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Fucosidosis with hypothyroidism: a case report.
Neslihan Onenli-Mungan1, Güler Ozer, Sakir Altunbaşak
1Department of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey.
The Turkish Journal of Pediatrics
|June 25, 2004
Summary
Fucosidosis, a rare lysosomal disorder, was diagnosed in a young boy with developmental delay and seizures. This case highlights the importance of early diagnosis for this alpha-L-fucosidase deficiency.
Area of Science:
- Genetics and rare diseases
- Biochemistry and metabolic disorders
- Pediatric neurology
Background:
- Fucosidosis is an autosomal recessive lysosomal storage disorder.
- It results from a severe deficiency of the alpha-L-fucosidase enzyme.
- This deficiency leads to the accumulation of fucose-containing glycolipids.
Observation:
- A 27-month-old male presented with developmental delay, recurrent pulmonary infections, and myoclonic seizures.
- Clinical examination revealed coarse facial features, hepatomegaly, and generalized spasticity.
- Radiographic findings were consistent with a mild form of dysostosis multiplex.
Findings:
- Alpha-L-fucosidase enzyme activity was found to be zero, confirming fucosidosis.
- The patient also exhibited primary hypothyroidism.
- This represents the fourth documented case of fucosidosis in Turkey.
Implications:
- Early diagnosis of fucosidosis is crucial for potential management strategies.
- This case underscores the genetic and clinical variability of lysosomal storage disorders.
- Further research into fucosidosis and associated conditions like hypothyroidism is warranted.