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DIDMOAD syndrome in a Libyan family
Annals of Tropical Paediatrics
|March 1, 1986
Insights
DIDMOAD syndrome, a rare genetic disorder, affects three siblings with diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Early diagnosis and management with desmopressin and insulin are crucial for patient survival.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- The syndrome diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) is a rare genetic disorder.
- DIDMOAD syndrome presents with a constellation of endocrine and neurological symptoms.
Abstract:
We report three Libyan children from one family with the syndrome diabetes insipidus, diabetes mellitus, optic atrophy and deafness, (DIDMOAD). Two children presented with diabetic ketoacidosis while one was discovered during screening of the family. All three children are alive, two of them on desmopressin (DDAVP) and insulin therapy and one on DDAVP only.