ADULT GM2 GANGLIOSIDOSIS WITH CHERRY RED SPOT: A CLINICAL DIAGNOSIS

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LASHEYEI A.R.; MANAVIAT M.

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Journal Paper

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Journal: BINA Year:2004 | Volume:9 | Issue:4 (36) Page(s): 387-390

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Title

ADULT GM2 GANGLIOSIDOSIS WITH CHERRY RED SPOT: A CLINICAL DIAGNOSIS

Author(s)

LASHEYEI A.R. | MANAVIAT M. | Issue Writer Certificate

Keywords

ADULT GM2 GANGLIOSIDOSIS

CLINICAL DIAGNOSIS

Abstract

Purpose: To present a new case of clinical ADULT GM2 GANGLIOSIDOSIS with cherry red spot. Patient and findings: A 41-year-old male presented with progressive bilateral visual loss, ataxia, dystonia, dysarthria, and muscle weakness. Cherry red spots were evident in both his eyes. Other systemic examinations were unremarkable. A CLINICAL DIAGNOSIS of ADULT GM2 GANGLIOSIDOSIS was made but laboratory confirmation by white blood cell hexosaminidase A enzyme level was not available.Conclusion: ADULT GM2 GANGLIOSIDOSIS a rare lipid storage disease, which is associated with cherry red spot and progressive degenerative neurologic findings. Laboratory confirmation is by evaluation of white blood cell hexosaminidase A enzyme.

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APA: Copy

LASHEYEI, A.R., & MANAVIAT, M.. (2004). ADULT GM2 GANGLIOSIDOSIS WITH CHERRY RED SPOT: A CLINICAL DIAGNOSIS. BINA, 9(4 (36)), 387-390. SID. https://sid.ir/paper/538606/en

Vancouver: Copy

LASHEYEI A.R., MANAVIAT M.. ADULT GM2 GANGLIOSIDOSIS WITH CHERRY RED SPOT: A CLINICAL DIAGNOSIS. BINA[Internet]. 2004;9(4 (36)):387-390. Available from: https://sid.ir/paper/538606/en

IEEE: Copy

A.R. LASHEYEI, and M. MANAVIAT, “ADULT GM2 GANGLIOSIDOSIS WITH CHERRY RED SPOT: A CLINICAL DIAGNOSIS,” BINA, vol. 9, no. 4 (36), pp. 387–390, 2004, [Online]. Available: https://sid.ir/paper/538606/en

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