Most patients with Wolfram syndrome have diabetes mellitus and bladder dysfunction in combination with diabetes insipidus. The dose escalation of desmopressin for the treatment of diabetes insipidus should be carefully done because demopressin may cause hyponatremia. If the sodium in your blood is too low, you have a condition called hyponatremia. You need some sodium in your bloodstream to control how much water is in and around the cells in your body. As a result of low sodium, the amount of water in your body rises and causes your cells to swell. This can lead to many different problems. Some of them are mild. Others can be serious and even life-threatening. Hyponatremia is a common clinical problem in patients with Wolfram syndrome that requires careful management.
Anxiety and depression are commonly seen. Psychosis is seen in some patients but not very common. A consultation with a psychiatrist is recommended. Anxiety and depression are treatable in standard way. Cognitive function is usually normal in patients with Wolfram syndrome, especially in younger patients.
Headache may be related to autonomic dysfunction or neuropathy. Some patients experience sharp and stabbing unilateral pain similar to trigeminal neuralgia. A consultation with a neurologist is recommended. Carbamazepine or amitriptyline has been shown to be effective in some patients.
Autonomic neuropathy is commonly seen in patients with Wolfram syndrome. Signs and symptoms include orthostatic hypotension, anhidrosis, hypohidrosis, hyperhidrosis, constipation, gastroparesis, hypothermia, and hyperpyrexia. A thorough history and review of systems may reveal most of these complaints. Gastrointestinal conditions can be managed by changes in diet, small frequent meals, increased fiber diet, and increased water intake.
Brain stem atrophy is a prominent feature that often results in death secondary to central apnea. Polysomnography, as well as overnight oximetry test, can be used as screening studies. Central apnea should be managed by a pulmonologist. Some patients may require tracheostomy.
Wolfram syndrome is characterized by progressive neurodegeneration. The most common problem is ataxia. Cerebellar ataxia should be assessed yearly or twice a year by neurologists. Dysarthria and swallowing disorders (dysphagia) are commonly seen. Swallowing treatment by a speech-language pathologist is beneficial for patients to prevent aspiration pneumonia. Surgical procedures, including esophageal dilation and esophagomyotomy, have been shown to be effective in some patients. Oral hygiene and dental care are important because dysphagia may lead to the impaired clearance of organisms and pathogenic colonization.
Sensorineural hearing loss is one of the common symptoms of Wolfram syndrome and observed in around 70 % of patients. The hearing loss affects the high frequencies first and progresses relatively slowly. Routine audiometry is recommended every year or every 2 years. Auditory brainstem response (ABR) audiometry should be performed at diagnosis to confirm the pathophysiology and examine the efficacy of any treatments. Management includes hearing aids and cochlear implant. Hearing manifestations in Wolfram syndrome should be carefully examined because dominant mutations in the WFS1 gene are a
common cause of low-frequency sensorineural hearing loss, which is different from Wolfram syndrome. These patients develop low-frequency sensorineural hearing loss but do not develop other symptoms seen in patients with Wolfram syndrome, such as diabetes mellitus and ataxia.
Structural and functional urinary tract abnormalities are commonly seen in patients with Wolfram syndrome and significantly affect quality of life. Yearly assessment of renal function, measurement of postvoid residual urine volume by ultrasound, a renal ultrasound, and urodynamic testing are recommended. A large atonic bladder, a low-capacity, high-pressure bladder with sphincteric dyssynergia, and hydroureteronephrosis are common manifestations. Both bladder dysfunction and upper urinary tract dilatation are primary manifestations although these symptoms may be partially affected by diabetes mellitus and diabetes insipidus. The treatment options for bladder dysfunction include anticholinergic drugs and clean intermittent catheterization. Electrical stimulation and physiotherapy have been effective in some patients.
Recurrent urinary tract infection (UTI) is one of the most common clinical challenges in patients with Wolfram syndrome. The bladder dysfunction caused by the central and peripheral neurologic dysfunction is thought to be the underlying cause of UTI. Urine culture is recommended for Wolfram patients with fever or other symptoms, such as headache. Inflammatory conditions associated with UTI may cause headache and other symptoms.
About 60 percent of people with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early adulthood. Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain’s inability to control breathing (central apnea), loss of the sense of smell, loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression, and impulsive and aggressive behavior.
In diabetes insipidus, the pituitary gland, which is located at the base of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, which helps control the body’s water balance and urine production. Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus.
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