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Infant case of lysosomal acid lipase deficiency: Wolman's disease

Meghmala Sadhukhan1, Amit Saha2, Roshni Vara3

  • 1Maidstone & Tunbridge Wells NHS Trust, Pembury, UK.

BMJ Case Reports
|May 17, 2014
PubMed

Insights

Lysosomal acid lipase (LAL) deficiency, a rare genetic disorder, can cause severe infant illness. Early diagnosis in infants with failure to thrive and gastrointestinal issues is crucial for timely LAL replacement therapy.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Lysosomal acid lipase (LAL) deficiency is an inherited metabolic disorder.
  • It results from mutations in the LIPA gene, affecting lipid metabolism.
  • LAL deficiency leads to intracellular accumulation of cholesteryl esters and triglycerides.

Observation:

  • A case of an infant with Wolman's disease, a severe form of LAL deficiency, is presented.
  • The infant exhibited symptoms including vomiting, diarrhea, hepatosplenomegaly, and poor weight gain.
  • Adrenal calcification, a characteristic feature, was noted.

Findings:

  • The infant was diagnosed with early-onset LAL deficiency (Wolman's disease).
  • The patient was enrolled in a clinical trial for LAL replacement therapy.
  • This case highlights the importance of considering LAL deficiency in infants with specific clinical signs.

Implications:

  • Early identification of LAL deficiency is critical for initiating timely treatment.
  • LAL replacement therapy offers a potential therapeutic option for affected infants.
  • This case underscores the need for increased awareness among clinicians regarding rare metabolic disorders.

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