Chronic neuronopathic gaucher disease in Egyptian children : impact of enzyme replacement therapy

الملخص EN

Background: Gaucher disease (GD) type 3 is a chronically progressive form of the illness that can present with a range of severity of systemic disease and neurological deficit.

Enzyme Replacement therapy (ERT) has good effects on visceral and hematological disease but its effect on existing neurological signs and their progression is unclear.

There are reports that ERT can prevent further deterioration and even have positive effects on existing neurological symptoms.

Other reports have found no impact on the neurological disease and its further progression.

Aims: to evaluate the effects of ERT on various aspects of the systemic and neurologic abnormalities in 23 Egyptian patients with GDtype3.

Methods'.

Patients were started on ERT with a period of follow- up ranging from 4 to 9 years and were assessed every 6 to 12 months.

Assessment included anthropometric measurements, hematologic parameters, liver and splenic volumes as well as a thorough neurological evaluation.

Genotyping for glucocerebrosidase (GBA) gene mutations was performed by gene sequencing.

Results: After the start of ERT, there was marked improvement in hematological and growth parameters as well as decrease in liver and splenic volumes.

Patients had various combinations of neurological manifestations in the form of supranuclear gaze palsy, squint, myoclonus, bulbar signs, ataxia pyramidal, and extrapyramidal abnormalities, seizures, cognitive impairment as well as EEG changes.

Many of these signs improved, regressed or were stable whereas in a few patients there was deterioration.

Conclusion: ERT seems not only to slow down neurological deterioration but can also improve some of the neurological signs seen in mild to moderate GD type 3.

Though ERT wasn't recommended in many studies for the neurological deficit in these patients, our study showed that it can be quite effective in improving neurological manifestations in these patients.