[Type 3 Gaucher disease, also an adult disease?] / Maladie de Gaucher de type 3, une maladie également de l'adulte ?

INTRODUCTION: Gaucher disease is a genetic lysosomal storage disorder due to a glucocerebrosidase deficiency. Type 3, including neurological impairment, may have a specific phenotype in the context of the D409H mutation. OBSERVATION: We report the case of a 22-year-old woman who presented with Gaucher disease. Enzyme replacement therapy by imiglucerase was followed by rapid clinical and biological improvement. However, communication difficulties, which were initially attributed to the language barrier, revealed neurological impairment. After complementary assessment, the diagnosis of type 3 Gaucher disease was suspected. Gene analysis of the glucocerebrosidase showed a homozygous D409H mutation. CONCLUSION: This mutation results in calcified heart valves, corneal opacities, alteration of oculomotricity and hydrocephalus. The mild manifestation at onset and the late neurological involvement in the medical history make the diagnosis more difficult. This particular clinical phenotype deserves to be known in adult medicine departments.

Prenatal consultation after a fetal anomaly scan: videotaped exploration of physician's attitude and patient's satisfaction.

The main aim of the study was to evaluate the relationship between the physician's attitude (using the non-verbal Global Affective Measure of the Roter Analaysis System and the Counselor Rating Form-short version) and the satisfaction of the pregnant women with the prenatal consultation. A secondary aim was to evaluate the women's recall of essential information (i.e. location, severity, prognosis and cause of the anomaly). To this end, 24 prenatal consultations (pregnant women, partners and physicians) were videotaped following a fetal anomaly scan, and a few days later, the pregnant women completed questionnaires to assess their perception of the physician's attitude and their satisfaction with the consultation and the extent to which they could recall the essentials of the information given about the fetal anomaly. In descending order, the physician's dominance/assertiveness (i.e. being self-confident and decisive) (assessment of the videotapes by two psychologists), trustworthiness (women's report) and expertise were significantly positively associated with the women's overall satisfaction, i.e. satisfaction with the information given and affective behaviour on the part of the physician during the prenatal consultation. All the women (n=24) recalled the essentials of the information given about the location of the fetal anomaly. The majority of them correctly reproduced the severity, the prognosis and the cause of the anomaly. Our findings indicate that women in whom a fetal anomaly has been detected derive particular benefit from a self-confident, decisive, expert and trustworthy physician.