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A boy with spastic paraparesis and dyspnea
H Serap Kalkanoğlu1, Ali Dursun, Ayşegül Tokatli
1Department of Pediatrics, Section of Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey. skalkano@hacettepe.edu.tr
Journal of Child Neurology
|July 1, 2004
Summary
Biotinidase deficiency, a rare metabolic disorder, can cause spastic paraparesis and dyspnea in children. Early diagnosis and biotin treatment are crucial for recovery and preventing long-term neurological damage.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Metabolic Disorders
Background:
- Biotinidase deficiency is an inherited metabolic disorder affecting biotin metabolism.
- It can lead to severe neurological and developmental problems if untreated.
Observation:
- A pediatric case presenting with spastic paraparesis and dyspnea is described.
- Initial symptoms suggested other neurological conditions.
Findings:
- Urine organic acid analysis and biotinidase activity assays confirmed biotinidase deficiency.
- The patient showed significant clinical improvement following biotin supplementation therapy.
Implications:
- Biotinidase deficiency should be considered in the differential diagnosis of pediatric spastic paraparesis, even without other overt systemic signs.
- Prompt diagnosis and treatment with biotin can lead to favorable outcomes, preventing irreversible neurological damage.