title: Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.
abstract: We report a 10-month-old male infant with Type 2 Gaucher's disease. In addition to gradual arrest of neurological development, laryngospasm, opisthotonus, and limb rigidity, he presented characteristic oculomotor apraxia. History taking revealed that he had had abnormal horizontal gaze and had to turn his head to follow an object instead of moving the eyes alone. His eyes were in a divergent position while he was in a deep coma; however, when consciousness improved, he could open eyes with neutral eye position. Due to the impairment of reflex saccades, the doll's eye phenomenon was not reliable in evaluating the brainstem function when he was in the comatose stage. His leukocyte glucocerebrosidase activity was very low, but the typical Gaucher cell was absent in the sample of bone marrow aspiration. Molecular analysis by amplification refractory mutation system (ARMS) screening proved that he was a homozygote for T1448C mutation. To our knowledge, the T1448C gene frequency of Chinese Gaucher's disease is high. Thus, the ARMS screening method is applicable for further genetic diagnosis of Chinese Gaucher patients. Finally, this successful genetic diagnosis makes it possible in the future to perform prenatal diagnosis.
authors.affiliation: Department of Pediatrics, Taipei Municipal Women and Children's Hospital, Taiwan, R.O.C.
authors.forename: L P
authors.initials: LP
authors.lastname: Tsai
authors.forename: W C
authors.initials: WC
authors.lastname: Sue
authors.forename: W L
authors.initials: WL
authors.lastname: Hwu
authors.forename: K H
authors.initials: KH
authors.lastname: Lin
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
mesh_terms: D001072:Apraxias / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009460:Neurologic Examination; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012438:Saccades / Q000235:genetics*
chemical_list: D005962:Glucosylceramidase