Abstract
Background
Biotinidase deficiency is a metabolic disorder characterized by inability to recycle biotin with resultant delayed myelination. Clinical findings include seizures, ataxia, alopecia and dermatitis with atypical findings of myoclonic jerks, neuropathy and spastic paraparesis. Neuroradiological findings include cerebral atrophy, encephalopathy and widened extracerebral CSF spaces. Many of the clinical and neuroradiological features are reversible except sensorineural hearing loss and optic atrophy.
Objective
To understand and describe the neuroimaging and spectroscopic findings of biotinidase deficiency.
Materials and methods
We evaluated the spectrum of neuroimaging and spectroscopic findings in four patients with biotinidase deficiency with follow-up studies in three patients.
Results
The imaging findings were encephalopathy, low cerebral volume, ventriculomegaly and widened extracerebral CSF spaces. Uncommon findings were caudate involvement, parieto-occipital cortical abnormalities and one patient with restricted diffusion. Two patients had subdural effusions, which is uncommon in biotinidase deficiency. 1H-MR spectroscopy revealed elevated lactate, reversal of the choline/creatine ratio and decreased NAA peaks. Follow-up studies revealed complete reversal of imaging findings in two patients.
Conclusion
Biotinidase deficiency is a reversible metabolic encephalopathy. This study highlights the importance of early and prompt cliniconeuroradiological diagnosis of biotinidase deficiency as it has an extremely good clinical outcome if treatment is initiated from early infancy.
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References
Wolf B (1991) Worldwide survey of neonatal screening of biotinidase deficiency. J Inherit Metab Dis 14:923–937
Wolf B (2001) Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Valle D et al (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3935–3962
Mardach R, Zempleni J, Wolf B et al (2002) Biotin deficiency due to a defect in biotin transport. J Clin Invest 109:1617–1623
Wolf B, Spencer R, Gleason T (2002) Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr 140:242–246
Dionisi-Vici C, Bachmann C, Graziani MC et al (1988) Laryngeal stridor as a leading symptom in a biotinidase-deficient patient. J Inherit Metab Dis 11:312–313
Ataman M, Sozeri B, Ozalp I (1992) Biotinidase deficiency: a rare cause of laryngeal stridor. Int J Pediatr Otorhinolaryngol 23:281–284
Baumgartner ER, Suormala TM, Wick H et al (1989) Biotinidase deficiency: a cause of subacute necrotising encephalomyelopathy (Leigh syndrome): report of a case with lethal outcome. Pediatr Res 26:260–266
Tokatli A, Coskun T, Ozalp I et al (1992) The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor. J Inherit Metab Dis 15:281–282
Grunewald S, Champion MP, Leonard JV et al (2004) Biotinidase deficiency: a treatable leukoencephalopathy. Neuropediatrics 35:211–216
Heller AJ, Stanley C, Shaia WT et al (2002) Localization of biotinidase in brain: implications for its role in hearing loss in biotinidase deficiency. Hear Res 173:62–68
Wiznitzer M, Bangert B (2003) Biotinidase deficiency: Clinical and MRI findings consistent with myelopathy. Pediatr Neurol 29:56–58
Honvar M, Janota I, Neville BG et al (1992) Neuropathology of biotinidase deficiency. Acta Neuropathol 84:461–464
Sander JE, Malamud N, Cowan MJ et al (1980) Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. Ann Neurol 8:544–547
Wolf B, Pomponio RJ, Norrgard KJ et al (1998) Delayed-onset profound biotinidase deficiency. J Pediatr 132:362–365
Schulz PE, Weiner SP, Belmont JW et al (1988) Basal ganglia calcifications in a case of biotinidase deficiency. Neurology 38:1326–1328
Schurmann M, Engelbrecht V, Lohmeier K et al (1997) Cerebral metabolic changes in biotinidase deficiency. J Inherit Metab Dis 20:755–760
Hoffman TL, Simon EM, Ficicioglu C (2005) Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. Eur J Pediatr 164:298–301
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Desai, S., Ganesan, K. & Hegde, A. Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol 38, 848–856 (2008). https://doi.org/10.1007/s00247-008-0904-z
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DOI: https://doi.org/10.1007/s00247-008-0904-z