ABSTRACT
Abstract: Adolescents and young adults with Down syndrome (DS) can present a rapid regression with loss of independence and daily skills. Causes of regression are unknown and treatment is most of the time symptomatic. We did a retrospective cohort study of regression cases: patients were born between 1959 and 2000, and were followed from 1984 to now. We found 30 DS patients aged 11 to 30 years old with history of regression. Regression occurred regardless of the cognitive level (severe, moderate, or mild intellectual disability (ID)). Patients presented psychiatric symptoms (catatonia, depression, delusions, stereotypies, etc.), partial or total loss of independence in activities of daily living (dressing, toilet, meals, and continence), language impairment (silence, whispered voice, etc.), and loss of academic skills. All patients experienced severe emotional stress prior to regression, which may be considered the trigger. Partial or total recovery was observed for about 50% of them. In our cohort, girls were more frequently affected than boys (64%). Neurobiological hypotheses are discussed as well as preventative and therapeutic approaches.
ABSTRACT
Agranulocytosis is an acute disease with severe leucopenia, especially with low neutrophils, elements with an essential role in the organism's defense. It is more frequent at adult age (between 30 to 70 years of age) especially in women. We present the case of a 84 years old patient that, following passive exposure to pesticides, develops a severe neutropenia with a fast response to the administration of Methylprednisolone and granulocyte colony-stimulating factor (G-CSF-Filgrastim 48MIU/0.8mL/day, for three days). The diagnostic certainty was set by the bone marrow puncture which excluded a possible aleukemic acute leukemia or a myelodysplastic syndrome.
