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Lactose intolerance associated with cataracts

Y Hirashima, S Shinozuka, T Ieiri

    European Journal of Pediatrics
    |January 18, 1979
    PubMed
    Summary
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    Severe lactose intolerance in a 50-day-old infant presented with vomiting, dehydration, metabolic acidosis, and bilateral cataracts. Neurological issues including abnormal scans and myoclonic spasms developed later, highlighting the systemic impact of this condition.

    Area of Science:

    • Pediatrics
    • Metabolic Disorders
    • Ophthalmology

    Background:

    • Lactose intolerance is a common digestive disorder.
    • Severe cases can lead to significant failure to thrive and dehydration.
    • Early diagnosis and management are crucial for infant health.

    Observation:

    • A 50-day-old infant presented with severe lactose intolerance symptoms.
    • Clinical manifestations included vomiting, failure to thrive, dehydration, metabolic acidosis, and amino aciduria.
    • Bilateral cataracts were also noted as an unusual comorbidity.

    Findings:

    • The infant experienced progressive neurological deterioration.
    • Abnormal computerized axial tomography scan and electroencephalogram findings were documented at three months.

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  • Myoclonic spasms commenced at seven months of age.

    • Implications:

    • This case underscores the potential for severe, systemic complications in infants with untreated lactose intolerance.
    • The presence of bilateral cataracts and neurological deficits suggests a broader metabolic or genetic component.
    • Further research is needed to understand the link between lactose intolerance and these severe comorbidities.