title: Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation.
abstract: Classic late-infantile neuronal ceroid lipofuscinosis is characterized by progressive intellectual and motor deterioration, seizures, vision loss, and early death. Prominent chorea is an atypical feature and is rarely described in children.
  
  
  
  A four-year-old girl with seizures followed by a year-long progressive cognitive decline and a three month history of intermittent chorea leading to rapid motor deterioration. The onset of illness was marked by seizures occurring as generalized tonic-clonic seizures and myoclonic jerks. There was gradual regression of cognitive milestones with increasing forgetfulness and impaired quality and content of speech. Nine months later, she developed chorea. These movements were associated with clumsiness, incoordination, and progressive loss of motor milestones. She was unable to perform manual tasks or maintain antigravity posture resulting in unsteadiness and frequent falls. The movements were aggravated by action or excitement and were absent in sleep.
  
  
  
  Magnetic resonance imaging depicted diffuse cerebral and cerebellar atrophy. Sequencing analysis of TPP1 gene showed a novel, homozygous, splice site mutation c.89+1G>A which resulted in nil enzyme activity and a severe phenotype with onset of disease symptoms at an early age of three years.
  
  
  
  The presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, seizures and diffuse brain atrophy.
authors.affiliation: Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, UT, India.
authors.forename: Arushi Gahlot
authors.initials: AG
authors.lastname: Saini
authors.affiliation: Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, UT, India.
authors.forename: Naveen
authors.initials: N
authors.lastname: Sankhyan
authors.affiliation: Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, UT, India. Electronic address: doctorpratibhasinghi@gmail.com.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Singhi
mesh_terms: D000626:Aminopeptidases / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002819:Chorea / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D003937:Diagnosis, Differential; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000235:genetics; D005260:Female; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D057057:Serine Proteases / Q000235:genetics; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human
keywords: cerebellar atrophy; chorea; late-infantile neuronal ceroid lipofuscinoses; neuroregression