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Esophageal Multichannel Intraluminal Impedance and Ph MAEDICA – a Journal of Clinical Medicine 2014; 9(4): 391-394 Mædica - a Journal of Clinical Medicine CAASESE RREPORTEPORT Esophageal Multichannel Intraluminal Impedance and pH Monitoring in the Evaluation of Achalasia and Gastroesophageal Reflux Disease in a Child with Down Syndrome: a Case Report Mihai-Mirel STOICESCUa; Mihai MOCANUb; Felicia GALOSa; Mihai MUNTEANUb; Simina VISANb; Coriolan ULMEANUa; Mihaela BALGRADEANa a”Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania b”Marie Sklodowska Curie” Emergency Children’s Hospital, Bucharest, Romania ABSTRACT We report the case of a rare association between achalasia and Down syndrome in a child present- ing with symptoms that suggest a gastroesophageal reflux. Evaluation of the patient with 24-hour multichannel intraluminal impedance and pH recording and upper endoscopy lead to the diagnosis of achalasia. However, the persistence of the symptoms after the concurrent surgical myomectomy and fundoplication has led to repeat pH-impedance monitoring testing and endoscopy, which identified the presence of gastroesophageal reflux disease. We emphasize in this paper the importance of multichannel intraluminal impedance and pH monitoring in detecting esophageal motility disorders. INTRODUCTION line reflux. Because impedance catheters have multiple sets of impedance-measuring rings, ombined multichannel intralumi- bolus movement and direction (antegrade or nal impedance and pH recording retrograde) can be assessed (1). (MII-pH) in the esophagus has Normal standards for MII-pH are not yet es- been available for more than fif- tablished in children, but it allows one to in- teen years for the study of fluid crease the accuracy of observations during Cmovement in the esophagus. It reliably detects esophageal pH-monitoring and draw relevant solid, liquid, gas and mixed liquid-gas reflux conclusions (2). episodes in suspected cases, and correlates In this paper we present a case of rare as- them with concurrent pH measurements. sociation of achalasia and gastroesophageal re- MII-pH allows to detect all episodes of re- flux disease (GERD) in a child with Down syn- flux regardless of its content (liquid, gas, and drome and comorbid conditions, where the mixed) and its pH, that is to recognize episodes combined multichannel intraluminal imped- of acidic reflux, weakly acidic reflux, and alka- Address for correspondence: Mihai-Mirel Stoicescu, „Marie Sklodowska Curie” Emergency Children’s Hospital, 20 Constantin Brancoveanu, Bucharest, Romania. E-mail: [email protected] Article received on the 10th of November 2014. Article accepted on the 5th of December 2014. Maedica A Journal of Clinical Medicine, Volume 9 No.4 2014 391 ESOPHAGEAL MULTICHANNEL INTRALUMINAL IMPEDANCE AND PH MONITORING ance-pH recording was useful in establishing • Failure to thrive. the diagnosis and monitoring the outcome of Symptom onset was loosely estimated by surgical and medical therapy. the mother to the age of four. The child was known to have Down syn- CASE REPORT drome and Legg–Calvé–Perthes disease, the latter being managed with applied orthoses 6-year-old male child was referred to our that restricted the sitting position. A Department of Pediatric Surgery accusing The patient was referred to our Department the following: of Gastroenterology and, based on clinical pre- • Chronic vomiting sentation and history, the child was initially di- • Occasional head dystonia (opistotonus) agnosed with gastroesophageal reflux and pro- • Food refusal ton pump inhibitors were prescribed. One month later, the lack of response to drug therapy prompted us to perform esopha- geal MII-pH monitoring and an upper endos- copy to assess the degree of reflux and the presence and nature of esophagitis (GERD esophagitis, eosinophillic esophagitis). A Digitrapper® pH-Z equipment (Given I maging, Israel) was used to monitor pH and impedance according to the standard protocol. A pediatric-sized combined 6-channel imped- ance pH-metry catheter was placed transna- sally. The initial position of the pH sensor was cal- culated according to the Strobel formula and a chest X-ray performed to check the accuracy of the placement. The child’s mother was asked to keep a di- ary during the whole monitoring, recording the timing of meals and the occurrence of symp- toms, which was later transferred to the digital recording. FIGURE 1. Low baseline tracings in the inferior MII channels. Due to the inadequate accuracy of current software analysis, the tracing was manually re- viewed by a human operator. Contrary to the expectations, the MII-pH tracings demonstrated low baseline impedance levels in the distal channels, which can occur both in chronic esophagitis and achalasia (Fi- gure 1). The next day, the patient was sedated and an upper endoscopy was performed showing a lax, dilated esophagus with fluid residues, ab- sence of propulsive contractions, resistance to cardial intubation and mucosal changes due to food retention (yellowish deposits, thickening of the mucosa) (Figure 2). A diagnosis of achalasia was made, further confirmed by a barium swallow the following day. Drug therapy was stopped and in the next FIGURE 2. Dilated lower esophagus of the patient at upper endoscopy. weeks the child underwent a laparoscopic 392 Maedica A Journal of Clinical Medicine, Volume 9 No.4 2014 ESOPHAGEAL MULTICHANNEL INTRALUMINAL IMPEDANCE AND PH MONITORING Heller myotomy with Toupet fundoplication, On the other hand, gastroesophageal reflux with full postoperative recovery. Postoperative- is the most common condition associated with ly, the child was given proton pump inhibitors chronic vomiting and failure to thrive in the pe- for three months. diatric population, with a peak incidence in At the 2 months follow up the patient was infancy and adolescence. It tends to subside symptom free and weight gain was restored, after 12 months of age, becoming increasingly but at three months post procedure, vomiting rare in preschool and school aged children. and lack of appetite reappeared, later followed Therefore, the initial presentation in our by neck dystonia, all of which raised concerns case report suggested a gastroesophageal re- regarding a possible myotomy failure. flux, and the initial treatment was aimed at this Therefore, a new esophageal MII-pH was diagnosis. It was as the treatment failed to show scheduled and performed after a seven-days results that further investigations were perfor- drug-free period. The new tracing demon- med. strated this time low to normal baseline imped- Several other reasons led us to believe the ance values and an increased number of reflux symptoms are due to gastroesophageal reflux episodes, indicating the presence of a gastro- only: the presence of Down’s syndrome, the esophageal reflux disease. mental impairment of the patient and the neck A second upper endoscopy revealed muco- dystonia (suggesting a Sandifer syndrome). sal erythema of the distal esophagus and small, After performing the surgical cure of achala- less than 5 mm long, nonconfluent erosions sia and the symptoms’ persistence, several pos- (Grade A esophagitis according to the Los An- sible explanations arose to account for this: geles classification). Multiple mucosal biopsies persistence of achalasia (surgical failure), gas- from the distal esophagus confirmed the diag- troesophageal reflux as a complication of sur- nosis of GERD esophagitis. gery or the presence of a gastroesophageal re- The child was given proton pump inhibitors flux unmasked by the removal of the motor and a sodium alginate preparation for three esophageal obstacle. months. Two months later, the symptoms had This is where the pH-impedance monitor- abated and a repeat upper endoscopy revealed ing became a useful diagnostic tool, ruling out complete microscopic mucosal healing of the the persistence of achalasia in our patient and esophagitis. detecting an abnormal number of gastroesoph- ageal reflux episodes. DISCUSSION Multichannel intraluminal impedance com- bined with pH monitoring records esophageal chalasia is a rare esophageal motor disor- events with a probe placed transnasally and der, linked in some patients to markers on A connected to a portable data recorder. The chromosome 12 q13 and inherited in an auto- method allows the detection of reflux based on somal recessive manner. It has been associated with other conditions such as Allgrove Syn- changes in resistance to the electrical current drome (achalasia, adrenocorticotropic hor- flow between several electrodes alongside the mone insensitivity, alacrima) (3), familial vis- catheter, when the bolus moves between them. ceral neuropathy, achalasia microcephaly The direction of the bolus movement is made syndro me, Parkinson’s disease and depressive possible by the simultaneous recording at dif- di sorders (4,5). The illness is a rare condition in ferent levels. Combined pH-MII catheters are children, with an estimated incidence in ge- available for every age group of pediatric pa- neral population of 1 case per 10,000, of which tients, from infants to adolescents (7). fewer than 5% manifest symptoms before the The presence of a low baseline impedance age of 15 years. The mean age at the time of in the tracings has been commonly associated diagnosis in the pediatric patients, taken from a with mucosal inflammation related to esopha- recompilation of all of the pediatric series avai- geal acid exposure and hypothesized to be a lable was 8.8 years (6). marker of microscopic changes of the esopha- Achalasia presents
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