| Título: | Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series) |
| Autores: |
KARIMZADEH, Parvaneh; 1. Pediatric Neurology Research Center, Shahid Beheshti University
of Medical Sciences, Tehran, Iran
2. Pediatric Neurology Department, Mofid Children’s Hospital, Shahid
Beheshti University of Medical Sciences, Tehran, Iran AHMADABADI, Farzad; 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran JAFARI, Narjes; 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran JABBEHDARI, Sayena; Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ALAEE, Mohammad Reza; 3. Department of Pediatric Endocrinology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran GHOFRANI, Mohammad; 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2. Pediatric Neurology Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran TAGHDIRI, Mohammad-Mahdi; 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2. Pediatric Neurology Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran TONEKABONI, Seyed Hassan; 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2. Pediatric Neurology Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran |
| Fecha: | 2013-08-20 |
| Publicador: | Iranian Journal of Child Neurology |
| Fuente: |
 |
| Tipo: |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| Tema: | Biotinidase deficiency; Neurometabolic disorder; Developmental delay; Early diagnosis |
| Descripción: | How to Cite This Article: Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M, Taghdiri MM, Tonekaboni SH. Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series). Iran J Child Neurol. 2013 Autumn; 7(4):47- 52. ObjectiveBiotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. If this disorder is diagnosed in newborn period, could be prevented well from mental and physical developmentaldelay and most of clinical manifestations.Materials & MethodsThe patients were diagnosed as biotinidase deficiency in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2009 and 2012 were included in this study. This study was conducted to define the age, gender, past medical history, developmental status, general appearance, clinical manifestations, neuroimaging findings, and response to treatment in 16 patients with biotinidase deficiency in this department.ResultsIn clinical presentation, cutaneous lesions were not found in 37% of the patients and 43% patients had not alopecia. 75% patients had abnormal neuroimaging that in 56% of them, generalized brain atrophy and myelination delay were found. Results of the present study showed the efficacy of biotin in early diagnosed patients with seizure and dermatological manifestations. The seizure and skin manifestations were improved after biotin therapy.ConclusionAccording to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs. ReferencesWolf B.Disorders of biotin metabolism. In: Scriver CR,Beaudet AL, Sly W, et al.,eds. The Metabolic and MolecularBases of Inherited Disease, 8thed. New York,NY:McGraw-Hill;2001: 3935-3962.Rathi N, RathiM.Biotinidase deficiency with hypertonia as unusual feature.IndianPediatr. 2009;46(1):65-67.Wolf B.Worldwide survey of neonatal screening for biotinidasedeficiency.J Inherit Metab Dis. 1991;14(6):923-7.Dahiphale R, Jain S, AgrawalM.Biotinidasedeficiency. IndianPediatr. 2008;45(9):777-779.Heard GS,SecorMcVoy JR,Wolf B.A screening method for biotinidase deficiency in newborns.Clin Chem. 1984;30(1):125–7.Desai S, Ganesan K, HegdeA.Biotinidase deficiency: a reversible metabolic encephalopathy. neuroimaging and MR spectroscopic findings in a series of four patients. PediatrRadiol. 2008;38(8):848-856. Epub 2008 Jun 11.Wolf B.The neurology of biotinidasedeficiency.Mol Genet Metab. 2011;104(1-2):27-34. Epub 2011 Jun 12.Wastell HJ, Bartlett K, Dale G, et al. Biotidinase deficiency: a survey of 10 cases. Arch Dis Child. 1998;63(10):1244-1249.Wolf B, Pomponio RJ, Norrgard KJ, et al. Delayedonset profound biotinidase deficiency. J Pediatr.1998; 132(2):362–365.Grunewald S, Champion MP, Leonard JV, et al. Biotinidase deficiency: a treatable leukoencephalopathy. Neuropediatrics. 2004; 35(4):211–216.Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr.2002; 140(2):242–246. |
| Idioma: | Inglés |
1 EFFECTS OF ORAL IRON SUPPLEMENT ON BREATH-HOLDING SPELLS IN CHILDREN por TONEKABONI MD, S.H.; Pediatric Neurologist, Assistant Professor of Shaheed Beheshti University of Medical Sciences Child neurology department, Mofid Children’s Hospital,ALAVI MD, S.; Assisstant professor ,Shaheed Beheshti Medical Sciences University, Mofid Children’s Hospital,MAHVELATI MD, F.; Pediatric Neurologist, Assistant Professor of Shaheed Beheshti University of Medical Sciences Child neurology department, Mofid Children’s Hospital,TABASI MD, Z.; Pediatrician | 6 A STUDY ON THE RISK FACTORS FOR OBSTETRICAL BRACHIAL PLEXUS PALSY por ASHRAFZADEH, Farah; Professor of Pediatric Neurology Mashhad University of Medical Sciences, Mashhad, Iran,BOSKABADI, Hasan; Associate Professor of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran,FARAJI RAD, Mohammad; Professor of Neurosurgery Mashhad University of Medical Sciences, Mashhad, Iran,SEYYED HOSSEINEE, Parisa; Medical student, Mashhad University of Medical Sciences, Mashhad, Iran |
2 Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia por BARZEGAR, Mohammad; Professor of pediatric Neurology,
Pediatric Health Research Center,
Tabriz University of Medical Sciences,
Tabriz, Iran,SAYADNASIRI, Mohammad; Assistant professor of Neurology, Department of Neurology, Qazvin University of Medical Sciences, Qazvin, Iran,TABRIZI, Aidin; Pediarician, Pediatric Health
Research Center, Tabriz University of
Medical Sciences,Tabriz, Iran | 7 Role and Function of Mitochondria por ZAMANI, Gholamreza; Pediatric Neurology Department,
Children’s Medical Center, Tehran
University of Medical Sciences,
Tehran, Iran |
3 Lysosomal Storage Disease in Iran (Report of Molecular Study) por HOUSHMAND, Massoud; 1. Assistant Professor of Human Molecular Genetics, Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran,TONEKABONI, Seyed Hassan; 2.Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical sciences,Tehran, Iran,KARIMZADEH, Parvaneh; Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical sciences,Tehran, Iran,ARYANi, Omid; Genetic Counselor, Medical Genetic Dep. Special Medical Center, Tehran, Iran,ASHRAFI, Mahmoudreza; Professor of Pediatric Neurology, Growth and Development
Research Center, Children´s Medical Center, Tehran University of Medical Science, Tehran, Iran,SALEHPOUR, Shadab; Associate Professor of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran,BADV, Shervin; Assistant Professor of Pediatric Neurology, Zanjan University of Medical Sciences, Zanjan, Iran,SHAKIBA, Marjan; Associate Professor of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran,ALAEE, Mohammad Reza; Associate Professor of Endocrinology, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran,FARSHIDI, Shahla; Nasle Omid Hope Foundation | 8 GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE por Shamsian MD, B.Sh.; Assistant professor, Department of pediatric hematology-oncology,Mofid children's hospital,Shaid BEheshti Medical University,Arzanian MD, M.T.; Assistant professor ,Cheif of hematology-oncology ward, Department of pediatric hematology-oncology, Shaid Beheshti Medical University,Alavi MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences,Zareifar MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences |
4 Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report por SHERVIN BADV, Reza; 1. Pediatric Neurologist,
Department of Pediatrics, Zanjan
University of Medical Sciences,
Zanjan, Iran,NIKSIRAT, Ali; 2. Legal Medicine Research
Center, Legal Medicine
Organization, Tehran, Iran | 9 ETHYLMALONIC ACIDURIA AND REPORT OF ONE CASE FROM IRAN por KARIMZADEH, Parvaneh; Associate Professor of Pediatric Neurology, Pediatric Neurology Research Center, ShahidBeheshti University of Medical Sciences, Mofid Children Hospital, Tehran, Iran |
5 NEONATAL SEIZURE: ETIOLOGY AND TYPE por Moayedi, A.R.; Pediatric Neurologist,Assistant Professor, Hormozgan University of Medical Sciences,Bandar Abbas,Zakeri, S.; Pediatrician, Hormozgan University of Medical Sciences,Moayedi, F.; General Physician | 10 EFFECT OF SENSORY INTEGRATION THERAPY ON GROSS MOTOR FUNCTION IN CHILDREN WITH CEREBRAL PALSY por Shamsoddini, A.R.; Master of Occupational therapy, Baqiyatallah university of Medical Sciences, Medical Faculty.,Hollisaz, M.T.; Professor of Physical Medicine and Rehabilitation, Baqiyatallah university of Medical Sciences, Medical Faculty. |