Clinical and manometric characteristics of Allgrove syndrome.

OBJECTIVE: The association of adrenocorticotropic hormone (ACTH) insensitivity with achalasia and alacrimia (Allgrove syndrome, 3A) constitutes a rare multisystem disorder. Its evolution is not well known. The aim of this study was to describe clinical and esophageal manometric characteristics and outcomes in Allgrove syndrome. PATIENTS AND METHODS: This multicenter retrospective study compared clinical and manometric characteristics at diagnosis and on follow-up of 9 children presenting with 3A (mean age at diagnosis 7.1 years) with those of 9 children with idiopathic achalasia (IA) (mean age at diagnosis 8.3 years). RESULTS: At the time of diagnosis, 3 children with 3A presented with no digestive or respiratory signs because they were identified during a family screening; 1 remained asymptomatic 8 years later. ACTH levels were high in patients with 3A. All of the patients with IA were symptomatic at diagnosis. No significant difference was observed when comparing any of the manometric parameters of the first esophageal manometry of 3A with those of IA. Seven children with 3A were operated on using the Heller procedure, completed by pneumatic esophageal dilation in 2 of these 7. One patient with 3A was treated only by nifedipine. Failure of treatment was observed in 3 children with 3A and 1 child with IA, partial success in 4 with 3A and 1 with IA, and total success in 2 with 3A and 7 with IA (P < 0.03). Control manometry showed that in the 3A group, partial success after surgery was always associated with abnormally low or normal lower esophageal sphincter (LES) pressure, whereas failure after surgery was associated with high LES pressure. CONCLUSIONS: Our data showed that 3A presented a more severe course than IA despite presymptomatic diagnosis in cases of family screening. The high LES pressure noted in some patients with 3A is suggestive of a peculiar pattern in 3A affecting the LES and the lower part of the esophagus.

Assessment of dysphagia in infants with facial malformations.

In infants with facial malformation, dysphagia is frequent and can lead to respiratory and nutritional complications whatever the phenotype. The aim of our study was to assess the severity and mechanisms of dysphagia in infants with facial malformations in order to guide therapeutic management. Forty-two newborn infants with dysphagia and recognizable malformation patterns other than isolated Pierre Robin sequence had: (1) needle electromyography (EMG) of muscles of the face, tongue, and soft palate; (2) two-channel EMG during bottle feeding; and (3) esophageal manometry (EM). The results were compared by clinical dysphagia-grading groups and by age at cessation of enteral feeding. Although micrognathia (86%) and cleft or high-arched palate (76%) were common, the key clinical finding that correlated with the likelihood of respiratory complications was glossoptosis (p<0.01). EMG signs of denervation correlated with respiratory complications (p<0.05) and the duration of enteral feeding (p<0.01). EMG during bottle feeding showed disturbed motor organization at the pharyngeal level in 27 of 37 patients. The severity of pharyngeal incoordination correlated with the duration of enteral feeding (p<0.025). All 21 patients examined by EM had dysfunction at the esophageal level. Thus, in the assessment of upper digestive tract dysfunction, our clinical grading system, EMG, and EM yield convergent information that is relevant to the management of dysphagic infants with facial malformations. Much of the information is obtainable only from EMG.

Motor dysfunction of the upper digestive tract in Pierre Robin sequence as assessed by sucking-swallowing electromyography and esophageal manometry.

OBJECTIVES: To evaluate motor dysfunction in infants with Pierre Robin sequence (PRS) who manifest upper airway obstruction and congenital dysphagia. STUDY DESIGN: Term infants (n = 28) with nonsyndromic PRS were studied between days 15 and 45. Sucking-swallowing electromyography was used to evaluate suction and coordination between the oral and pharyngeal phases of swallowing. Esophageal manometry was used to study the lower esophageal sphincter, esophageal body, and upper esophageal sphincter functions. Manometry results were compared with those of 16 infants with gastroesophageal reflux disease (GERD). RESULTS: Electromyography showed incoordination of sucking and swallowing in 24 of 28 patients. The disorder was mild in 6, moderate in 6, and severe in 12 patients. All patients showed manometry disturbances: incomplete or asynchronous lower sphincter relaxation (15), multipeaked esophageal body waves (17), very high amplitude waves (14), and asynchronous upper sphincter relaxation (19). The frequency of disturbances and mean resting pressures of both lower and upper sphincters were significantly higher than GERD patients. CONCLUSION: In Pierre Robin sequence, sucking-swallowing electromyography and esophageal manometry reveal dysfunction in the motor organization of the tongue, the pharynx, and the esophagus.