1/24. A new missense mutation in the calcium-sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes.We studied two patients (a 54-year-old woman and her 16-year-old son) with familial benign hypocalciuric hypercalcaemia (FBHH) associated with severe insulin resistant diabetes in the context of a partial lipodystrophic syndrome. Sequencing of the entire coding sequence of the calcium-sensing receptor (CaR) gene revealed a novel heterozygous mutation at codon 395, leading to the substitution of a cysteine by an arginine residue (Cys395Arg) in the extracellular ligand-binding domain. This mutation was absent in two normocalcaemic relatives and in 54 control subjects. It was recently shown, in transfection studies, that the substitution of this amino acid results in incomplete receptor processing, a severe decrease in cell surface expression and altered signal transduction (Fan et al., 1998). This mutation is therefore likely to be responsible of the FBHH phenotype. A pathophysiological link between this mutation and insulin resistance remains unclear.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
2/24. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings.We present here two DIDMOAD syndrome cases (diabetes mellitus, diabetes insipidus, optic atrophy, deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome.- - - - - - - - - - ranking = 27.266343613856keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
3/24. Co-existent diabetes mellitus and diabetes insipidus, a familial disease.Three male siblings with diabetes mellitus are described, two of whom also had coexistent diabetes insipidus. The co-existence of diabetes mellitus and insipidus appears to represent a single genetic abnormality and may or may not be accompanied by primary optic atrophy. chlorpropamide was effective in controlling the symptoms of diabetes mellitus and diabetes insipidus.- - - - - - - - - - ranking = 13.633171806928keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
4/24. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.A-Type lamins, arising from the LMNA gene, are intermediate filaments proteins that belong to the lamina, a ubiquitous nuclear network. Naturally occurring mutations in these proteins have been shown to be responsible for several distinct diseases that display skeletal and/or cardiac muscle or peripheral nerve involvement. These include familial partial lipodystrophy of the Dunnigan type and the mandibuloacral dysplasia syndrome. The pathophysiology of this group of diseases, often referred to as laminopathies, remains elusive. We report a new condition in a 30-yr-old man exhibiting a previously undescribed heterozygous R133L LMNA mutation. His phenotype associated generalized acquired lipoatrophy with insulin-resistant diabetes, hypertriglyceridemia, hepatic steatosis, hypertrophic cardiomyopathy with valvular involvement, and disseminated whitish papules. Immunofluorescence microscopic analysis of the patient's cultured skin fibroblasts revealed nuclear disorganization and abnormal distribution of A-type lamins, similar to that observed in patients harboring other LMNA mutations. This observation broadens the clinical spectrum of laminopathies, pointing out the clinical variability of lipodystrophy and the unreported possibility of hypertrophic cardiomyopathy and skin involvement. It emphasizes the fact that the diagnosis of genetic alterations in A-type lamins requires careful and complete clinical and morphological investigations in patients regardless of the presenting signs.- - - - - - - - - - ranking = 1.25keywords = atrophy (Clic here for more details about this article) |
5/24. wolfram syndrome.The wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier.- - - - - - - - - - ranking = 40.899515420784keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
6/24. Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine-responsive anemia. Mutations in the SLC19A2 gene encoding a high-affinity thiamine transporter protein THTR-1 are responsible for the clinical features associated with TRMA syndrome. We report an African-American female with TRMA-syndrome associated with thyroid disease and retinitis pigmentosa caused by a novel mutation in the SLC19A2 gene. The patient presented at 12 months of age with paroxysmal atrial tachycardia and hepatosplenomegaly. One month later, she developed DM requiring intermittent insulin therapy. At 2-1/2 years of age, profound sensorineural hearing loss was discovered. By 4 years of age, daily insulin therapy (0.5 U/kg/day) was instituted and her insulin requirement gradually increased to 1.0 U/kg/day by 9 years of age. She developed optic atrophy, retinitis pigmentosa, and visual impairment by 12 years of age with severe restriction of peripheral vision by 16 years. At age 19, a thiamine-responsive normocytic anemia was discovered. She was diagnosed with autoimmune thyroiditis at 20 years and she experienced a psychotic episode associated with a mood disorder at age 21. With oral thiamine therapy, her insulin requirement decreased by 30% over a 20 month period. Molecular analysis revealed that the patient is homozygous for a missense mutation (C152T) in exon 1 of the SLC19A2 gene.- - - - - - - - - - ranking = 13.633171806928keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
7/24. First prenatal diagnosis for wolfram syndrome by molecular analysis of the WFS1 gene.wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life. Other clinical features such as diabetes insipidus, deafness, renal tract abnormalities or psychiatric illnesses are often present. The sequence of the wolfram syndrome gene (WFS1) was described in 1998, and mutations in the gene have been reported in many populations. To date, the function of the putative protein remains unknown. Here we report prenatal diagnosis by analysing the WFS1 gene, in a foetus belonging to a family with a child diagnosed for wolfram syndrome. The parents are carriers of the c.2206G > C (G736R) mutation. To our knowledge this is the first description of prenatal diagnosis for wolfram syndrome, based on the molecular analysis of the WFS1 gene.- - - - - - - - - - ranking = 13.633171806928keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
8/24. Pulmonary melioidosis presenting with right paratracheal mass.A rare case of pulmonary melioidosis is reported. The patient was a 62-year-old man presenting with subacute fever, dry cough, and significant weight loss. A chest x-ray revealed a right paratracheal mass. The findings from fiberoptic bronchoscopy were a blunt carina and normal tracheobronchial tree. The patient had an underlying disease of poorly controlled diabetes mellitus, heavy smoking, and heavy alcoholic drinking. One of the two cultured blood specimens grew B. pseudomallei. The pathological finding of transbronchial biopsy at the apical segment of the right upper lung showed lymphocytic infiltrates. He was treated with two weeks of intravenous ceftazidime plus cotrimoxazole followed by 5 months of oral doxycycline plus cotrimoxazole. Clinical symptoms significantly improved and the right paratracheal mass disappeared.- - - - - - - - - - ranking = 0.064988145827901keywords = optic (Clic here for more details about this article) |
9/24. A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI).A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial dna purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A-->G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.- - - - - - - - - - ranking = 1.25keywords = atrophy (Clic here for more details about this article) |
10/24. Lipoatrophic diabetes.A female patient with acanthosis nigricans, insulin resistant diabetes, and generalized lipoatrophy is reported. The patient developed skin pigmentation and acanthosis nigricans around the age of 34. arthralgia, muscle weakness, and peripheral neuropathy were also present when she first visited us at 36 years of age. dermatomyositis, systemic sclerosis, and internal malignancy were ruled out, and the diagnosis of acanthosis nigricans and insulin resistant diabetes was made. Her diabetes gradually worsened and, since the age of 39, she has been treated with an oral anti-diabetic drug. Around the age of 47, generalized lipoatrophy became prominent. Insulin receptor studies ruled out insulin resistant diabetes type A and B. At this point, we diagnosed this patient as having lipoatrophic diabetes, which is a syndrome characterized by insulin resistant diabetes, acanthosis nigricans, generalized lipoatrophy, and other metabolic disturbances. The control of her diabetes has been poor, and diabetic neuropathy and lipoatrophy-induced painful skin lesions such as clavus and tylosis have been persistent. The present case indicates the importance of careful skin examinations in the diagnosis of this syndrome.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
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