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GAUCHER DISEASE AND MISCELLANEOUS
Author(s) -
Wendt S.,
Mengel E.,
Beck M.
Publication year - 2006
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2006.tb02404.x
Subject(s) - medicine , enzyme replacement therapy , gaucher's disease , disease , glucocerebrosidase , pediatrics , gastroenterology , age of onset
The most common subtype of Gaucher disease is the non‐neuronopathic form with only visceral symptoms. At the opposite end of the spectrum is chronic neuronopathic Gaucher disease with severe neurological symptoms and typically a decreased life span. Methods: We report 15 patients (median age at manifestation, 1.2 years) with chronic neuronopathic Gaucher disease and 20 patients with non‐neuronopathic Gaucher disease (median age at manifestation, 3.0 years). Results: In most patients with chronic neuronopathic Gaucher disease (12 out of 15), the 1448T‐C mutation was found, whereas in 18 out of 20 patients with non‐neuronopathic Gaucher disease the mutation identified was N370S. At initial presentation, patients with chronic neuronopathic Gaucher disease had significantly higher chitotriosidase levels (median, 21 307 versus 5611 nmol/ml/hour). Thirteen of these patients had a strabismus, all patients suffered from saccade initiation failure, and eight of the nine patients assessed showed abnormal brainstem auditory evoked response (BAER) (none of these were found in patients with non‐neuronopathic disease). Three of the patients with neuronopathic disease had multifocal myoclonic epilepsy. Additionally, in ten of these patients pulmonary manifestation was seen (versus three of the patients with non‐neuronopathic Gaucher disease). After treatment with enzyme replacement therapy (60–120 IU/kg) for between 18 months and 8 years, three of the children with chronic neuronopathic Gaucher disease experienced an improvement in BAER. Eight out of the nine patients with bone pain before enzyme replacement therapy had no pain. The patients with non‐neuronopathic Gaucher disease received 60 IU/kg or less to maintain their therapy response and were observed for 3–13 years. Conclusion: Neurological manifestations are often associated with chitotriosidase activities greater than 20 000. In patients with chronic neuronopathic Gaucher disease, a higher dose between 60 and 120 IU/kg bodyweight may be required to reduce the visceral manifestations of disease.