The Clinical Utility of Antroduodenal Manometry in the Evaluation of Children with Upper Gastrointestinal Symptoms.

OBJECTIVES: Antroduodenal manometry (ADM) measures antral and small bowel motility and is clinically used to evaluate upper gastrointestinal (UGI) symptoms. We aimed to evaluate its utility in guiding treatment, predicting response, and association with clinical findings. METHODS: Retrospective review of 200 children undergoing ADM. ADM interpretation and parameters were compared to outcomes (response to first therapy after ADM and overall response), predominant symptom (group A, abdominal distention and/or vomiting and group B, abdominal pain and/or nausea), etiology (idiopathic or with known comorbidity), and ADM indication [suspected chronic intestinal pseudo-obstruction (CIPO) or unexplained UGI symptoms]. RESULTS: We found an association between a normal intestinal phase III of the migrating motor complex (MMC) and idiopathic etiology, group B symptoms and unexplained UGI symptoms. No variable was associated with initial successful response. However, normal small bowel phase III of the MMC and idiopathic etiology were associated with overall successful response to treatment (including feeding tolerance and weaning of parenteral nutrition). No antral ADM parameter was associated with outcomes or other comparisons. The time to overall successful treatment response was significantly shorter in patients with a normal ADM and presence of a normal phase III of the MMC. CONCLUSIONS: The presence of the phase III of the MMC was the single ADM parameter predictive of overall treatment response, also associated to group B symptoms and idiopathic etiology. Our findings suggest that small bowel ADM parameters are more useful to predict outcomes and ADM should be performed primarily in patients presenting with abdominal distention and/or vomiting and those being evaluated for CIPO.

Aerophagia due to abdomino-phrenic dyssynergia in a 2-year-old child.

We report the case of a previously healthy 2-year-old child who presented with significant abdominal distension. After several interventions that proved ineffective, pathologic aerophagia was eventually diagnosed. In pediatrics, pathologic aerophagia is an uncommon disorder that almost exclusively affects children with an underlying neurological condition. It may lead to multiple diagnostic tests and unnecessary aggressive therapies. A recent case report associated aerophagia with a novel concept of abdomino-phrenic dyssynergia.

Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

BACKGROUND: Primary growth hormone insensitivity (GHI) and triple A syndrome are rare autosomal recessive disorders. CASE REPORT: The patient, a 12-year-old boy from consanguineous parents, was referred for short stature at the age of 7 years (height: -5.4 SD score). He had low serum insulin-like growth factor I (IGF-I) and IGF binding protein 3 and a blunted IGF-I response to recombinant human GH; molecular analysis of the GH receptor disclosed a homozygous A(-1)→G(-1) at the 5' pseudoexon 6Ψ splice site. Recombinant IGF-I therapy (mecasermin, Increlex®, twice daily) initiated at the age of 9 years resulted in an increase of height velocity (HV) from 4.0 to 9.5 cm/year. At the age of 10.5 years, he presented with asthenia, anorexia, weight loss, a decrease in HV and very low cortisol levels; adrenal insufficiency was confirmed and glucocorticoid therapy was initiated. Subsequent peripheral motor neuropathy, achalasia and alacrima raised the suspicion of triple A syndrome, which was confirmed by the presence of a homozygous R194X mutation in the AAAS gene. CONCLUSION: This unusual combination of diseases, to our knowledge, has not been reported to date. Although the patient responded to recombinant IGF-I therapy for GHI, we hypothesize that the treatment could have had an inhibitory effect on 11ß-hydroxysteroid dehydrogenase type 1 activity, thereby reducing the availability of cortisol and precipitating adrenal insufficiency.