A case of congenital short gut is reported in a 4-month-old boy presenting with failure to thrive. Upper gastrointestinal examination (UGI) with small bowel follow-through (SBFT) demonstrated dilation of the duodenum and jejunum, with rapid transit to rectum. On barium enema (BE), rapid transit of barium was noted to the dilated proximal small bowel seen on UGI/SBFT. Neither study delineated the ileocecal region, and the overall length of bowel appeared short. The diagnosis of congenital short gut was confirmed at surgery. Congenital short-gut syndrome is a rare entity. The diagnosis can be suggested by imaging, but is usually confirmed operatively.
We report posterior mediastinal hemangiomas in a 4-month-old and a 6-month-old girl. The masses were identified on radiographs of the chest followed by contrast-enhanced CT. Histological evaluation of the surgical specimens established the final diagnosis. Although mediastinal hemangiomas have been described, they remain a rare entity. A diagnosis can be suggested by relatively high attenuating masses on contrast-enhanced CT. Posterior mediastinal hemangiomas sometimes mimic neuroblastomas, which is the most common posterior mediastinal in this age group.
A 28-year-old G3 P1 SAB1 female with no prior health concerns was found to have a foetus with short femurs on prenatal ultrasound following an abnormal maternal serum screen result. Fluid obtained by amniocentesis revealed an elevated α-fetoprotein level with absence of an acetylcholinesterase band and normal male karyotype (46,XY). Follow-up ultrasound 3 weeks later again demonstrated short femur lengths, but no other abnormalities. At birth, the child was noted to have multiple dysmorphic features, including short humeri and femurs, coarse facial features, retrognathia and yellowish hypertrophic gums in addition to hyperbilirubinaemia and thrombocytopenia. Radiological studies demonstrated bony demineralization with profound diaphyseal cloaking in the long bones. Genetic testing diagnosed I-cell disease.
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