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West Syndrome Secondary to Biotinidase Deficiency about a Case
Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
Unit of Neuroscience and Applied Nutrition, Laboratory of Nutrition, Health and Environment, Department of Biology, Faculty of Science, Kenitra, Morocco
Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
- 1 Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
- 2 Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
- 3 Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
- 4 Unit of Neuroscience and Applied Nutrition, Laboratory of Nutrition, Health and Environment, Department of Biology, Faculty of Science, Kenitra, Morocco
- 5 Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
- 6 Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
Neuroscience and Medicine·Volume 08 (2017)·Pages 29–32·Published 24 August 2017·DOI10.4236/nm.2017.83004
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Abstract
Biotinidase deficiency is an abnormality of biotin metabolism which is manifested by neurological, cutaneous, ophthalmological and auditory signs. It has been described as a cause of West syndrome, but there are few observations that report an association between these latter two. We report the observation of an 18-month old infant born from a first-degree consanguineous marriage, followed since the age of 2 months and half for West syndrome associated with alopecia, also an eczema and deafness in whom the etiological investigation was in favor of a biotinidase deficiency. Thus treatment with biotin resulted in a marked clinical improvement.
KeywordsWest Syndrome SecondaryOne CaseBiotinidase Defiency
- Wolf, B. (2012) Biotinidase Deficiency: If You Have to Have an Inherited Metabolic Disease, This Is the One to Have. Genetics in Medicine, 14, 565-575. https://doi.org/10.1038/gim.2011.6
- Wolf, B. (1991) Worldwide Survey of Neonatal Screening of Biotinidase Deficiency. Journal of Inherited Metabolic Disease, 14, 923-937. https://doi.org/10.1007/BF01800475
- Komur, M., Okuyaz, C., et al. (2011) A Girl with Spastic Tetraparesis Associated with Biotinidase Deficiency. European Journal of Pediatric Neurology, 15, 551-553. https://doi.org/10.1016/j.ejpn.2011.04.012
- Wolf, B. (1985) Biotinidase Deficiency: Initial Clinical Features and Rapid Diagnosis. Annals of Neurology, 18, 614-617. https://doi.org/10.1002/ana.410180517
- Salbert, B.A., Pellock, J.M. and Wolf, B. (1993) Characterization of Seizures Associated with Biotinidase Deficiency. Neurology, 43, 1351-1355. https://doi.org/10.1212/WNL.43.7.1351
- Venkataraman, V., Balaji, P., et al. (2013) Biotinidase Deficiency in Childhood. Neurology India, 61, 411-413. https://doi.org/10.4103/0028-3886.117614
- Wolf, B. (2010) Clinical Issues and Frequent Questions about Biotinidase Deficiency. Molecular Genetics and Metabolism, 100, 6-13. https://doi.org/10.1016/j.ymgme.2010.01.003