Megalocornea mental retardation syndrome
Overview
Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable.
Symptoms
* Reduced muscle tone * Downward slanting eyes * Epicanthal folds * Broad nasal base * Large corneas * Underdeveloped iris * Fleshy ears * Long fingers * Mental retardation * Unsteady iris during eye movement * Vision impairment * Psychomotor retardation * Incoordination
Causes
* Partial seizure (involve only part of the brain) –Simple (no altered consciousness) –Complex (with altered consciousness) * Generalized seizure (involve both hemispheres) –Tonic-clonic –Atonic –Tonic –Myoclonic –Absence * Epilepsy –Recurrent unprovoked seizures of any or multiple types, which may be idiopathic or symptomatic o Secondary seizure –Metabolic abnormalities (e.g., electrolyte disturbances, hypoglycemia) –Drug effects, intoxication, or withdrawal –Head injury/trauma –Febrile seizures in children –Structural lesions (e.g., tumor, subdural hematoma) –Cerebrovascular etiologies (e.g., cerebral infarct, intracerebral hemorrhage, subarachnoid hemorrhage –Hypoxic-ischemic encephalopathy –Infection (e.g., meningitis, encephalitis) –Hypoxia o Nonepileptic seizure –Not associated with abnormal electrical activity in the brain –Patients with loss of consciousness secondary to cerebral hypoperfusion (fainting, syncope) may occasionally exhibit brief periods of twitching or convulsive movements resembling seizure activity –Psychological disturbances (pseudoseizure) o Inborn errors of metabolism –Disorders of amino acid metabolism –Organic acidemias –Urea cycle disorders –Mitochondrial disorders –Peroxisomal disorders –Glycogen storage disorders –Disorders of sugar metabolism o Rasmussen's encephalitis –Causes seizures and progressive hemispheric dysfunction in infants
Diagnosis
Home medical tests related to Megalocornea mental retardation syndrome: * Concentration -- Home Testing * ADHD -- Home Testing * Mental Health: Home Testing: o Home Emotional Stress Tests * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests
Treatment
* Generalized status epilepticus (continuous or recurrent seizure activity without a return to baseline for >30 minutes) is a medical emergency and should be treated aggressively with IV antiepileptic medications * Remove offending intoxicants or medications * Correct metabolic abnormalities as necessary * Numerous anticonvulsant medications are available for acute and chronic use –Select the most appropriate agent on the basis of the clinical situation, seizure type, and side effect profile –Combination anticonvulsant therapy may be effective for patients refractory to a single agent * Vagus nerve stimulators are effective in patients refractory to anticonvulsant therapy * Epilepsy surgery also may be effective in controlling seizures in carefully selected surgical candidates who are refractory to chronic anticonvulsant medication * Lifestyle modification and avoidance of triggers (e.g., sleep deprivation, alcohol)