INFANTILE ALEXANDER'S DISEASE: A CASE WITH CHARACTERISTIC MRI FEATURES
Abstract
Alexander disease, less commonly known as fibrinoid leukodystrophy is an extremely rare, non-familial, progressive, lethal leukodystrophy which is characterized predominantly by abnormalities of white matter in bilateral frontal regions. It usually presents early within first 2 years of life with clinical features of macrocephaly, recurrent seizures and psychomotor retardation. Diagnosis of this white matter disorder is possible with certain features seen on magnetic resonance imaging (MRI), even without the need for histological confirmation. Our case is a one year old male infant who presented with repeated episodes of focal seizures to the paediatrician. He was referred for an MRI and subsequently based on typical MRI findings the diagnosis of Alexander disease was made.
References
Kumar KJ, Suryaprakash H, Manjunath VG, Harsha S. Infantile Alexander disease: A rare leukodystrophy. J Pediatr Neurosci 2012;7(2):117-9.
Messing A, LaPash Daniels CM, Hagemann TL. Strategies for Treatment in Alexander Disease. Neurotherapeutics 2010;7(4):507-15.
Messing A, Brenner M, Feany MB, Nedergaard M, Goldman JE. Alexander Disease. J Neurosci 2012;32(15):5017-23.
Reichard EA, Ball WS Jr, Bove KE. Alexander disease: a case report and review of the literature. Pediatr Pathol Lab Med 1996;16(2):327-43.
Singh N, Bixby C, Etienne D, Tubbs RS, Loukas M. Alexander's disease: reassessment of a neonatal form. Childs Nerv Syst 2012;28(12):2029-31.
Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I. Adult-onset Alexander disease with typical tadpole brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. BMC Neurol 2010;10:21.
Van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander Disease: Diagnosis with MR Imaging. AJNR Am J Neuroradiol 2001;22(3):541-52.
Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, et al. Can MR Imaging Diagnose Adult-onset Alexander Disease? AJNR Am J Neuroradiol 2008;29(6):1190-6.
Muralidharan C, Tomar R, Aggarwal R. MRI diagnosis of Alexander disease. South Afr J Radiol 2012;16(3):116-7.
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