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D-bifunctional protein deficiency associated with drug resistant infantile spasms

Sabrina Buoni1, Raffaella Zannolli, Hans Waterham

  • 1Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy.

Brain & Development
|August 22, 2006
PubMed

Insights

Peroxisomal D-bifunctional protein deficiency, caused by HSD17B4 gene mutations, leads to severe neurological issues like West syndrome. This case highlights a unique epileptic presentation and drug resistance in a patient with this rare disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Peroxisomal disorders affect approximately 1 in 5000 newborns.
  • Peroxisomal D-bifunctional protein (D-BP), encoded by HSD17B4, is crucial for fatty acid beta-oxidation and bile acid synthesis.
  • D-BP deficiency results in a severe Zellweger-like phenotype, often fatal within the first year.

Observation:

  • This report details a case of D-BP deficiency in a patient with two heterozygous trinucleotide deletions in the HSD17B4 gene.
  • The patient exhibited a distinctive epileptic phenotype, characterized as West syndrome with a modified hypsarrhythmic pattern and drug-resistant asymmetric spasms.
  • Vigabatrin showed the most efficacy among tested antiepileptic drugs.

Findings:

  • The patient presented with a rare genetic disorder, D-BP deficiency, due to specific HSD17B4 gene mutations.
  • A peculiar epileptic syndrome, West syndrome with a modified hypsarrhythmic pattern, was observed.
  • The patient experienced drug-resistant spasms, with Vigabatrin providing partial relief.

Implications:

  • This case expands the understanding of the clinical spectrum of D-BP deficiency.
  • It underscores the importance of genetic testing for peroxisomal disorders in infants with severe epilepsy.
  • Further research is needed to explore genotype-phenotype correlations and optimize treatment strategies for D-BP deficiency.

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