Definition
Hereditary neonatal diarrhea characterized by microvillus abnormalities
Alternate/Historical Names
Davidson syndrome
Familial enteropathy
Familial microvillous atrophy
Microvillous inclusion disease
Diagnostic Criteria
Severe intractable diarrhea presents in first week of life
Rarely as late as 60 days
Severe villous atrophy
No crypt hyperplasia
No inflammation
PAS/d, polyclonal anti-CEA, CD10 stains highlight microvillus abnormalities in small intestine
Loss of brush border
Apical cytoplasmic positivity
May be recognizable as microlumina
Electron microscopy reveals loss of brush border and presence of apical cytoplasmic microlumina lined by microvilli
Autosomal recessive
Rare
Differential Diagnosis
Presentation at birth, lack of inflammation and presence of intracytoplasmic microlumina exclude other causes of villous atrophy and diarrhea
Enteroendocrine Cell Dysgenesis Microvillus Inclusion Disease
Normal villi
Severe villus atrophy
Intestinal endocrine cells markedly decreased or absent
Normal intestinal endocrine cells
Normal enterocyte cytoplasm
PASd positive apical cytoplasmic inclusions (microlumena)
Normal brush border
Loss of brush border
Markedly decreased or absent endocrine cells
Endocrine cells present
Both present with neonatal diarrhea and lack significant inflammation
Microvillus Inclusion Disease Abetalipoproteinemia
Apical cytoplasmic microlumena
Foamy cytoplasm filled with fat vacuoles
Severe villus atrophy
Normal villus length
Both present with neonatal diarrhea and lack significant inflammation
Bibliography
Groisman GM, Amar M, Livne E. CD10: a valuable tool for the light microscopic diagnosis of microvillous inclusion disease (familial microvillous atrophy). Am J Surg Pathol. 2002 Jul;26(7):902-7.
Phillips AD, Schmitz J. Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr. 1992 May;14(4):380-96.
Robert V Rouse MD
Original posting : November 11, 2009
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