This report describes an infant with vomiting and significant weight loss attributable to cricopharyngeal achalasia, a rare finding in children. The infant responded to balloon dilation of the upper esophageal sphincter, with resolution of symptoms and return to presymptomatic growth parameters. A brief description of the clinical features, diagnostic evaluation, and treatment options for cricopharyngeal achalasia is included.
Congenital amegakaryocytic thrombocytopenia is a rare disorder causing thrombocytopenia that progresses to pancytopenia and bone marrow failure if untreated. It is caused by variants in the MPL gene which encodes the thrombopoeitin receptor. In this report, we review 5 cases of congenital amegakaryocytic thrombocytopenia, all of whom belong to the Mississippi Band of Choctaw Indians. There are 2 common variants in these cases: R90X and R537W. One variant was previously reported only once and had unclear significance at that time. With these variants identified, we hope to improve screening that results in earlier diagnosis in the Choctaw population in the future.
CommentaryMichael J. Nowicki, MD 2
Resident RoundsThe following Brief Report was written by a resident. A discussion by a member of the resident's faculty follows. We invite any resident to submit such articles, together with commentary by a faculty member.
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