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Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood
  1. N BAUMANN,
  2. M LEFÈVRE,
  3. JC TURPIN
  1. Laboratoire de Neurochimie INSERM Unit 495
  2. Salpetriere Hospital, 47 Boulevard de l'Hopital
  3. 75651 Paris cedex 13, France
  4. Fédération de Neurologie /INSERM CJF 97/11 Salpetriere Hospital, 47 Bd de l'Hopital
  5. 75651 Paris cedex 13, France
  6. Department of Biochemistry, Faculty of Medicine, Academic Medical Center University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam
  7. The Netherlands
  1. Dr N Baumann baumann{at}ccr.jussieu.fr
  1. B FONTAINE,
  2. H HOSSEINI
  1. Laboratoire de Neurochimie INSERM Unit 495
  2. Salpetriere Hospital, 47 Boulevard de l'Hopital
  3. 75651 Paris cedex 13, France
  4. Fédération de Neurologie /INSERM CJF 97/11 Salpetriere Hospital, 47 Bd de l'Hopital
  5. 75651 Paris cedex 13, France
  6. Department of Biochemistry, Faculty of Medicine, Academic Medical Center University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam
  7. The Netherlands
  1. Dr N Baumann baumann{at}ccr.jussieu.fr
  1. H AERTS,
  2. S VAN WEELY
  1. Laboratoire de Neurochimie INSERM Unit 495
  2. Salpetriere Hospital, 47 Boulevard de l'Hopital
  3. 75651 Paris cedex 13, France
  4. Fédération de Neurologie /INSERM CJF 97/11 Salpetriere Hospital, 47 Bd de l'Hopital
  5. 75651 Paris cedex 13, France
  6. Department of Biochemistry, Faculty of Medicine, Academic Medical Center University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam
  7. The Netherlands
  1. Dr N Baumann baumann{at}ccr.jussieu.fr

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Gaucher's disease1 is caused by a deficiency in glucocerebrosidase which gives rise to the accumulation of glucosylceramide (glucocerebroside) in the lysosomes of cells mainly found in the reticuloendothelial system. Type 1, the chronic adult form, is the most frequent, and characterised by splenomegaly, hepatomegaly, pancytopenia, and skeletal degeneration, but does not involve neurological manifestations. Type 2, also called acute neuronopathic, is an early infantile form, usually terminating life in 1 or 2 years. Type 3 is a chronic form which affects the nervous system, usually in late childhood or adolescence. We report here the case of a patient with Gaucher's disease who was diagnosed in early infancy (6 months) in a paediatric institution. He was followed up again between the ages of 26 and 34, a period during which he benefited from enzyme substitutive therapy.

This male patient had no familial history of Gaucher's disease. Pregnancy and birth were normal. At 6 months, he presented with dysfunction of ocular motility in the vertical gaze, oculocephalic asynergy, hepatosplenomegaly, and was found to carry Gaucher's cells in his bone marrow. Abnormal gait and pyramidal signs followed around 4 years of age. There was a macular cherry red spot. Acid phosphatases were increased at that age. Nevertheless, there were no abnormalities of staturoponderal milestones and no cognitive dysfunction. He went to school until the age of 16.

Mutation analysis of the glucocerebrosidase (GC) gene. Father (lane 1); mother (lane 2); patient (lane 3). Genomic DNA was isolated from leucocytes and the GC mutations were performed by restriction enzyme digestions on polymerase chain reaction amplification of genomic DNA exactly as described by Boot et al4. The upper panel shows the analysis of the …

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