1/6. Nuchal-type fibroma in two related patients with Gardner's syndrome.Nuchal-type fibroma is a distinct subcutaneous and dermal fibrous tissue proliferation that has been previously definitely identified in one patient with Gardner's syndrome and has been possibly present in two others. Gardner's syndrome is an autosomal-dominant condition with variable expressivity that comprises epidermoid cysts, fibrous tumors, osteomas, intestinal polyposis, as well as other findings. We report two cases of nuchal-type fibroma presenting in a 13-year-old boy in the right upper back and in his 60-year-old grandfather in the upper chest at the posterior axillary line. Both individuals carried a diagnosis of Gardner's syndrome and neither of them had diabetes. Although the boy has as of now only presented with cutaneous manifestations of Gardner's syndrome, his grandfather has exhibited both cutaneous and intestinal evidence of this syndrome. In addition, the boy's mother and her sister have documented Gardner's syndrome. light microscopic findings of nuchal-type fibroma from both patients include paucicellular, haphazardly arranged collagen bundles with entrapped adipose tissue. A marked diminution of elastic fibers was noted with Van-Gieson stains. The lesions were diffusely positive for CD34 and contained a few factor xiiia-positive cells. Electron microscopic analysis revealed no differences between the collagen comprising the nuchal-type fibroma as compared with control dermal collagen obtained from skin away from the tumor. These cases strengthen the view that there is an association between nuchal-type fibroma and Gardner's syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
2/6. Neonatal diabetes mellitus: A rare but important diagnosis in the critically ill infant.diabetes mellitus is a heterogeneous disorder that may occur at any age. Neonatal diabetes mellitus, defined as hyperglycaemia presenting within the first 6 weeks of life in term infants, is a rare disorder that may result in permanent or transient diabetes mellitus. Although reported in paediatric diabetes literature, there are no reports of this condition in emergency medicine journals and these children may present to emergency departments with a picture mimicking sepsis. We report the case of a 5-week-old infant with diabetes mellitus who presented with diabetic ketoacidosis and review the literature surrounding this rare condition.- - - - - - - - - - ranking = 25.989875781541keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
3/6. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.A review of 88 cases from the literature with personal observations on 3 new patients is given of the syndrome featured by juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities. The postmortem in one of our cases is mentioned. The pattern of inheritance is autosomal recessive. The interpretation of the data on diabetes insipidus from the literature and in our three patients is also discussed. It can only be stated that neurohypophyseal diabetes insipidus can be a component of the syndrome and that in many cases--particularly in the presence of lesions of the efferent urinary tract--the possibility of nephrogenous diabetes insipidus can not be excluded with certainty. It seems probable that the same mechanism can be held responsible for the lesions of the olfactory, optic, vestibular and cochlear nerves, the hypophyseal form of diabetes insipidus, retarded sexual maturation, abnormal pupillary reaction, myelopathy and the electro-encephalographic, electroneurological and electromyographic changes in the wolfram syndrome. The process underlying this affection of neural structures remains obscure.- - - - - - - - - - ranking = 26.523725373288keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
4/6. Inherited diseases in North American Mennonites: focus on Old Colony (Chortitza) Mennonites.The patterns of migration and the genetic disorders occurring among North American Mennonites are reviewed, and inherited conditions recently recognized in a religious and genetic isolate, the Old Colony (Chortitza) Mennonites, are described. Old Colony Mennonites are of Dutch/German origin and descend from approximately 400 founding families who settled in the Old Colony, Chortitza (the ukraine, ussr) in the late 1700s, and then migrated to canada and Central and south america in the past century. We investigated over 6 generations of a Canadian Old Colony kindred in which there was extensive intermarriage, and in whom 28 individuals developed diabetes mellitus. insulin-dependent diabetes mellitus (IDDM) occurred in 14 affected individuals in 10 closely related sibships; the 11 living IDDM patients were all concordant for the immunogenetic marker HLA-DR4. Fourteen close relatives had other disorders of carbohydrate metabolism, including gestational diabetes and non-insulin-dependent diabetes mellitus. Other close relatives had autoimmune diseases, including rheumatoid arthritis, hyper- and hypothyroidism, multiple sclerosis, and red cell aplasia. Other inherited diseases, including Alport syndrome, congenital defects, and inborn errors of metabolism were also found in the kindred. In the almost exclusively (99%) Old Colony Mennonite public health district in which the kindred was ascertained, there were multiple cases of tourette syndrome, of malformations (including congenital heart defects and cleft lip /- palate), and familial clusters of inborn errors of metabolism. We report this Old Colony (Chortitza) Mennonite isolate because 1) there are large familial aggregations of tissue-specific autoimmune diseases, malformations, inborn errors of metabolism, and of some other conditions whose genetic basis is still unknown; 2) there are multiple cases of rare genetic conditions, 3) we have established a computerized genealogic data base on over 1,000 kindred members as well as a cryopreserved lymphocyte/dna bank on over 100 closely related individuals with various genetic conditions; and 4) this religious isolate, which extends across North, Central, and south america, offers an excellent opportunity for studying the epidemiology and molecular genetics of both common and rare inherited diseases.- - - - - - - - - - ranking = 12.114322935425keywords = diabetes mellitus, diabetes, insulin-dependent, mellitus (Clic here for more details about this article) |
5/6. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus, all of which appeared when they were between 30 and 50 years old. All had serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The dentate nucleus, thalamus, putamen, caudate nucleus, and liver of each one showed low signal intensities on T1- and T2-weighted magnetic resonance images. Examination of the central nervous system revealed severe destruction of the basal ganglia and dentate nucleus, with considerable iron deposition in neuronal and glial cells, whereas the cerebral cortex showed mild iron deposition in glial cells without neuronal involvement. An electron microscopic study with energy-dispersive x-ray analysis showed iron depositions in the hepatocytes, of both the neural and glial cells of the brain. We consider this a new disease entity because of the primary ceruloplasmin deficiency.- - - - - - - - - - ranking = 3.5047450746577keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
6/6. Hereditary caeruloplasmin deficiency: clinicopathological study of a patient.A 58 year old patient with dementia, oral dyskinesia, and diabetes mellitus is described. He had an undetectable concentration of serum caeruloplasmin, as an autosomal recessive trait. brain MRI disclosed a pronounced hypointensity in the bilateral putamina, caudate, and dentate nuclei on both T1 and T2 weighted images. Pathological findings were mainly in those regions of the brain and consisted of neuronal cell loss with gliosis, heavy iron deposition, and spheroids. Visceral organs also had iron deposition, especially severe in the liver and pancreas. The present patient and other recorded cases constitute a clinicopathological entity of hereditary caeruloplasmin deficiency, different from Wilson's disease.- - - - - - - - - - ranking = 3.5047450746577keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |