Journal of Inherited Metabolic Disease

, Volume 36, Issue 6, pp 1025–1037 | Cite as

Evoked potentails and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experience

  • Azza Abdel Gawad Tantawy
  • Eman Mounir Sherif
  • Amira Abdel Moneam Adly
  • Sahar Hassanine
  • Amina Hafez Awad
Original Article



Effectiveness of enzyme replacement therapy (ERT) in reverting hematologic, skeletal, and visceral symptoms in Gaucher disease (GD) has been demonstrated, although, its efficacy in neurologic involvement is still debated.


We evaluated the extent of neuro-cognitive dysfunction using brain stem evoked potential in GD3 patients, age-matched controls, and GD1 patients without neurological manifestations served as disease control group.


Study included 56 GD (36 had type 1, 20 had type 3) under ERT. Investigations included complete blood count, beta glucosidase assay in peipheral leucocytes, plasma chitotriosidase and bone marrow examination, electroencephalography, brain stem auditory (AEP), somatosensory (SSEP) and visual evoked potentials (VEP) as well as IQ testing.


Both types of GD showed significantly higher mean latency at 75 on left eye, lower PP amplitude ratio, higher latency at 75, 100, 145, lower amplitude, and higher Lat Diff LT-RT ms and Lt-Rt % compared to controls (p < 0.05) with no difference between both groups in other values of VEP. Both groups showed significantly prolonged latency of N 13–19 compared to controls (p < 0.05) with positive correlation between age and duration of therapy with parameters of SSEP (p < 0.01). Both groups of GD had significantly prolonged latency of the mean waves of AEP compared to controls (p < 0.05) with no significant difference between both groups. There was a negative correlation between age and waves II, III, I–III, I–V and threshold values of AEP. IQ level was positively correlated with AEP values. Severity scoring tool was positively correlated with AEP and SSEP values.


Electrophysiological abnormalities were present in both types of GD and have been correlated to cognitive function and disease characteristics.


Enzyme Replacement Therapy Gauche Disease Visual Evoke Potential Miglustat Gauche Disease Type 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Conflict of interest



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Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Azza Abdel Gawad Tantawy
    • 1
  • Eman Mounir Sherif
    • 1
  • Amira Abdel Moneam Adly
    • 1
  • Sahar Hassanine
    • 1
  • Amina Hafez Awad
    • 2
  1. 1.Pediatrics Department, Faculty of MedicineAin Shams University Children’s HospitalCairoEgypt
  2. 2.Child Health DepartmentNational Research CentreCairoEgypt

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