1/286. Partial lipodystrophy presenting with myopathy.A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer-Simon syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
2/286. Therapeutic plasma exchange in patients with chylomicronemia syndrome complicated by acute pancreatitis.Chylomicronemia syndrome (CMS) is a rare disorder characterized by the presence of chylomicrons in the fasting state causing a milky appearance of plasma, eruptive xanthomas, and hepatosplenomegaly; an acute and potentially life threatening complication is severe acute pancreatitis. The underlying defects are inborn errors of metabolism such as deficiencies of lipoprotein lipase (LPL) or apoprotein C-II (apo C-II) as well as familial hypertriglyceridemia. Moreover, CMS can be precipitated when mild hypertriglyceridemia is exacerbated by additional factors such diabetes mellitus, ethanol abuse, or pregnancy. The purpose of the present study was to retrospectively analyze the results of therapeutic plasma exchange (TPE) in 5 patients transferred to our hospital for severe acute pancreatitis due to chylomicronemia syndrome. In a total of 7 TPE sessions, on average 3,286 /- 247 ml of plasma (i.e., about 1 patient plasma volume) were treated per session. Triglyceride (TG) levels were decreased from 4,972 /- 2,469 mg/dl on admission to 1,614 /- 1,276 mg/dl (-70%) after the TPE sessions, and a further decrease was achieved by conservative treatment. Part of the TG reducing effect of the treatment was probably due to heparin induced lipolysis. Acute pancreatitis was resolved in all cases, and 1 pregnant patient delivered without problems at term. In summary, 1 or 2 TPE sessions sufficed to substantially decrease the bulk of triglycerides in acutely exacerbated chylomicronemia syndrome causing a rapid resolution of acute severe pancreatitis.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
3/286. Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation.Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial dna, which is known to be associated with most cases of melas syndrome (myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), have been recently reported. These patients share the characteristics of hereditary progressive glomerular disease and hearing loss with Alport syndrome. We therefore screened 27 patients with kidney disease clinically mimicking Alport syndrome for the presence of the 3243 mitochondrial mutation, and found one girl with the mutation and a positive family history. Her clinical features were very similar to those of all cases reported to date. An absence of hematuria, severe kidney involvement in a female, pathological changes of focal segmental glomerulosclerosis with no basket-weave change of the glomerular capillary wall, and the frequent association of steroid-induced diabetes are the major features that distinguish this condition from Alport syndrome. Careful neurological examination may detect neuromuscular symptoms compatible with mitochondrial cytopathies. In conclusion, progressive glomerulopathy should be included in the broad spectrum of mitochondrial cytopathies, especially in cases of melas syndrome. This mutation should also be included in the etiologies of secondary focal segmental glomerulosclerosis and in the differential diagnosis of Alport syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
4/286. Case report on SHORT syndrome.The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short Stature, Hyperextensibility of joints and/or inguinal hernia, Ocular depression, Rieger anomaly, and Teething delay. Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, delayed bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes. To our knowledge 19 cases of SHORT syndrome have been reported (Gorlin et al., 1975; Sensenbrenner et al., 1975; Aarskog et al., 1983; Toriello et al., 1985; Lipson et al., 1989; Schwingshandl et al., 1993; Verge et al., 1994; Bankier et al., 1985; Brodsky et al., 1996; Sorge et al., 1996; Haan and Morris, 1998). We report the twentieth patient diagnosed with SHORT syndrome who presented with growth retardation, sensorineural hearing loss, and minor dysmorphic features, consistent with the phenotype described for this syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
5/286. Topless optic disk syndrome without maternal diabetes mellitus.PURPOSE: To describe four cases of topless optic disk syndrome without maternal diabetes mellitus. METHOD: Four patients had incidentally discovered inferior visual field defects. RESULTS: Ophthalmoscopic examinations in all four patients disclosed superiorly displaced entrances of the central retinal artery and thinning of the superior peripapillary nerve fiber layers. One patient had a superior peripapillary crescent with pallor of the superior disk. These clinical findings were consistent with a diagnosis of superior segmental optic hypoplasia, the topless disk. None of the patients had mothers who had diabetes. CONCLUSIONS: The topless optic disk syndrome can occur in the absence of maternal diabetes mellitus.- - - - - - - - - - ranking = 7keywords = diabetes (Clic here for more details about this article) |
6/286. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1beta are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe genital malformations. The sequence of the HNF-1beta gene ( TCF2 ) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1beta, a region implicated in the specificity of dna binding. Functional studies of R137-K161del HNF-1beta revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1beta gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal genital malformations in two females suggests that additional clinical features may be associated with HNF-1beta mutations.- - - - - - - - - - ranking = 7keywords = diabetes (Clic here for more details about this article) |
7/286. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypoplasia/agenesis, and dysmorphism occurring within a highly consanguineous family. This constellation of abnormalities has not previously been described. Two of these cases are sisters and the third case is a female first cousin. The pattern of inheritance suggests this is a previously undescribed autosomal recessive disorder. prenatal diagnosis of the condition in this family was possible by demonstration of the absence of the cerebellum and severe IUGR.- - - - - - - - - - ranking = 6keywords = diabetes (Clic here for more details about this article) |
8/286. The double-crush phenomenon--an unusual presentation and literature review.The double-crush syndrome was initially described by Upton and McComas in 1973. They postulated that nonsymptomatic impairment of axoplasmic flow at more than one site along a nerve might summate to cause a symptomatic neuropathy. This was suggested by their clinical observation that the majority of their patients had a median or ulnar neuropathy associated with evidence of cervicothoracic root lesions. They also hypothesized that one of the constraints on axoplasmic flow could be a metabolic neuropathy, and this is supported by the high association of diabetes and carpal tunnel syndrome. Other researchers have since reported series of patients supporting the frequent association of a proximal and distal nerve compression syndrome, including carpal tunnel syndrome associated with cervical radiculopathy, brachial plexus compression, and diabetic neuropathy. Subsequently, MacKinnon and Dellon have expanded the description of this syndrome to include a) multiple anatomic regions along a peripheral nerve, b) multiple anatomic structures across a peripheral nerve within an anatomic region, c) superimposed on a neuropathy, and d) combinations of the above. We present an unusual case of symptomatic nerve compression caused by two nonanatomic structures within an anatomic region.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
9/286. delayed diagnosis of glucagonoma syndrome.The classical presentations of necrolytic migratory erythema associated with alpha cell pancreatic tumour have been well documented. In addition, the occurrence of extracutaneous hallmarks of this disease such as weight loss, diabetes, anaemia, stomatitis and diarrhoea have been described in various reports. Here we report three cases with glucagonoma syndrome. Early detection is important in view of the malignant course of the disease. However, diagnosis is sometimes complicated by the fact that some patients may fail to show the characteristic feature of glucagonoma syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
10/286. Erdheim Chester disease: a rare cause of knee and leg pain.A case of Erdheim Chester disease in a 51-year-old Turkish patient is described. Erdheim Chester disease is a rare form of lipoid granulomatosis. knee and leg pain are the most common symptoms, and physicians working in orthopaedics and traumatology are the first to be consulted. Our patient demonstrated a typical bilateral, symmetric sclerosis of the metaphyseal region of long bones of the lower extremity, histologic examination revealed foamy, lipid-loaded histiocytes. The patient also suffered from arterial hypertension, diabetes insipidus and exophthalmos of the left eye. The diagnosis was confirmed by a bone biopsy, and the patient was treated with non-steroidal anti-inflammatory drugs, corticosteroids and vincristine.- - - - - - - - - - ranking = 6.527853607505keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
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