Wittwer syndrome

Overview

A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech.

Symptoms

* Growth retardation * Failure to thrive * Blindness * Hearing loss * Dysmorphic features

Causes

❑birth trauma (inadequate oxygen supply to the brain, blood incompatibility, or hemorrhage) ❑perinatal infection ❑anoxia (after respiratory or cardiac arrest) ❑infectious diseases (meningitis, encephalitis, or brain abscess) ❑ingestion of toxins (mercury, lead, or carbon monoxide) ❑tumors of the brain ❑inherited disorders or degenerative disease, such as phenylketonuria or tuberous sclerosis ❑head injury or trauma ❑metabolic disorders, such as hypoglycemia or hypoparathyroidism ❑stroke (hemorrhage, thrombosis, or embolism).

Treatment

Generally, treatment of epilepsy consists of anticonvulsant therapy to reduce the number of future seizures. The most commonly prescribed drugs include phenytoin, carbamazepine, phenobarbital, gabapentin, or primidone administered individually for generalized tonic-clonic seizures and complex partial seizures. Valproic acid, clonazepam, and ethosuximide are commonly prescribed for absence seizures. Gabapentin and felbamate are also anticonvulsant drugs. A patient taking anticonvulsant medications requires monitoring for toxic signs: nystagmus, ataxia, lethargy, dizziness, drowsiness, slurred speech, irritability, nausea, and vomiting. If drug therapy fails, treatment may include surgical removal of a demonstrated focal lesion to attempt to stop seizures. Emergency treatment of status epilepticus usually consists of diazepam (or lorazepam), phenytoin, or phenobarbital; dextrose 50% I.V. (when seizures are secondary to hypoglycemia); and thiamine I.V. (in chronic alcoholism or withdrawal).