Type 2 Gaucher disease: 15 new cases and review of the literature

Frederickson, 1973, Glucosylceramide lipidoses: Gaucher's disease, 730 Sidransky, 1997, New perspectives in type 2 Gaucher disease, Adv Pediatr, 44, 73 Oberling, 1927, La maladie de Gaucher chez le nourrisson, Revue Française de Pédiatrie, 3, 475 Meyer, 1932, Syndrome neurologique et diagnostic clinique de la maladie de Gaucher du nourrisson, Revue Française de Pédiatrie, 2, 559 Aballi, 1938, Gaucher disease in early infancy, J Pediatr, 13, 364, 10.1016/S0022-3476(38)80146-3 Giampalmo, 1949, Über die Pathologie des Gaucherschen Krankheit im frühen Kindersalter (mit besonderer Berücksichtigung der neurologischen Form), Acta Paediatr, 37, 6, 10.1111/j.1651-2227.1949.tb15551.x Mignot, 2003, Perinatal-lethal Gaucher disease, Am J Med Genet A, 120, 338, 10.1002/ajmg.a.20117 Peters, 1976, Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate, Arch Biochem Biophys, 175, 569, 10.1016/0003-9861(76)90547-6 Migita, 2003, Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy—unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease, Eur J Pediatr, 162, 524, 10.1007/s00431-001-0859-7 Ono, 2001, Neurological features in Gaucher's disease during enzyme replacement therapy, Acta Paediatr, 90, 229, 10.1111/j.1651-2227.2001.tb00291.x Campbell, 2003, A model of neuronopathic Gaucher disease, J Inherit Metab Dis, 26, 629, 10.1023/B:BOLI.0000005619.14180.5c Felderhoff-Mueser, 2004, Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence, Am J Med Genet A, 128, 138, 10.1002/ajmg.a.20445 Church, 2004, Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype, Eur J Hum Genet, 12, 975, 10.1038/sj.ejhg.5201251 Kaga, 1998, Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response, J Laryngol Otol, 112, 1069, 10.1017/S0022215100142483 Sidransky, 1993, Clinical heterogeneity among patients with Gaucher's disease, J Am Med Assoc, 269, 1154, 10.1001/jama.1993.03500090090038 Debré, 1951, Maladie de Gaucher du nourrisson, Arch Fr Pediatr, 8, 38 Prows, 1997, Gaucher disease: enzyme therapy in the acute neuronopathic variant, Am J Med Genet, 71, 16, 10.1002/(SICI)1096-8628(19970711)71:1<16::AID-AJMG3>3.0.CO;2-O Erikson, 1993, Enzyme replacement therapy of infantile Gaucher disease, Neuropediatrics, 24, 237, 10.1055/s-2008-1071549 Drei, 1982, Epatite neonatale in malattia di Gaucher acuta infantile, Pediatr Med Chir, 4, 275 Fujimoto, 1995, Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease, Am J Med Genet, 59, 356, 10.1002/ajmg.1320590315 Guibaud, 1978, La forme infantile de la maladie de Gaucher étude clinique et biologique d'une observation, Arch Fr Pediatr, 35, 949 Forster, 1978, Acute neuropathic Gaucher disease in a black infant, J Pediatr, 93, 823, 10.1016/S0022-3476(78)81093-2 Laosombat, 1985, Acute neuronopathic (type 2) Gaucher disease in siblings in southern Thailand, J Med Assoc Thai, 68, 92 Grover, 1978, Clinical variation in 2 related children with neuronopathic Gaucher disease, Ann Neurol, 3, 281, 10.1002/ana.410030316 Tsai, 1996, Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation, Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi, 37, 52 Banker, 1962, The cerebral pathology of infantile Gaucher's disease, 73 Bodamer, 2002, Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S), Am J Med Genet, 109, 328, 10.1002/ajmg.10385 Grafe, 1988, Infantile Gaucher's disease: a case with neuronal storage, Ann Neurol, 23, 300, 10.1002/ana.410230315 Lin, 1999, Technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease, Pediatr Neurol, 20, 66, 10.1016/S0887-8994(98)00101-5 Bernard, 1961, Maladie de Gaucher du nourrisson à manifestations cérébrales prédominantes, Pédiatrie, 16, 285 Jedidi, 1966, Maladie de Gaucher du nourrisson à manifestations neurologiques prédominantes, Tunis Med, 44, 85 Meyer, 1934, Nouveau cas de syndrome pseudo-bulbaire du nourrisson (maladie de Gaucher du nourrisson), Revue Neurologique, 2, 612 Cervos-Navarro, 1990, Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease, Clin Neuropathol, 9, 310 Marini, 1968, La malattia di Gaucher nel lattante. Descrizione di un caso con tipica sintomatologica neurologica, Pediatria (Napoli), 31, 969 Leech, 1985, Gaucher's disease: a case history with extensive lipid storage in the brain, Am J Clin Pathol, 83, 516, 10.1093/ajcp/83.4.516 Pecorella, 1961, Considerazioni su un casi di malattia di Gaucher nella primera infanzia, Riv Clin Pediatr, 68, 110 Lee, 2001, Type II Gaucher disease: compound heterozygote with RecNCiI and L444P mutations, J Trop Pediatr, 47, 115, 10.1093/tropej/47.2.110-a Espinas, 1969, Acute infantile Gaucher's disease in identical twins. An account of clinical and neuropathologic observations, Neurology, 19, 133, 10.1212/WNL.19.2.133 Philippart, 1967, Isolation and characterization of the principal cerebral glycolipids in the infantile and adult form of Gaucher's disease, 389 Sengers, 1975, Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts, Neuropadiatrie, 6, 377, 10.1055/s-0028-1091678 Kostitch-Yoksitch, 1952, A propos d'un cas de maladie de Gaucher de l'enfant, Le Sang, 23, 586 Laks, 1987, The varied clinical and laboratory manifestations of type II Gaucher's disease, Acta Paediatr Scand, 76, 378, 10.1111/j.1651-2227.1987.tb10485.x Bolande, 1971, Hepatosplenomegaly with opisthotonus in an infant, J Pediatr, 79, 142, 10.1016/S0022-3476(71)80078-1 White, 1952, Acute infantile Gaucher disease, Proc R Soc Med, 52, 642 Verity, 1977, Infantile Gaucher's disease: neuropathology, acid hydrolase activities and negative staining observations, Neuropadiatrie, 8, 89, 10.1055/s-0028-1091508 Shebani, 2003, A patient with type 2 Gaucher's disease with respiratory disease, J Pediatr, 142, 209, 10.1067/mpd.2003.50 Kaye, 1986, Type 2 and type 3 Gaucher disease: a morphological and biochemical study, Ann Neurol, 20, 223, 10.1002/ana.410200208 Adachi, 1967, Fine structure of central nervous system in early infantile Gaucher's disease, Arch Pathol, 83, 513 Stein, 1961, Acute infantile Gaucher disease, Pediatrics, 27, 491, 10.1542/peds.27.3.491 Giardini, 1977, Un caso acuto infantile di malattia di Gaucher, Minerva Pediatr, 29, 161 Chang, 2000, MRI in acute neuropathic Gaucher's disease, Neuroradiology, 42, 48, 10.1007/s002340050012 Lee, 2001, Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations, J Trop Pediatr, 47, 115, 10.1093/tropej/47.2.115 Wenger, 1982, Acute neuronopathic (infantile) and chronic nonneuronopathic (adult) Gaucher disease in full siblings, J Pediatr, 100, 252, 10.1016/S0022-3476(82)80650-1 Rodgers, 1951, Acute infantile Gaucher's disease, Pediatrics, 53, 10.1542/peds.7.1.53 Erikson, 1986, Gaucher disease—Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment, Acta Paediatr Scand Suppl, 326, 1, 10.1111/j.1651-2227.1986.tb14936.x Cogan, 1981, Ocular motor signs in some metabolic diseases, Arch Ophtalmol, 99, 1802, 10.1001/archopht.1981.03930020676010 Frei, 2002, Myoclonus in Gaucher disease, Adv Neurol, 89, 41 Park, 2003, Myoclonic epilepsy in Gaucher disease: genotype–phenotype insights from a rare patient subgroup, Pediatr Res, 53, 387, 10.1203/01.PDR.0000049515.79882.94 Goker-Alpan, 2003, Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3, J Pediatr, 143, 273, 10.1067/S0022-3476(03)00302-0 Barlow, 1957, Neuropathologic findings in a case of infantile Gaucher disease, J Neuropathol Exp Neurol, 16, 238, 10.1097/00005072-195704000-00003 Bove, 1995, Pathological findings in Gaucher disease type 2 patients following enzyme therapy, Hum Pathol, 26, 1040, 10.1016/0046-8177(95)90097-7 Hernandez, 1973, Infantile neurological Gaucher's disease in three siblings. An ultrastructural study, Virchows Arch A Pathol Pathol Anat, 360, 27, 10.1007/BF00548655 Geddes, 1953, Acute (infantile) Gaucher's disease. Report of a case, the second in a family, J Pediatr, 43, 61, 10.1016/S0022-3476(53)80090-9 Buchanan, 1970, Acute Gaucher's disease in an African infant, S Afr Med J, 44, 203 Takahashi, 1998, Enzyme therapy in Gaucher disease type 2: an autopsy case, Tohoku J Exp Med, 186, 143, 10.1620/tjem.186.143 Ogunlesi, 1962, Gaucher's disease in a Nigerian infant, J Trop Pediatr, 8, 45, 10.1093/oxfordjournals.tropej.a057625 Mizukami, 2002, Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage, J Clin Invest, 109, 1215, 10.1172/JCI0214530 Rogowski, 2005, Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model, Blood Cells Mol Dis, 34, 26, 10.1016/j.bcmd.2004.08.023