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Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
A teratoma with malignant transformation is a very rare form of teratoma that may contain elements of somatic malignant tumors such as leukemia, carcinoma, or sarcoma. [35] Of 641 children with pure teratoma, nine developed TMT: [47] five carcinoma, two glioma, and two embryonal carcinoma (here, these last are classified among germ cell tumors).
Diabetes insipidus (DI) is a condition characterized by large amounts of dilute urine and increased thirst. [1] The amount of urine produced can be nearly 20 liters per day. [ 1 ] Reduction of fluid has little effect on the concentration of the urine. [ 1 ]
Maturity-onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. [1] Along with neonatal diabetes , MODY is a form of the conditions known as monogenic diabetes.
Neonatal diabetes is classified into three subtypes: permanent, transient, and syndromic; each with distinct genetic causes and symptoms. [5] Syndromic neonatal diabetes is the term for diabetes as just one component of any of several complex syndromes that affect neonates, including IPEX syndrome, Wolcott-Rallison syndrome, and Wolfram ...
Benign sacrococcygeal teratomas are more likely to develop in younger children who are less than 5 months old, and older children are more likely to develop malignant sacrococcygeal teratomas. The Currarino syndrome , due to an autosomal dominant mutation in the MNX1 gene, consists of a presacral mass (usually a mature teratoma or anterior ...
Speech disorder and/or developmental delay 2. Ophthalmic abnormalities other than rod-cone dystrophy (strabismus, cataract, astigmatism etc.) 3. Brachydactyly or Syndactyly 4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5. Ataxia, poor coordination, imbalance 6. Mild spasticity (especially lower limbs) 7. Diabetes mellitus 8.
Diabetes insipidus a type of diabetes (excess urination) unrelated to diabetes mellitus. Diabetes mellitus A disease that occurs when the body is not able to use dietary carbohydrates (e.g., sugar, starch, ...) as it should. Caused by lack of insulin, inability to respond to insulin, or both. Diabetic amyotrophy