Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease

Overview

Journal Intern Med

Specialty General Medicine

Date 2023 Aug 9

PMID 37558486

Authors

Nanaka Yamaguchi-Takegami

Akiko Takahashi

Jun Mitsui

Yusuke Sugiyama

Ayaka Chikada

Kristine Joyce L Porto

Naoki Takegami

Kaori Sakuishi

Hiroyuki Ishiura

Kaoru Yamada

Jun Shimizu

Shoji Tsuji

Tatsushi Toda

Affiliations

Soon will be listed here.

Abstract

We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.

References

Kowarz L, Goker-Alpan O, Banerjee-Basu S, Lamarca M, Kinlaw L, Schiffmann R . Gaucher mutation N188S is associated with myoclonic epilepsy. Hum Mutat. 2005; 26(3):271-3. DOI: 10.1002/humu.20217. View

Wilson M, Shu L, Hinkovska-Galcheva V, Jin Y, Rajeswaran W, Abe A . Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3. ACS Chem Neurosci. 2020; 11(20):3464-3473. PMC: 7919060. DOI: 10.1021/acschemneuro.0c00558. View

Amaral O, Lacerda L, Marcao A, Pinto E, Tamagnini G, Sa Miranda M . Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. Clin Genet. 1999; 56(1):100-2. DOI: 10.1034/j.1399-0004.1999.560117.x. View

Bembi B, Zambito Marsala S, Sidransky E, Ciana G, Carrozzi M, Zorzon M . Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology. 2003; 61(1):99-101. DOI: 10.1212/01.wnl.0000072482.70963.d7. View

Iwanami S, Namba K, Tsukada T, Hosaka T, Tagami M, Kubota A . Multiple space-occupying lesions of the spleen in a case of Gaucher's disease. Intern Med. 1992; 31(4):557-60. DOI: 10.2169/internalmedicine.31.557. View

Sidransky E . Gaucher disease: insights from a rare Mendelian disorder. Discov Med. 2012; 14(77):273-81. PMC: 4141347. View

Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, AGHAI E . Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM. 1996; 89(9):691-4. DOI: 10.1093/qjmed/89.9.691. View

Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J . Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009; 66(5):571-6. DOI: 10.1001/archneurol.2009.72. View

Park J, Orvisky E, Tayebi N, Kaneski C, Lamarca M, Stubblefield B . Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res. 2003; 53(3):387-95. DOI: 10.1203/01.PDR.0000049515.79882.94. View

10.

Capablo J, Franco R, de Cabezon A, Alfonso P, Pocovi M, Giraldo P . Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. Epilepsia. 2007; 48(7):1406-8. DOI: 10.1111/j.1528-1167.2007.01074.x. View

11.

Brady R, Kanfer J, Shapiro D . METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE. Biochem Biophys Res Commun. 1965; 18:221-5. DOI: 10.1016/0006-291x(65)90743-6. View

12.

Tsuji S, Choudary P, Martin B, Stubblefield B, Mayor J, Barranger J . A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med. 1987; 316(10):570-5. DOI: 10.1056/NEJM198703053161002. View

13.

Tayebi N, Callahan M, Madike V, Stubblefield B, Orvisky E, Krasnewich D . Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab. 2001; 73(4):313-21. DOI: 10.1006/mgme.2001.3201. View

14.

Rosenbloom B, Balwani M, Bronstein J, Kolodny E, Sathe S, Gwosdow A . The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Mol Dis. 2010; 46(1):95-102. PMC: 4662380. DOI: 10.1016/j.bcmd.2010.10.006. View

15.

Machaczka M, Rucinska M, Skotnicki A, Jurczak W . Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol. 1999; 61(3):216-7. DOI: 10.1002/(sici)1096-8652(199907)61:3<216::aid-ajh12>3.0.co;2-b. View

16.

Alaei M, Tabrizi A, Jafari N, Mozafari H . Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. Iran J Child Neurol. 2019; 13(1):7-24. PMC: 6296697. View

17.

Roshan Lal T, Sidransky E . The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases. 2017; 5(1). PMC: 5456331. DOI: 10.3390/diseases5010010. View

18.

NEIL J, Glew R, Peters S . Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. Arch Neurol. 1979; 36(2):95-9. DOI: 10.1001/archneur.1979.00500380065007. View

19.

Collins L, Williams-Gray C, Morris E, Deegan P, Cox T, Barker R . The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series. J Neurol. 2018; 265(8):1789-1794. PMC: 6060775. DOI: 10.1007/s00415-018-8908-6. View

20.

Guimaraes J, Amaral O, Sa Miranda M . Adult-onset neuronopathic form of Gaucher's disease: a case report. Parkinsonism Relat Disord. 2003; 9(5):261-4. DOI: 10.1016/s1353-8020(02)00096-2. View