RESUMO
Familial dysautonomia (Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex-associated protein gene. The disease, which affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining the depletion of autonomic and sensory neurons. In this study, we report a 5-year-old girl with familial dysautonomia, and how her different psychiatric aspects may lead to genetic vulnerability. Obviously, the gene, the reason for this syndrome, and overreactions to different kinds of emotions, maybe a risk factor for having any mood disorders. From another perspective, this "genetic vulnerability" may be protective or related to the syndromes that affect social communication like autism.
RESUMO
Munchausen syndrome by proxy (MBP) is an extreme form of child abuse where children were unnecessarily treated or investigated for medical conditions that were falsified by their caregivers. Here the authors report a 16-year-old female with the complaints of bleeding from multiple and unusual sites, including hemoptysis, hematuria, bloody tears, and bloody nipple discharge, all of which are only witnessed by her mother. Extensive investigation revealed no organic etiologies for bleeding. The diagnosis of MBP was put by a multidisciplinary team. The diagnosis of MBP must be kept in mind in conditions where there is no underlying organic pathology in a bleeding patient.
