22 August 2022: Articles
MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report
Challenging differential diagnosis, Unusual or unexpected effect of treatment, Rare disease
Dalwinder Janjua A* , Shiva Shankar C , Munira AlMaazmi E , Devendrasing Vijaysing Jadhav FDOI: 10.12659/AJCR.937057
Am J Case Rep 2022; 23:e937057
Table 1. Patient characteristics.
| Constitutional karyotype | 46XY |
| SAMD9 mutation | p.Arg1293Trp |
| Ethnicity | Middle East |
| Gestation at Delivery | 34+5 weeks |
| IUGR | Present |
| Adrenal insufficiency | Severe: Right adrenal gland absent, very small left adrenal gland |
| Genitourinary malformation | Ambiguous genitaliaRight kidney hydronephrotic, left kidney small and dystrophic with parenchymal calcification |
| Hematological manifestation | No |
| Infection | Yes |
| Gastrointestinal | Osmotic diarrhea, colonic dilatation |
| Respiratory | Chronic lung disease |
| CVS | Patent foramen ovale |
| CNS | Seizures, subdural hematoma, ischemic changes in the brain |
| Eyes | Dry eyes |
| Others | Hypothyroidism, oropharyngeal incoordination |