A Case of Primary Brain Calcification Presenting with Gait Disturbance in an Adolescent
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Primary brain calcification (PBC) is a neurodegenerative disorder characterized by idiopathic calcification of the basal ganglia that is rare in children and adolescents. This report describes a 16-year-old boy who complained of progressive walking difficulty and gait disturbance for 3 years. Physical examination showed positive reaction to ankle clonus and increased deep tendon reflex on both legs. There was no family history of metabolic disorder or neurologic diseases. Brain computed tomography (CT) and brain magnetic resonance imaging (MRI) revealed extensive calcifications in the bilateral cerebral white matter, basal ganglia, thalamus and dentate nucleus of the cerebellum. Laboratory and genetic studies showed nothing of note. This case report describes an unusual case of sporadic primary brain calcification, diagnosed in adolescence by the presence of gait difficulty and mild mental retardation and its review.
Abstract
Primary brain calcification (PBC) is a neurodegenerative disorder characterized by idiopathic calcification of the basal ganglia that is rare in children and adolescents. This report describes a 16-year-old boy who complained of progressive walking difficulty and gait disturbance for 3 years. Physical examination showed positive reaction to ankle clonus and increased deep tendon reflex on both legs. There was no family history of metabolic disorder or neurologic diseases. Brain computed tomography (CT) and brain magnetic resonance imaging (MRI) revealed extensive calcifications in the bilateral cerebral white matter, basal ganglia, thalamus and dentate nucleus of the cerebellum. Laboratory and genetic studies showed nothing of note. This case report describes an unusual case of sporadic primary brain calcification, diagnosed in adolescence by the presence of gait difficulty and mild mental retardation and its review.
참고문헌 (14)
- Manyam BV, "What is and what is not 'Fahr's disease'", Parkinsonism Relat Disord, 11, pp.73~80 (2005)
- Baba Y, "Heredofamilial brain calcinosis syndrome", Mayo Clinic Proc, 80, pp.641~651 (2005)
- Oliveira JR, "Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)", Neurology, 63, pp.2165~2167 (2004)
- Geschwind DH, "Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)", Am J Hum Genet, 65, pp.764~772 (1999)
- Manyam BV, "Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry", Mov Disord, 16, pp.258~264 (2001)
- Wang C, "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis", Nat Genet, 44, pp.254~256 (2012)
- Nicolas G, "Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification", Neurology, 80, pp.181~187 (2013)
- Volpato CB, "2q37 as a susceptibility locus for idiopathic basal ganglia calcification(IBGC) in a large South Tyrolean family", J Mol Neurosci, 39, pp.346~353 (2009)
- Dai X, "Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification", Am J Med Genet B Neuropsychiatr Genet, 153B, pp.1305~1310 (2010)
- Nicolas G, "Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification", Brain, 136, pp.3395~3407 (2013)
- Manyam BV, "Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging and electrophysiological studies", Ann Neurol, 31, pp.379~384 (1992)
- Goyal D, "Would you recognize Fahr’s Disease if you saw it?", Innov Clin Neurosci, 11, pp.26~28 (2014)
- Ishitobi M, "Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification", Brain Dev, 36, pp.823~825 (2014)
- Avrahami E, "MRI demonstration and CT correlation of the brain in patients with idiopathic intracerebral calcification", J Neurol, 241, pp.381~384 (1994)
