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Analysis of Fucosylated Human Milk Trisaccharides in Biotechnological Context Using Genetically Encoded Biosensors
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Siblings with fucosidosis

Karthik Muthusamy1, Maya Mary Thomas1, Renu Elizabeth George2

  • 1Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.

Journal of Pediatric Neurosciences
|September 25, 2014
PubMed

Insights

Fucosidosis, a rare lysosomal storage disorder, presents unique clinical and imaging features. Early diagnosis and sibling screening are crucial for timely intervention, including potentially curative stem cell transplantation.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Fucosidosis is a rare genetic lysosomal storage disorder caused by alpha-L-fucosidase deficiency.
  • Approximately 100 cases globally highlight its rarity and the need for broader case reporting.

Observation:

  • Two siblings with fucosidosis exhibited distinct clinical presentations, including global developmental delay, neuroregression, and specific physical and neurological signs.
  • Characteristic magnetic resonance imaging findings and undetectable fucosidase enzyme activity confirmed the diagnosis in both cases.

Findings:

  • The elder sibling presented with severe global developmental delay and neurological regression, while the younger sibling showed milder developmental delay and autistic traits.
  • Both siblings had undetectable fucosidase enzyme activity, confirming the genetic defect.

Implications:

  • This case report expands the understanding of fucosidosis' clinical spectrum and diagnostic features.
  • Early diagnosis through sibling screening and prompt hematopoietic stem cell transplantation offers a potentially curative therapeutic option for affected individuals.

Keywords:
Dysostosis multiplexfucosidosishypomyelinationneuroregressionstem cell transplantation

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