Abstract
A 7-month-old infant was admitted to the hospital because of afebrile convulsion. The patient was born with a normal pregnancy at full term. The delivery was uncomplicated. He developed normally until 3 months of age. However, he manifested stridor and poor feeding at 4 months old and exhibited retroflexion of the neck and strabismus. Feeding problems and difficulty in handling secretion appeared at 6 months old. He manifested tonic-clonic convulsion without fever. Since convulsion continued for more than 30 min, he was transferred to the emergency room.
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Amaral O, Lacerda L, Marcao A, Pinto E, Tamagnini G, Miranda MCS (1999) Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. Clin Genet 56:100–102
Andersson H, Kaplan P, Kacena K, Yee J (2008) Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 122:1182–1190
Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Ross L, Angell J, Puga AC (2015) Eliglustat compared with imiglucerase in patients with Gaucher’s disease type 1 stabilized on enzyme replacement therapy: a phase 3, randomized, open-label, non-inferiority trial. Lancet 385:2355–2362
Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodony EH, Brady RO, Barton NW, Abrahamov A, Zimran A (1993) Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am J Hum Genet 53:921–930
Ida H, Iwasawa K, Kawame H, Rennert OM, Maekawa K, Eto Y (1995) Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet 95:717–720
Ida H, Rennert OM, Ito T, Maekawa K, Eto Y (1998) Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. Blood Cells, Mol Dis 24:73–81
Narita A, Higaki K, Maegaki Y, Ohno K, Suzuki Y (2016) Ambroxol chaperone therapy for neuronopathic Gaucher disease: a pilot study. Ann Clin Translat Neurol 3:200–215
Parenti G (2009) Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med 1:268–279
Ringden O, Groth CG, Erikson A, Granqvist S, Mansson JE, Sparrelid E (1995) Ten years’s experience of bone marrow transplantation for Gaucher disease. Transplantation 59:864–870
Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA (1993) Phenotype/genotype correlations in Gaucher disease type 1: clinical and therapeutic implications. Am J Hum Genet 52:1094–1101
Tajima A, Yokoi T, Ariga M, Ito T, Kaneshiro E, Eto Y, Ida H (2009) Clinical and genetic study of Japanese patients with type 3 Gaucher disease. Mol Genet Metab 97:272–277
Weinreb NJ, Charrow J, Andersson HC, Laplan P, Kolodony EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A (2002) Effectiveness of ERT in 1028 patients with type 1 Gaucher disease after 2 to 5 years treatment. Am J Med 113:112–119
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Ida, H. (2019). Gaucher Disease. In: Oohashi, T., Tsukahara, H., Ramirez, F., Barber, C., Otsuka, F. (eds) Human Pathobiochemistry. Springer, Singapore. https://doi.org/10.1007/978-981-13-2977-7_6
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DOI: https://doi.org/10.1007/978-981-13-2977-7_6
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