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Archivos de Pediatría del Uruguay

On-line version ISSN 1688-1249


MORAES CASTRO, MARIO et al. Intolerancia congénita a la lactosa y hepatoesplenomegalia: A propósito de un caso. Arch. Pediatr. Urug. [online]. 2004, vol.75, n.4, pp.320-322. ISSN 1688-1249.

We describe a case of a child with a congenital intolerance to lactose, which presented with poor weight gain, vomiting and hepatosplenomegaly. The tests demonstrated proteinuria, elevated liver enzymes, presence of reducing factors in urine which corresponded to lactose and generalized aminoaciduria. A lactose-free diet was rapidly followed by a clinical improvement and normalization of tests. The congenital intolerance to lactose is a rare disorder. The disease was described originally by Durand in 1958. Clinically the disease presents with vomiting, poor weight gain and lactosuria starting soon after birth if the newborn is breast-fed or given a lactose-containing formula. The clinical manifestations may include renal impairment due to generalized aminoaciduria and tubular acidosis, hepatic dysfunction manifested by elevation of the liver enzymes and in some cases ocular involvement. We stress the importance of considering this disease in all patients presenting with vomiting and malnutrition during the first months of life given that this is a potentially fatal disease if lactose isn’t suppressed from the child’s diet.


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