title: The absence of later wave components in auditory brainstem responses as an initial manifestation of type 2 Gaucher disease.
abstract: BACKGROUND
  Type 2 Gaucher disease is the most severe neuronopathic form of Gaucher disease and is characterized by severe neurodegeneration with brainstem involvement and organ failure. Prediction or diagnosis of type 2 Gaucher disease before the development of neurological complications is difficult.
  
  
  METHODS
  A 5-month-old female infant presented with deafness without other neurological abnormalities. Auditory brainstem response analysis revealed the absence of later wave components. Two months later, muscular rigidity became evident, followed by the development of opisthotonus and strabismus. Rapid progression of splenomegaly led to the diagnosis of type 2 Gaucher disease.
  
  
  CONCLUSIONS
  Abnormal auditory brainstem response findings may already exist before the development of severe brainstem abnormalities such as muscular rigidity and opisthotonus in type 2 Gaucher disease. When patients present with deafness and absent later wave components on auditory brainstem response, type 2 Gaucher disease should be included in the differential diagnosis even in the absence of other neurological abnormalities.
authors.affiliation: Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan. Electronic address: sunning_dale@yahoo.co.jp.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Okubo
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Goto
authors.affiliation: Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sakakibara
authors.affiliation: Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Terakawa
authors.affiliation: Department of Hemato-oncology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kaneko
authors.affiliation: Department of Neurology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Sahoko
authors.initials: S
authors.lastname: Miyama
mesh_terms: D003638:Deafness / Q000209:etiology / Q000503:physiopathology; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology*; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D013163:Splenomegaly / Q000209:etiology / Q000473:pathology
keywords: deafness; failure to thrive; splenomegaly