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Table of Contents    
Year : 2013  |  Volume : 61  |  Issue : 2  |  Page : 177-178

Horizontal gaze palsy with progressive myoclonic epilepsy: Rare presentation of Gaucher's disease

1 Department of Neurology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
2 Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
3 Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Date of Submission18-Jan-2013
Date of Decision20-Jan-2013
Date of Acceptance28-Mar-2013
Date of Web Publication29-Apr-2013

Correspondence Address:
Sudhir Sharma
Department of Neurology, Indira Gandhi Medical College, Shimla, Himachal Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.111136

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How to cite this article:
Sharma S, Lal V, Das R. Horizontal gaze palsy with progressive myoclonic epilepsy: Rare presentation of Gaucher's disease. Neurol India 2013;61:177-8

How to cite this URL:
Sharma S, Lal V, Das R. Horizontal gaze palsy with progressive myoclonic epilepsy: Rare presentation of Gaucher's disease. Neurol India [serial online] 2013 [cited 2023 Sep 29];61:177-8. Available from:


A 17-year-old male presented with myoclonic jerks and generalized tonic clonic seizures of 6 years duration and poor scholastic performance and cognitive decline of 2 years duration. Birth history was normal and there was no family history of similar illness. On examination, minimental status examination score was 16/30. Eye examination revealed markedly slow horizontal saccades with preserved vertical saccades [Video 1]. Fundus and retina examination was normal and there was no cherry red spot or retinitis pigmentosa. There was multifocal predominantly distal asymmetrical myoclonus in the upper limbs [Video 2]. Rest of the neurological examination was normal. Systemic examination revealed hepatosplenomegaly. Investigations revealed normal hemogram and routine serum biochemistry. Electroencephalogram revealed background slowing with generalized epileptiform discharges, bursts of multiple spikes predominantly over the posterior regions with marked photosensitivity. Magnetic resonance imaging revealed bilateral middle cranial fossa arachnoid cysts. Skeletal survey was normal. Peripheral smear for vacuolated lymphocytes was negative. Bone marrow examination revealed many histiocytes with abundant tissue paper like wrinkled cytoplasm suggestive of Gaucher cells [Figure 1]. Enzyme assay for beta-glucosidase revealed deficient enzyme levels (1.00 nmol/h/mg, Ref. range >4.00) confirming diagnosis of Gaucher's disease (GD) Type 3A.
Figure 1: Photomicrograph of bone marrow showing histiocytosis with abundant tissue paper like wrinkled cytoplasm suggestive of Gaucher cells

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GD has three phenotypic variants depending on absence (Type 1) or presence (Type 2 and 3) of the neurological deficit. Type 3 (juvenile form) is chronic neuronopathic form which presents in childhood but is slowly progressive. Patients may present with varying degrees of neurological and systemic manifestations. It is divided into three subgroups. Type 3A GD was first described in the Norrbottnian region of Northern Sweden. It is characterized by progressive dementia, ataxia, and myoclonus. Patients present with a clinical picture of progressive myoclonic epilepsy. Horizontal supranuclear gaze palsy however is a peculiar sign which may clinically differentiate Type 3A GD from other progressive myoclonic epilepsies especially sialodosis which also has visceral involvement in addition to neurological involvement. Patients with Type 3B GD have extensive visceral and bone involvement with central nervous system involvement limited to supranuclear gaze palsy. Type 3C is rare and is characterized by supranuclear gaze palsy, corneal opacity, and cardiovascular calcification, with little visceral disease.

The prevalence of GD in western hemisphere is around 1:40000 with Type 1 GD being the commonest. [1] Neuronopathic GD accounts for about 5% cases of GD in western hemisphere. This is in contrast to Asian countries like China where neuronopathic GD is reported to be more prevalent than Type 1 GD. [2] The prevalence and phenotypic spectrum of GD in India is currently unknown. However Type 1 GD is commonest in Indian reports with less than 10 reported cases of neuronopathic (Type 2 and 3) GD. [3],[4],[5],[6] In the largest Indian case series of GD by Nagral et al., 27% patients had Type 3 GD, however none of them had myoclonus or seizures. [5] To the best of our knowledge this is the first case report of Type 3A GD from India.

 » References Top

1.Mehta A. Epidemiology and natural history of Gaucher's disease. Eur J Intern Med 2006;17 Suppl: S2-5.  Back to cited text no. 1
2.Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, et al. Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis 2007;38:287-93.  Back to cited text no. 2
3.Kaur M, Kabra M, Kher A, Naik G, Bharucha BA, Verma IC. Clinical and enzyme studies in Gaucher disease. Indian Pediatr 1996;33:735-8.  Back to cited text no. 3
4.Shah S, Misri A, Bhat M, Maheshwari S. Gaucher's disease type III C: Unusual cause of intracardiac calcification. Ann Pediatr Cardiol 2008;1:144-6.  Back to cited text no. 4
5.Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, Verma IC, et al. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatr 2011;48:779-84.  Back to cited text no. 5
6.Mohindroo S. Type-3 Gaucher disease with bilateral necrosis of the neck of femur: A case report. Cases J 2009;2:9380.  Back to cited text no. 6


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