Intestinal microvillous atrophy and transient neuronal dysplasia

Microvillous Atrophy

“…In fact, only 4 cases from the literature had antenatal symptoms consisting of hydramnios or echogenic bowel. Among these 4 cases, 2 mothers had a strict follow-up because of health problems, whereas the third baby had a neuronal intestinal dysplasia with bowel dilatation (5)(6)(7)(8). Antenatal echography therefore seems to have a limited role for prenatal diagnostic here and in the literature.…”

“…The diarrhea persists all along the life, even under total parenteral nutrition (10). Some authors reported MVID-associated abnormalities including cardiac malformations, facial dysmorphia, transient neuronal dysplasia, aganglionic megacolon, Down syndrome, intrahepatic cholestasis, or hypochondroplasia (5,(11)(12)(13)(14)(15)(16).…”

“…MVID was described for the first time by Davidson et al (4). Gestation is most often unremarkable (5)(6)(7)(8). The diarrhea usually occurs within the first days of life or less often during the second month of life (9).…”

“…This abnormal staining pattern is pathognomonic of the disease. Vacuolated epithelial cells can be observed (5,11,12,24). These alterations may also affect the colon (10) or the gastric mucosa (25).…”

Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance

“…In 47 of these 72 cases, the presence or absence of bowel dilation and/or polyhydramnios was stated ( Supplementary Table S1A,B ; Figure 1 A), and in 25 of these 72 cases, the presence or absence of pregnancy complications was stated ( Supplementary Table S1C ; Figure 1 A). Some cases reported bowel dilation and/or polyhydramnios while reporting uneventful pregnancy for the same case [ 19 , 20 ]. The stated absence of pregnancy complications, as such, is therefore not a reliable indicator for the absence of fetal bowel dilation and/or polyhydramnios.…”