hypomagnesemia and hypocalciuria have been considered obligatory criteria for the diagnosis of Gitelman disease; however, our two patients had hypomagnesemia and hypocalciuria in less than half the determinations. GH replacement treatment was associated with a good clinical response in both children. It appears that these cases represent a new phenotype, not previously described in Gitelman disease, and that the entity may be considered a new complex hereditary renal tubular-pituitary syndrome.
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3/128. Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption.

    PURPOSE: In 1981, Buchanan and Sheehan described a previously unreported syndrome in three siblings who had iron malabsorption, hypoferremia, and microcytic anemia that did not respond to oral iron and responded only partly to parenteral iron dextran. Ferrokinetic studies were not done in these or subsequently reported patients with this syndrome. It has been postulated that this syndrome of abnormal iron metabolism is analogous to that observed in the mk/mk mouse, which has similar hematologic findings but also has abnormal ferrokinetics. Ferrokinetic studies were performed in one patient to determine whether the abnormality of iron metabolism in the human syndrome is analogous to the mk/mk mouse. patients AND methods: Two sisters with severe microcytic anemia and iron malabsorption who have had only partial response to parenteral iron have been followed up for 15 years. Ferrokinetic studies with 59Fe were performed in one sister. RESULTS: Ferrokinetic studies with radio iron were characteristic of iron deficient erythropoiesis (rapid 59Fe T1/2; rapid, complete incorporation of 59Fe into erythrocyte hemoglobin). These ferrokinetics differ from those of the mk/mk mouse, which has a missense mutation in Nramp2, a putative iron transporter protein. In these children, once iron enters the plasma its subsequent metabolism (including binding to transferrin), transfer into erythroid bone marrow cells, and subsequent incorporation into erythrocyte hemoglobin are all normal. The defect in these patients appears to be an undefined, novel abnormality that governs mobilization of iron into the plasma from both the intestinal mucosal and reticuloendothelial cells. Despite lifelong severe hypoferremia, the growth, development and intellectual performance of these children, who are teen-agers, are normal.
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4/128. Gitelman's syndrome: report of a 19-year old woman with intractable hypomagnesemia and hypokalemia, and a review of the syndrome.

    A case of refractory hypomagnesemia associated with hypokalemic alkalosis and hypocalciuria (Gitelman's syndrome) is described. The genetic mutations discovered to cause the hypokalemic alkalotic syndromes are described (the thiazide-sensitive sodium chloride co-transporter gene or TSC mutations in Gitelman's syndrome, and the sodium-potassium-chloride co-transporter gene or NKCC2 mutations in Bartter's syndrome). The molecular, electrolyte, and volume abnormalities are described, and the implications for diagnosis, therapy, and future research discussed.
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5/128. Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome.

    Gitelman's syndrome, a variant of Bartter's syndrome, is an inherited disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria, and these abnormalities have recently been linked to the thiazide-sensitive Na/Cl cotransporter (TSC) gene. We evaluated three unrelated patients affected with this syndrome whose diagnosis was made based on clinical and biochemical features. The data of clearance studies in these patients were compatible with Gitelman's syndrome. We then investigated possible mutations of the TSC gene. In one patient whose parents are consanguineous, we identified a novel missense mutation in the TSC gene, which causes alteration of arginine to cysteine at codon 642 (R642C mutation) located in the cytoplasmic tail of the product. This mutation results in the loss of an MspI site in exon 15 of the TSC gene. MspI digestion analysis of genomic dna fragments from the family was consistent with the autosomal recessive inheritance of the disorder, and presence of this mutation correlated with the clinical manifestations. Such mutation was not detected in 47 normal healthy subjects. In the second patient, we found another missense mutation in one allele of the TSC gene, which results in alteration of arginine to glutamine at codon 955. In the third patient, no mutation causing amino acid substitution was found in the TSC gene. These results indicate that the R642C mutation in TSC is critically important for impairment of this cotransporter function and also suggest the necessity of further investigations in the genetic background of Gitelman's syndrome.
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6/128. Immunohistochemical analysis in a case of idiopathic Lennox-Gastaut syndrome.

    We herein report a neuropathological and immunohistochemical analysis of a brain from a 25-year-old male with idiopathic type of Lennox-Gastaut syndrome (LGS). The clinical pictures, such as seizure type and progressive mental deterioration with an initial normal psychomotor and mental development in a man were typical of LGS. A routine neuropathological examination showed no pronounced changes, such as neuronal loss, morphologically abnormal neurons, inflammation, vascular changes, Lafora bodies and tumor cells, except that mild gliosis was seen only in CA4 of the hippocampus. Numerous corpora amylacea were observed throughout the cerebral cortices subjacent to the pia mater. An immunohistochemical analysis showed no marked findings for such proteins as glutamate transporters, glutamate decarboxylase, glutamine synthetase, neuronal cytoskeleton proteins and heat-shock proteins. However, intense ubiquitin-immunostained neurons were only found in CA4 of the hippocampus, whereas numerous astrocytes showed a strong immunoreaction for glial fibrillary acidic protein, but showed an exclusively reduced immunoreactivity for metallothionein-I/II, zinc-chelating protein. Our findings thus suggest that the pathology in the hippocampus is either causally or consequentially associated with the seizures occurring in LGS.
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7/128. Assessment of patients for orthognathic surgery.

    Rapid advances in orthognathic surgery now allow the clinician to treat severe dentofacial deformities that were once only manageable by orthodontic camouflage. These cases were often compromised with unacceptable facial esthetics and unstable occlusal results. Over the past 25 years, there have been numerous improvements in technology and the surgical management of dentofacial deformities. These progressions now allow more predictable surgical outcomes, which ensure patient satisfaction. Not all patients are candidates for surgical treatment; therefore, patient assessment and selection remains paramount in the process of diagnosing and treatment planning for this type of irreversible treatment. The inclusion of patients in the decision-making process increases their awareness and acceptance of the final result. The past three decades indicate an increased usage of orthodontic treatment by both children and adults. Patient demographic profiles for severe occlusal and facial characteristics are presented in an effort to understand the epidemiological factors of malocclusion and predict the population's need for this service.
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8/128. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.

    We report the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. Previously reported mutations in the DDP gene have all been frameshifts/nonsense mutations or deletion of the entire gene as part of a larger deletion encompassing the BTK gene. The clinical presentation was uniformly characterised by sensorineural hearing loss, dystonia, mental deterioration, paranoid psychotic features, and optic atrophy, indicating progressive neurodegeneration. Our report illustrates that de novo mutations occur and that a missense mutation, C66W, may cause an equally severe clinical picture. The diagnosis of sensorineural hearing impairment associated with neurologic and visual disability in a male, therefore, should encourage the search for mutations in the DDP gene, even in sporadic cases. The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.
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9/128. thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.

    thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disease in which the active thiamine uptake into cells is disturbed. The molecular basis underlying the disorder has been related to mutations in the gene SLC19A2 on chromosome 1q23.3 that encodes a functional thiamine transporter. The protein is predicted to have 12 transmembrane domains. TRMA is characterized by sensorineural deafness, diabetes mellitus, megaloblastic anemia, and cardiomyopathy. optic nerve atrophy and retinal dystrophy have been reported in a small number of patients. We report a 15-year-old girl with TRMA and cone-rod dystrophy and confirm that retinal dystrophy may form part of the syndrome. Differential diagnosis of syndromes with deafness, diabetes mellitus, and optic nerve atrophy or retinal dystrophy are discussed. The authors suggest that ERG be performed in all patients with TRMA.
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10/128. Gitelman's syndrome (familial hypokalemia-hypomagnesemia).

    Gitelman's syndrome (GS) is a heritable renal disorder characterized by hypomagnesemia, hypokalemia and hypocalciuria, and distinct from Bartter's syndrome (BS). As compared to those with BS, patients with GS present at an older age, and they have a milder clinical picture, normal or slightly decreased concentrating ability, reduced urinary excretion of calcium, and permanently decreased serum magnesium level. GS is caused by defective NaCl transport in the distal convoluted tubule, and linked to the gene encoding the thiazide sensitive Na-Cl-cotransporter located on chromosome 16q. patients with BS, on the other hand, have mutations in the transporters in the thick ascending loop of henle (NKCC2, ROMK, and C1C-Kb). Treatment of GS consists of magnesium salt replacement. Long term prognosis in terms of maintaining growth, preserving renal function and life expectancy is excellent.
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