Convulsions benign familial neonatal dominant form
Overview
A rare dominantly inherited type of epilepsy that occurs in newborns. The seizures can occur during sleep or while awake and may be partial or generalized
Symptoms
* Tonic-clonic seizures * Increased risk of myokymia later in life * Increased risk of epilepsy later in life
Causes
* Hypoxic ishemic encephalopathy * Bacterial meningitis/sepsis * Stroke * Cerebral dysgenesis * Electrolyte disturbances –Hypoglycemia –Hyponatremia –Hypomagnesemia –Hypocalcemia * Maternal drug use –Drug withdrawal after delivery –Direct effect of drugs, such as cocaine * Congenital infections (TORCH) –Toxoplasmosis –Syphilis –Rubella –CMV –HSV * HSV encephalitis -- Intracranial hemorrhage –Subdural hemorrhage –Intraparenchymal hemorrhage –Intraventricular hemorrhage in the premature infant –Subarachnoid hemorrhage * Urea cycle disturbances * Smith-Lemli-Opitz syndrome * Nonketotic hyperglycinemia * Pyridoxine deficiency * Fructose dysmetabolism * Amino acidurias –Maple syrup urine disease –Proprionic acidemia * Molybdenum cofactor deficiency * Mitochondrial encephalopathy * Glucose transporter deficiency -- Benign etiologies –Benign idiopathic neonatal seizures (fifth day fits) –Benign familial neonatal seizures * Movements commonly mistaken for seizures –Benign neonatal sleep myoclonus –Jitteriness (may be secondary to hypoglycemia, drug withdrawal, or idiopathic) –Gastroesophageal reflux (arching, writhing) –Breath-holding spell
Prognosis
Prognosis of Convulsions benign familial neonatal dominant form: the epilepsy usually stops within a few months of birth in most cases
Treatment
* Evaluate and secure airway, breathing, and circulation –Benzodiazepines or phenobarbital infused intravenously can stop the seizures * If there is reason to suspect hypoglycemia, even if blood glucose level cannot be quickly established, treat with glucose intravenously * Treat hypocalcemia with calcium gluconate * Treat hypomagnesemia with magnesium sulfate * Meningitis and HSV encephalitis require intravenous antibiotics and acyclovir, respectively * Depending on the etiology, the infant may stay on phenobarbital for varying duration of time * Glucose transporter deficiency can be treated with ketogenic diet * For pyridoxine deficiency, pyridoxine 50–100 mg injected intravenously during an EEG recording can be both diagnostic and therapeutic