Microvillous Inclusion Disease

Background

This rare disorder, also known as MID, causes a severe refractory diarrhea in neonates. Patients present with a severe watery diarrhea within the first few days of life.

SYNONYMS Familial or congenital microvillous atrophy

EPIDEMIOLOGIC ASSOCIATIONS CHARACTERIZATION

Consanguinity Has been reported

PATHOGENESIS CHARACTERIZATION

Autosomal recessive transmission
Possible defect in subcellular protein trafficking leading aberrant assembly of microvili within intracytoplasmic vesicles, rather than at the apical cell surface

This defect may be secondary to:

Abnormal interaction between the cytoskeleton and vesicular transport
Inability of apically targeted vesicles to fuse with the apical surface
Inefficienty recycling of membrane components
Transport defect in an unidentified exocytic pathway

Enterocyte apoptosis and proliferation are increased
Hum Pathol 2000;31:1404-1410
TUNEL and Ki-67 identified significant differences between normal and MID patients

Apoptosis may be an important factor in cell loss and may be partly responsible for villous atrophy

Crypts are hyperplastic and not hypoplastic

GROSS APPEARANCE/CLINICAL VARIANTS CHARACTERIZATION

General Primarily a disease of the small intestine but has been described in the large intestines, stomach, gallbladder, and kidney

VARIANTS

Late onset disease J Pediatr Gastroenterol Nutr 1992;14:380-396

HISTOLOGICAL TYPES CHARACTERIZATION

General Diffuse villous atrophy without inflammatory changes

VARIANTS

SPECIAL STAINS/IMMUNOPEROXIDASE/OTHER CHARACTERIZATION

Special stains Hum Pathol 1993;24:1232-1237
PAS, CEA, and alkaline phosphatase show a strong apical cytoplasmic staining in surface enterocytes instead of the normal linear brush border reactivity

PROGNOSIS AND TREATMENT CHARACTERIZATION

Prognostic Factors

Survival Poor
Usually die from long term complications of TPN

Treatment Supportive with total parenteral nutrition (TPN)

J Pediatr Gastroenterol Nutr 1998;22:405-408
Combined bowel-liver transplantation

N Engl J Med 1989;320:646-651

Commonly Used Terms

Gastrointestinal Tract

Last Updated 12/25/2000

EPIDEMIOLOGIC ASSOCIATIONS	CHARACTERIZATION
Consanguinity	Has been reported

GROSS APPEARANCE/CLINICAL VARIANTS	CHARACTERIZATION
General	Primarily a disease of the small intestine but has been described in the large intestines, stomach, gallbladder, and kidney
VARIANTS
Late onset disease	J Pediatr Gastroenterol Nutr 1992;14:380-396

HISTOLOGICAL TYPES	CHARACTERIZATION
General	Diffuse villous atrophy without inflammatory changes
VARIANTS

SPECIAL STAINS/IMMUNOPEROXIDASE/OTHER	CHARACTERIZATION
Special stains	Hum Pathol 1993;24:1232-1237 PAS, CEA, and alkaline phosphatase show a strong apical cytoplasmic staining in surface enterocytes instead of the normal linear brush border reactivity

PROGNOSIS AND TREATMENT	CHARACTERIZATION
Prognostic Factors
Survival	Poor Usually die from long term complications of TPN
Treatment	Supportive with total parenteral nutrition (TPN)
	J Pediatr Gastroenterol Nutr 1998;22:405-408 Combined bowel-liver transplantation