Abstract
Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life, between two and five. Seizures are one of the most common symptoms in these patients (55%), usually presented as generalized tonic–clonic, and improving within 24 h of biotin treatment. Treatment delay has been associated with irreversible neurological damage, mental retardation, ataxia, paraparesis, deafness, and epilepsy exceptionally.
We report the case of a girl who was admitted at 2.5 months because of vomiting, failure to thrive, flexor spasms, dermatitis, and neurological depression for 1 month. BD was identified and was treated with biotin, stopping seizures and improving symptoms. Developmental delay, paraparesis, optic atrophy, and seizures during febrile illness were observed at follow-up. At the age of 8, she suffered hemigeneralized seizures despite appropriate biotin treatment, so levetiracetam was administered, and epilepsy was controlled. Organic acid measurement was performed to determine whether the child was receiving enough or no biotin.
Even though BD is a rare condition, because the biotinidase screening is a reliable procedure and the disorder is readily treatable, the implementation of extended biotinidase screening will effectively help to prevent any acute and long-term neurological problems as well as the significant morbidity associated with untreated disease. In addition, neonatal screening and early treatment with biotin prevents severe neurological sequelae, such as epilepsy, which has not been thoroughly described in the literature.
Competing interests: None declared.
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References
Baumgartner ER, Suormala T (1997) Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. Int J Vitam Nutr Res 67(5):377–384
Bunch M, Singh A (2011) Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. Seizure 20(1):83–86
Couce Pico ML, Martinón-Torres F, Castiñeiras DE et al (1999) Biotinidase deficiency: importance of its neonatal diagnosis and early treatment. An Esp Pediatr 50:504–506
Desai S, Ganesan K, Hegde A (2008) Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol 38(8):848–856
Lafuente-Hidalgo M, Ranz Angulo R, López Pisón J et al (2010) Epileptic encephalopathy due to partial biotinidase deficiency. An Pediatr (Barc) 72(3):227–228
Mc Sweeney N, Grunewald S, Bhate S et al (2010) Two unusual clinical and radiological presentations of biotinidase deficiency. Eur J Paediatr Neurol 14(6):535–538
Pindolia K, Jordan M, Wolf B (2010) Analysis of mutations causing biotinidase deficiency. Hum Mutat 31(9):983–991
Pomponio RJ, Hymes J, Reynolds TR et al (1997) Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res 42(6):840–848
Salbert BA, Pellock JM, Wolf B (1993) Characterization of seizures associated with biotinidase deficiency. Neurology 43(7):1351–1355
Schulpis KH, Karikas GA, Tjamouranis J et al (2001) Low serum biotinidase activity in children with valproic acid monotherapy. Epilepsia 42(10):1359–1362
Schürmann M, Engelbrecht V, Lohmeier K et al (1997) Cerebral metabolic changes in biotinidase deficiency. J Inherit Metab Dis 20(6):755–760
Singhi P, Ray M (2011) Ohtahara syndrome with biotinidase deficiency. J Child Neurol 26(4):507–509
Wolf B (1991) Worldwide survey of neonatal screening of biotinidase deficiency. J Inherit Metab Dis 14:923–937
Wolf B (2010) Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab 100(1):6–13
Wolf B, Grier RE, Allen RJ et al (1983) Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 131(3):273–281
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To Mr. Jose Jimenez and Dr. Paloma Alonso for their big effort with translation.
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Communicated by: Verena Peters.
Take-Home Message
Take-Home Message
Epilepsy is a possible neurological sequelae in biotinidase deficiency, due to delay in the diagnosis and initiation of treatment.
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© 2011 SSIEM and Springer-Verlag Berlin Heidelberg
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Micó, S.I., Jiménez, R.D., Salcedo, E.M., Martínez, H.A., Mira, A.P., Fernández, C.C. (2011). Epilepsy in Biotinidase Deficiency After Biotin Treatment. In: JIMD Reports - Case and Research Reports, 2012/1. JIMD Reports, vol 4. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_74
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DOI: https://doi.org/10.1007/8904_2011_74
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