Benign focal epilepsy of childhood and gastroesophageal reflux

AG SHEEHAN, S PELENSKY, C V<A,N ORMAN, SR MARTIN. Benign focal epilepsy of childhood and ~ux. Can J Gastroenterol 1994; 8( l ):45-48. Gastrnesophageal te6m( has~ iwociated with, and implicated in, a number of conditions, inc~teSl)~ disease (recurrent pneumonia, chronic cough, asthma), sudden infiot dead>. syndrome, dysphagia and central nervous disorders. An eight-year-old girl p:.ented with an acute history that suggested gastroesophageal reflux. AD~~l motility study was abnormal and 24 h pH study demonstrated~ reflux. Before the manometric study, a seizure was ob~erved and ~l\eU(Ological evaluation confirmed the diagnosis of benign focal epilepsy of dilldhood, which was treated with carbamazepine. The symptoms resolved after eight weeks and the repeat reflux investigations were essentially normaL Ompbuyngeal symptoms are common in benign focal epilepsy of childhood, a condition which is very responsive to therapy. Symptoms suggestive of this dlagnostS acute onset, with unusual oropha1y ngeal sensations, or seizures-occUl;ring mainly at night may initially be confused with gastroesophageal reflux. Benign focal epilepsy of childhood should he considered in reflux presenting outside infancy.

B ENIGN FOCAL EPILEPSY OF CHILD- hood (BFEC) is defined by five main characteristics.It is age-related, beginning between the ages of two and 13 years, with a spontaneous remission during adolescence ( 1).It occurs in otherwise normal children without neurological or intellectual deficit; in the majority of cases the seizures are partial, with motor signs frequently associated with somatosensory symptoms, and are sleep-related in 75% of patients.The incerictal electroencephalogram displays a spike focus locate<l in the centrotempora l (rolandic) area with normal background activity.
A patient is presented with BFEC, whose clinical history and marked oropharyngeal symptoms initially suggested gastroesophageal reflux which was confirmed in a 24 h pH study.
C linical symptoms and documented reflux resolved with seizure therapy.We suggest that gastroesophageal reflux may occur in BFEC and may account for the marked oropharyngeal symptoms described in this condition.

CASE PRESENTATION
An eight-year-old Caucasian girl presented to the gastrocnterology clinic of Alberta Children's Hospital with a seven-week history of 'retching episodes', abdominal pain and choking spells.The patient described episodes beginning with an unusual sensation arising in her stomach, which would oropharynges sont frequents clans l'cpilcpsie partielle bcnigne infantile, une maladie qui repond tres bien au traitement.Les symptomes qui concordenr avec ce diagnostic sont le declenchement rapide, les sensations oropharyngees inhabituelles ou !es convulsions survemmt surtout la nuit et la possibilite d'une confusion initiate accompagnant le reflux gastro-oesophagien.L'epilepsie partielle benigne infantile doit etre envisagce lorsqu'il y a reflux, si l'enfant n'est plus un nourrisson.The patient's physical examination was essentially unremarkable.Her weight was 30 kg (above the 50th percentile), her height was 134.5 cm (on the 90th percentile) and she had normal vital signs.
Investigations revealed a normal complete blood count, electrolytes, glucose, blood urea nitrogen, creatinine, total protein, albumin, liver function tests, amylase and lipase.Urinalysis was unremarkable.A barium swallow demonstrated no evidence of anatomical obstruction, showing only mild gastroesophageal reflux.
The patient's initial symptoms, which preceded the retching and coughing, suggested that gastroesophageal reflux was precipitating these episodes, so an esophageal motility study, 24 h pH study (Table 1) and esophageal biopsy were carried out without sedation.On insertion of the motility catheter, however, the patient deve loped central cyanosis with twitching movements of her eyelids lasting 2 mins, during which she was unresponsive to voice.The catheter was withdrawn and after she had recovered from the episode the motility study was carried out without problem.T he lower esophageal sphincter pressure was extremely low.Normal peristaltic swallow waves were demonstrated in the esophageal body but the upper esophageal sphincter showed extremely high pressures (Table 1).The 24-hour pH study proved co be grossly abnormal (Table 1).Esophageal biopsy, from 3 cm above the lower esophageal sphincter, was normal.
In view of the seizure activity that had occurred during the study, a neurological opinion was sough t, and an electroencephalogram and computerized tomographic (CT) scan of the brain were performed.The electroencephalogram was abnormal with a sharp spike focus in the right central region, the field of distribution extending into the right midtemporal and midfrontal areas; CT scan was normal.The findings were considered to be diagnostic of BFEC and the patient was started on carbamazepine.Because of the abnormal pH study and the concern that acidification of the esophagus might be stimulating seizures, she was also started on ranitidine.In the following weeks, the patient's seizure episodes gradually reduced in frequency and severity, and eight weeks later had stopped completely.
Two weeks after disconttnuing rarntidine, the motility study and 24 h pH study were repeated.The lower esophageal sphincter pressure was again low but the upper esophageal sphincter pressure was normal.Repeat 24 h pH study on this occasion was entirely different from the previous one, the only abnormality being nn increase in mnnber of reflux episodes.An esophageal biopsy was not repeated because it was previously normal.The patient remains asymptomatic on carbamazepine.

DISCUSSION
Primary gastrocsophageal reflux is commonly seen in infancy with an estimated incidence of l :500 ( 4 ).The majority of these patients have functional reflux which may be perceived as a developmental d isorder which resolves in most patients by age four years ( 5).A small percentage of these patients may develop pathological gastroesophageal reflux associated with dysphagia, esophagitis, strictures, poor growth, respiratory problems or Sandifer's syndrome, and these patients usually require chronic medical therapy or surgical intervention (5,6).
In addition, in infancy-but more so in childhood -gastroesophageal reflux may occur as a secondary phenomenon in other <lisease states, cg, cystic fibrosis (7) and motility disorders of the esophagus ( 8), but most commonly in association with central nervous system d isorders (9).A recent report described the association of gastroesophageal reflux with brain-stem glioma in three infants, the suggested mechanism being that the tumour infiltration of the brain-stem impaired neurogenical contro l of esophageal motility, resu lting in gastroesophageal reflux (10).This report <lcscri bes gastroesophageal reflux in association with untreated BFEC, further supporting the central influence on esophageal function.
RFEC' is the most common type of partial minor epilepsy in childhood, accounting for 11 .5 to 25% of the epilepsies of ~chool-age children (11 ).Oropharyngeal symptoms arc reporred by more than half rhe patients and include hypcrsali vation with inability to swallow, 'sounds from the throat', gurgling noise as if the child were about to vom1r, moven1l'nts nf the mouth and speec h arrest Jue to tonic or clonic phenomena m volving the mouth (anJ probably the larynx) (1,11 ).In the case descnhed here, we documented severe gastroesophageal reflux over 24 h before commencing therapy for seizures due to Bf-TC.A repeat stuJy after eight weeb of anricon vu lsant therapy demonstrated a dramatic reduction in number and duration of reflux episodes (Table I).Jc was fortuitous that during insertion of the motility catheter, the patient developed an episode of eyelid twi tching and cyanosis which her mothe r had not previously described (possibly since most episodes occurred in sleep).The very high upper esophageal sphincter pressure demonstrated afterwards was no longer evident on repeat stud y e ight weeks after carbamazepine therapy.Lability of upper esophageal sphincter pressure has been described previously (12)(13)(14); reductiorn, in pressure occur wi th sedation and increases occur with esophageal acidification, arousal, emotiona l st ress and 111creased abdom111a l and tho racic.pressure Jue to stra ining.We cannot discount the possible effects of a seizure within the previous 10 or 15 mins, al- Gastroenterology 1983;85:301-5.4. Boyle J Gastroesophageal reflux m the though the patient was not drowsy and was not experiencing any symptoms du ring the study.The measured upper sphincter pressure was well above that previously dcscriheJ in studies of factors increasing upper esophageal sphincter pressure, and the tnplc lumen, continuously perfused catheter system used here ha::-hcen thought to underestimate the true sphi ncter pressure compared with sleeve catheters ( l 2-14).Perhaps high upper esophageal sphincter pressure explaim the 'lump in rhe throat' feeling and the hypersal1vatilln that is descnbed 111 this form of partial epilepsy.Possibly it is a protective mechamsm to prevent aspiration from gastroesophageal reflux during these episodes.
The pathophysiological mechanisms of gastroesophageal reflux are multifactorial.Enological mechanisms include a low basal sphincter pressure, inappropriate sphincter rclaxanon which is en he r synchronous or asynchronous with swallowing, and transient increases in intra-abdominal or gastric pressure alone or in comh111ation with the above mechanisms (15,16).Resting tone in the lower esophageal sphinc ter 1s influenced hy neural factors.The typical electroencephalogram seen in BFEC is that of centrotemporal spikes on normal ha<.kgroundactivity.Perhaps discharges from this area md1recrly lead to mappropriatc relaxation of the lower esophageal sphmcter, resulting m reflux, and an assoc iated e levation in uppediatric patient.Gastmenternl Clin Nllrth Am 1989;18:315-37.
per esophageal sphincter pressure.lt is possible that centrally ml.!diated me(han1sms play a higger role 111 the pachophys1ology of gastrocsophageal reflux rhan is realized; iJcally, m dus case, chi~ might have bl.!en examined wtth simultaneous electrocnci.!phalogram and esophageal pl I mon1tonng.Due to the frequency llf sei:urcs, we were unable ro ohtam pt:nmsston to perform these further studies, but they should be considered 1f the opportunity arise:,, 111 future <.<1scs.CONCLUSIONS C,astroesophageal reflux, whteh 1s common in infancy, b,s commonly presents in childhood.In the appropri ate settmg, one should consider the possibility llf an associated unde r lying disease state.HFE< 1s the most common fo rm of p,irtial t:pilepsy in childhood and, 111 the abse nce of observed seizures, the clinical history of ornpharynge,11 symptoms may suggest gastroe,ophagcal reflux.In the presented GN:, reflux was do<.umenced 111 assoc ia ti on with RFEC which rcsolve<l with trl'Htmcnt of the epil epsy.G iven the like lihood of central effects on esophageal functmn , further studies arc required of oth l.!r ch ildren with BFEC or cnmplcx partial ~e1zurcs with oropharyngeal phenomena to evaluate the prc~cncc of gastroesophageal reflux anJ to ohra111 more precise infor mation on the effoct of seizure activity on upper esophagl.'alsph111ctcr pressure.