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Table 2 Pathology assessment of four patients with neonatal-onset watery diarrhea

From: Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia

 

Age (procedure)

H&E staining

TEM assessment

Patient 1

11 months (endoscopy)

Rectum: active and chronic inflammation; cryptitis; 10 ± EOS/HPF

ND

26 months (endoscopy)

Colon: chronic inflammation; tufts or teardrop appearance; eosinophils and plasma cells infiltration

ND

27 months (surgery)

Stomach: chronic gastritis; submucosal edema, hyperemia

Jejunum: villous blunting; tufts at villus tips; lymphocyte infiltration in the epithelial layer; prominent inflammatory cell infiltration in lamina propria

Ileum: focal mucosal erosion and hyperemia; lymphocyte infiltration; tufts at villus tips

Colon: tufts or teardrop appearance; hyperemia; edema

Jejunum: focal loss of microvilli and disorganized cellular junctions;

Colon: focal loss of microvilli

31 months (endoscopy)

Stomach: chronic gastritis

Ileum: chronic inflammation; tufts at villus tips

ND

34 months (surgery)

Colon: mucosal hyperemia, edema, and erosion; tufts or teardrop appearance

ND

40 months (surgery and endoscopy)

Ileum: villous blunting or missing; tufts at villus tips; submucosal lymphoid hyperplasia

Colon: chronic mucosal inflammation; tufts or teardrop appearance; inflammatory cell infiltration in lamina propria

ND

Patient 2

43 days (endoscopy)

Duodenum: villous atrophy; disorganized epithelium

Ileum: villous atrophy; crowded epithelial cells

Colon: chronic inflammation; villous atrophy

Ileum: flattened microvilli; swollen epithelial cells and slightly dilated endoplasmic reticulum; interstitial edema; infiltration of lymphocytes and plasma cells

Patient 3

4 days (surgery)

Ileum: hyperemia, edema, and lymphocyte aggregates; a proliferation of submucosal fibrous tissue

Colon: hyperemia, edema, and lymphocyte aggregates; a proliferation of submucosal fibrous tissue

ND

Patient 4

71 days (endoscopy)

Duodenum: hyperemia, edema, and prominent lymphocyte infiltration; villous blunting

Ileum: hyperemia, edema, and prominent lymphoid aggregates; villous blunting

Ileum: focal loss of microvilli; swollen epithelial cells; infiltration of interstitial plasma cells, lymphocytes, and eosinophils

  1. EOS eosinophil, HPF high power field, TEM transmission electronic microscopy, H&E hematoxylin–eosin, ND no data