[Familial hypobetalipoproteinemia with steatorrhea and malabsorption].
Harefuah
; 121(9): 286-90, 1991 Nov 01.
Article
en He
| MEDLINE
| ID: mdl-1800274
ABSTRACT
In a family in which the father was the mother's uncle, 3 of the 7 children were affected by a syndrome of malabsorption with various clinical symptoms. Diarrhea appeared in 2 of the children at birth, and in the third child at six months. The diarrhea led to failure-to-thrive, muscular wasting and abdominal swelling. However, the children improved spontaneously over the years. During childhood all 3 had manifest steatorrhea. Serum cholesterol was between 39 and 100 mg/dl, while triglycerides were normal to high. Reevaluation during the past year revealed areflexia, deficiency of vitamins A and E and of apoproteins A and B, and prolonged PT time in 2 of the children. Electron and light microscopy of small intestinal biopsies revealed vacuoles in the enterocytes. Electrophysiological tests revealed major disturbances in sensory conduction and brain-stem function. These cases differ from those described in the literature. Although in hypobetalipoproteinemia, 1 of the parents would be expected to be heterozygous and have low serum levels of APO B, in this family the parents had normal levels. Their children had low levels of serum APO A, while in patients with hypobetalipoproteinemia the levels are normal. There is a report of a case of deficiencies of both apolipoproteins, but the patient was asymptomatic, had chylomicronemia after a prolonged fast, and lower cholesterol levels than our patients. 8 other cases of apolipoprotein deficiency have been reported with biochemical characteristics similar to those of our patients, but with retention of chylomicrons in the small intestine.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad Celíaca
/
Hipobetalipoproteinemias
Tipo de estudio:
Etiology_studies
Límite:
Child, preschool
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
He
Revista:
Harefuah
Año:
1991
Tipo del documento:
Article
Pais de publicación:
IL
/
ISRAEL