22 August 2022
: Case report
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 Janjua1AEF*, Shiva Shankar1CDEF, Munira AlMaazmi1E, Devendrasing Vijaysing Jadhav1FDOI: 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 |