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[Loss of motoric function in a three-year-old boy with lysosomal storage disease]

Thea Schouenborg Schultz1, Mette Møller Handrup

  • 1THSCHU@rm.dk.

Ugeskrift for Laeger
|December 4, 2019
PubMed

Insights

A child with delayed development and erythema migrans was diagnosed with neuronal ceroid lipofuscinosis type 2. Early intraventricular enzyme therapy in Denmark slowed functional decline.

Area of Science:

  • Pediatric Neurology
  • Rare Genetic Diseases
  • Infectious Diseases

Background:

  • Delayed language development and erythema migrans in a pediatric patient.
  • Initial misdiagnosis of neuroborreliosis and subsequent treatment challenges.

Observation:

  • The patient presented with progressive motor dysfunction, including ataxia, following antibiotic treatment for suspected neuroborreliosis.
  • Diagnostic workup revealed neuronal ceroid lipofuscinosis type 2, a rare lysosomal storage disease.

Findings:

  • The patient received intraventricular enzyme substitution therapy, marking a first in Denmark.
  • This novel treatment demonstrated a capacity to mitigate the advancement of functional deterioration.

Implications:

  • Highlights the importance of considering rare genetic disorders in pediatric cases with complex neurological symptoms.
  • Suggests potential efficacy of intraventricular enzyme therapy for neuronal ceroid lipofuscinosis type 2.
  • Emphasizes the need for early diagnosis and intervention in lysosomal storage diseases.

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