Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case is reported of a 32-year old women of Dutch origin who presented with diabetes insipidus, diabetes mellitus, atrophy of the optic nerve, and dilatation of the urinary tract, the combination known as "DIDMOAD syndrome". Unusual features of this case were regional atrophy of the cerebellum and the pons, and hydrocephalus internus which were associated with alterations of personality and mental function. The clinical symptoms of the syndrome simulated "essential" type 1 diabetes with advanced complications such as retinopathy and autonomous and peripheral neuropathy. The presence of diabetes insipidus with polyuria and polydipsia was not recognized for years because the symptoms were ascribed to diabetes mellitus. The neurologic and psychological symptoms in this patient suggest a more generalized defect of the central nervous system in this syndrome than has been observed previously. Recognition of the condition is of importance because it requires specific therapeutic measures (e.g. for diabetes insipidus), and because of the genetic and prognostic implications.
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PMID:[DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) with cerebello-pontine atrophy]. 707 80

The pathophysiology of brain damage induced by severe hypoglycemia is still unknown. We experienced a case with type 1 diabetes and recurrent severe hypoglycemic coma who showed a central brain atrophy and an abnormal cerebrospinal fluid flow, suggesting normal pressure hydrocephalus. Following this case, the CSF flow was studied using 111In-DTPA cisternography in six consecutive diabetic patients admitted for repeated episodes of hypoglycemic coma. All the patients showed the central brain atrophy on computed tomography and four of them (67%) had the ventricular reflux, with delayed clearance of 111In-DTPA. Two patients with abnormal CSF flow showed cognitive dysfunction by WAIS or WAIS-R. In contrast, none of five randomly selected diabetic patients, without hypoglycemic coma showed abnormal CSF flow. Our results suggest the presence of normal pressure hydrocephalus in diabetic patients with recurrent hypoglycemic coma. It may associate with the cognitive dysfunction.
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PMID:Normal pressure hydrocephalus in diabetic patients with recurrent episodes of hypoglycemic coma. 1067 Sep 9

We describe the case of a newborn presenting with multicystic encephalomalacy, hydrocephalus and bilateral hemovitreous. An underlying coagulation disorder was suspected and laboratory tests revealed severe protein C deficiency. At 25 days of life, after the appearance of purpura fulminans, replacement therapy with intravenous protein C concentrate (Ceprotin; Baxter, Vienna, Austria) was started.Due to difficulties in getting peripheral venous access and to repeated loss of the venous access, continuous subcutaneous infusion of protein C was started with an insulin pump (VEO 754; Medtronic, Minneapolis, Minnesota, USA), normally adopted in patients with type 1 diabetes mellitus. Protein C values increased into the normal range and the resolution of the purpuric skin lesion was achieved. Chronic prophylaxis with low-molecular-weight heparin failed and, due to cutaneous and cerebral recrudescence, replacement therapy with the pump was started again. The insulin pump allowed us to reduce the number of injections per day and to deal with the difficulties in getting peripheral venous access, permitting medical and paramedical staff an easier management of the therapy. The dosing schedule could be easily adapted with the insulin pump and the continuous subcutaneous administration of small amounts of protein C concentrate prevented fluctuation in trough levels of protein C. This is the first reported case of a novel, successful use of an insulin pump in an extremely rare disease, to administer a drug different from insulin, which needs to be further analyzed, underlining the importance of a multidisciplinary team approach in order to provide effective and efficient care in high-complexity diseases.
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PMID:Continuous subcutaneous infusion of protein C concentrate using an insulin pump in a newborn with congenital protein C deficiency. 2450 41