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      Management of anesthesia in biotinidase deficiency

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          Abstract

          Sir, We present the anesthetic management in a 2-year-old boy with biotinidase deficiency (BD). BD is an autosomal recessive inherited metabolic disorder, which was first described in 1985 by Wolf et al.[1] The incidence of BD is approximately 1:60.000 newborns in the world.[1] Clinical manifestations of BD include neurological (seizures, ataxia, hypotonia, developmental delay, hearing and vision loss), neuromuscular (muscle weakness, spinal cord diseases), dermatological (seborrheic dermatitis, alopecia, skin rash), and metabolic abnormalities (chronic lactic acidosis, organic aciduria). It is also associated with respiratory problems (apnea, dyspnea, tachypnea) and immune deficiency findings.[1 2 3 4] Treatment with biotin results in a rapid clinical and biochemical improvement. However, if untreated, the disease can lead to coma and death. A 2-year-old boy weighing 12 kg was scheduled for a probing procedure due to lacrimal duct obstruction. BD was diagnosed and treated with biotin when the patient was 4-month-old. Patient has no episode of seizure over the last year and has used biotin 20 mg/day without antiepileptic drug. Physical examination was normal except the crusted lesions on skin and scalp of recent chicken pox infections. Laboratory findings were normal except anemia due to iron deficiency (hemoglobin: 10.2 g/dL, serum iron: 26.8 μg/dL, ferritin: 10.9 ng/mL, serum iron binding capacity: 406 μg/dL). Intravenous (IV) access had been established before instituting anesthesia in the preoperative holding area. Patient was pre-medicated with IV midazolam 0.05 mg/kg. Monitoring in the form of electrocardiography, non-invasive blood pressure and pulse oximetery were instituted. Patient's heart rate was 150/min, blood pressure was 125/75 mmHg and SpO2 was 99% before induction of anesthesia. Induction was facilitated with propofol 2 mg/kg and fentanyl 1 μg/kg IV and then, size two classic laryngeal mask airway (LMA) was inserted. Pediatric semi-closed circle breathing system was used. While preserving the patient's spontaneous ventilation, anesthesia was maintained with 1 MAC (minimum alveolar concentration) of sevoflurane in 60/40 NO2-O2. End-tidal carbon dioxide was maintained between 30 and 40 mmHg. Hemodynamic stability was maintained during the surgery. At the end of the surgery, which lasted 25 min, the patient was awake from anesthesia uneventfully. After then, the patient was taken to the post-operative care unit. While the patient had normal vital signs, we transported him to the ward. In our patient who had not diagnosed any neuromuscular pathology, we used a safe approach of low dose propofol and fentanyl and inserted LMA without neuromuscular blocking agents because hypotonia is a common pathology in these children with BD. Thus, anesthetic management should be planned carefully to avoid hypoxia, acidosis and hemodynamic instability in all such cases.

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          Incidence of biotinidase deficiency in Turkish newborns.

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            A girl with spastic tetraparesis associated with biotinidase deficiency.

            Biotinidase deficiency is a disorder of biotin metabolism that manifests with cutaneous, ophthalmological and neurologyical symptoms in childhood. Spinal cord involvement has rarely been reported and all of the reported cases are spastic paraparesis. A 3 year-old girl with biotinidase deficiency was admitted to our clinic with hyperventilation, hair loss and spastic tetraparesis. To our knowledge, our case is the first reported tetraparesis associated with biotinidase deficiency. She was treated with oral biotin and benefited significantly from this therapy. Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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              A boy with spastic paraparesis and dyspnea.

              A 4 1/2-year-old boy with signs and symptoms of spastic paraparesis and dyspnea is presented. Biotinidase deficiency was considered and was confirmed by both urine organic acid analysis and biotinidase activity measurement. The child recovered gradually on biotin therapy. Because other systemic signs and symptoms of the disease might not be present initially or might develop later, biotinidase deficiency should be considered in the differential diagnosis of a child presenting with acute or subacute spastic paraparesis.
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                Author and article information

                Journal
                J Anaesthesiol Clin Pharmacol
                J Anaesthesiol Clin Pharmacol
                JOACP
                Journal of Anaesthesiology, Clinical Pharmacology
                Medknow Publications & Media Pvt Ltd (India )
                0970-9185
                2231-2730
                Jan-Mar 2014
                : 30
                : 1
                : 126
                Affiliations
                [1]Department of Anesthesiology and Reanimation, Yuzuncu Yil University, Faculty of Medicine, Van, Turkey
                [1 ]Sakarya University Training and Research Hospital, Sakarya, Turkey
                Author notes
                Address for correspondence: Dr. Onur Palabiyik, Department of Anesthesiology and Reanimation, Sakarya University Training and Research Hospital, Sakarya, Turkey. E-mail: mdpalabiyikonur@ 123456yahoo.com
                Article
                JOACP-30-126
                10.4103/0970-9185.125738
                3927284
                24574621
                eb893fd7-c833-43c2-b40a-b13d9f293df6
                Copyright: © Journal of Anaesthesiology Clinical Pharmacology

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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                Anesthesiology & Pain management

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