Movement Disorder Associated With Foreign Body Ingestion.

We present a case of recurrent bouts of irritability with arching, head extension, and lethargy in a previously healthy 10-month-old girl admitted to the PICU for acute onset of a movement disorder. The patient's vital signs and physical examination were unremarkable but recurrent bouts of abnormal movements persisted for the first 10 hours of admission in the PICU. Possible diagnoses, such as meningitis, status epilepticus, space occupying lesions, and toxic ingestions, were ruled out because of negative cerebrospinal fluid analysis, normal EEG, and negative results of other ancillary tests. On the second day of admission, an abdominal radiograph was obtained because intussusception was considered a probable diagnosis due to recurrent episodes of arching and lethargy. The abdominal radiograph revealed the presence of a 15-mm radiopaque foreign body in the right lower quadrant corresponding to the anatomic location of the ileocecal valve. The patient made an uneventful recovery after she spontaneously passed a 1.5 cm by 1 cm rock (15 mm) in her stool on the third day of admission. This case highlights the need for a high index of suspicion for unwitnessed ingestion of a foreign body in a previously healthy preschool child with sudden onset of a movement disorder.

Possible Noninvasive Biomarker of Eosinophilic Esophagitis: Clinical and Experimental Evidence.

Eosinophilic esophagitis (EoE) diagnosis and follow-up response to therapy is based on repeated endoscopies and histological examination for eosinophils/HPF. The procedure is invasive and risky in particular for the pediatric population. Presently, there is no highly sensitive and specific noninvasive blood test available to monitor the disease pathogenesis. Reports indicate the expression of PDL1 (CD274) on the eosinophils in allergic patients. Herein, we report that CD274-expressing and -nonexpressing eosinophils were detected in both examined pediatric and adult EoE patients. We show that CD274 expression on blood eosinophils and blood mRNA expression levels increase in the blood of EoE patients and decrease following treatment. These observations are consistent with the esophageal eosinophilia of before and after treatment in both examined patients. These two clinical and experimental analysis reports provide the possibility that the CD274 mRNA and CD274-expressing esinophil levels may be novel possible noninvasive biomarkers for EoE.

Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia.

We have identified a constitutional inversion in chromosome 5 associated with familial adenomatous polyposis in three generations of a Mexican family. Two of three siblings developed hepatic neoplasia in infancy. The gene truncation assay failed to demonstrate a truncated protein in the segment harboring the adenomatous polyposis coli (APC) genes. Polymerase chain reaction (PCR) amplification of APC gene coding exons and sequencing of PCR products did not reveal any significant mutation. The data suggest that in this family, the phenotype may be the result of a "position effect."