Esophageal Pancreatic Acinar Heterotopia: Premalignant or Benign.

Dysphagia, which refers to difficulty swallowing, can be caused by benign pathologies of the esophagus such as gastroesophageal reflux disease which is the most common cause. There are also malignant pathologies such as esophageal carcinoma which should be excluded during the initial clinical evaluation of a patient. Esophageal pancreatic acinar heterotopia (EPAH) is an exceedingly rare finding and an uncommon differential for dysphagia. A search of the literature yielded few previously reported cases. In general, the reported prevalence of pancreatic acinar heterotopia ranges from 16% to 24% in asymptomatic patients and 3% in patients with a known history of Barrett's esophagitis. It has been found in patients ranging from as young as 1 day old to an incidental autopsy finding. Here, we present a brief literature review and a case of a 57-year-old man with severe dysphagia who was discovered to have EPAH in the gastroesophageal junction, associated with active inflammation and focal metaplasia.

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon - closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain, face and their skeletal support.