Skip to Main Content

++

Diabetes mellitus and insipidus with optic nerve atrophy, mental retardation and deafness.

++

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness; DIDMOAD.

++

Genetic syndrome that was first described by D.J. Wolfram in 1938.

++

Unknown; males and females are equally affected.

++

Autosomal recessive.

++

Caused by a mutation in the gene encoding wolframin (WFS1) on chromosome 4p16.1. Another locus for the disorder has been mapped to 4q (WFS2). Marked atrophy and degeneration is seen in the pons, the medullary reticular activating system, substantia nigra, superior and inferior olives, and the cerebellum. Microscopically, neuronal loss and axonal destruction, often accompanied by gliosis, is apparent, together with scattered areas of demyelination in the cerebrum and cerebellum, without inflammatory change.

++

A combination of juvenile-onset diabetes mellitus and optic nerve atrophy plus one or more of the following: anosmia, brainstem signs (gaze palsies, nystagmus, dysarthria, dysphagia, primary respiratory failure), deafness, seizures or myoclonus, ataxia, axial rigidity, neuropsychiatric or cognitive abnormalities, neurogenic incontinence or dilated urinary tract, hyporeflexia or areflexia, extensor plantar responses, diabetes insipidus, and family history.

++

Diabetes mellitus, diabetes insipidus, optic nerve atrophy, sensorineural hearing loss, autonomic dysfunction, cardiomyopathy, mental retardation, seizures, nystagmus, hydronephrosis, megaloblastic anemia, sideroblastic anemia, neutropenia, thrombocytopenia.

++

A complete evaluation of the cardiac function (clinical, ECG, echocardiography) must be obtained. Evaluate neurological function (clinical, EEG, CT scan), hematology, and biochemistry.

++

Perioperative fluid regimen should be adapted to diabetes insipidus. The use of regional anesthetic technique, especially neuraxial approach, must consider the potential for autonomic dysfunction and hemodynamic instability. A close control of preand intraoperative glycemia must be done.

++

Consider interaction between anesthetic drugs and antiepileptic treatment. Avoid enflurane. Consider renal function and whether beneficial to use aminoglycosides.

++

Wolfram Syndrome, Mitochondrial Form with Vasopressin Deficiency: Low erythrocyte thiamine pyrophosphate. Low thiamine pyrophosphokinase activity. Heteroplasmic mtDNA deletion. Mild hyperlactatemia.

Ajlouni K, Jarrah N, El-Khateeb M, et al: Wolfram syndrome: Identification of a phenotypic and genotypic variant from Jordan. Am J Med Genet 115:61, 2002.  [PubMed: 12116178]
El-Shanti H, Lidral AC, Jarrah N, et al: Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 66:1229, 2000.  [PubMed: 10739754]
Minton JA, Rainbow LA, Ricketts C, et al: Wolfram syndrome. Rev Endocr Metab Disord 4:53, 2003.  [PubMed: 12618560]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.