The treatment of ES includes neoadjuvant and adjuvant chemotherapies with surgery and/or radiotherapy for control of the primary site and possible metastatic disease. The role of high-dose chemotherapy is still debated.
IntroductionPersistent encopresis is part of a fairly specific pathologic complex including personality, and familial factors. To a very large extent, interest in encopresis issues has revolved around the mother–child relationship.ObjectivesIn this study, we aimed to assess the psychological profile and the counter attitudes of encopretic children's mothers.MethodsWe led a retrospective and descriptive study carrying on 91 medical records of children with encopresis, followed in the outpatient child psychiatry department of the Hédi Chaker university hospital of Sfax over a period of seven years, going from January 1st, 2000 till December 31st, 2006.ResultsIn our study, emotional deprivation was noted in 62.2% of cases. Besides, repeated separations from mothers were noted in 26.4% of cases with 2.2% cases of prolonged separations. Our study also revealed that 19.8% of mothers have obsessive personality traits while 14% have rather anxious traits. Furthermore, 6.6% of encopretic children's mothers were found to have anxio-depressive spectrum disorders according to the DSM-IV-TR. Mothers’ intolerance towards encopresis was estimated at 53.3%. This intolerance was mainly reflected in physical punishment, depreciation, blame and humiliation. Toilet training was rigid in more than half of cases (62.2%).ConclusionChildhood encopresis can be viewed as a result of a maternal-child conflict. In fact, the mother–child relationship appears to be directly involved in the genesis of encopresis. Nevertheless, the role of the own child neurodevelopmental state in response to the family system should not be ignored.Disclosure of interestThe authors have not supplied their declaration of competing interest.
mTOR controls several important aspects of cell function particularly in the nervous system. Its hyperactivation has been involved in tuberous sclerosis complex (TSC) and other mTORopathies as well as drug-resistant epilepsy. Mutations in TSC1 and TSC2 genes cause loss of normal inhibition of mTORC1 complex, leading to cell overgrowth and disruptions in synaptogenesis. Many children and adults with TSC harbour neurologic defects especially subependymal giant cell astrocytomas (SEGAs) in the brain. Here, we have performed mutational analysis followed by a genetic counselling for a Tunisian family from Sfax town harboring epileptic seizures associated to a neurocutaneous disorder. Index cases were referred for renal angiolipomas (RAL) associated to seizures crisis and were diagnosed as having TSC. The first 26-year-old patient complained of epilepsy since the age of 22 with left temporal crisis related to cortical tubers near the Heschl’s gyrus. His brother, a 36-year-old man presented more severe epileptic crisis (since 15 years-old), multiples RAL, subependymal nodules, and a rapid evolution of his mTORopathy with tumoral progression of his renal and central nerve lesions: renal cell carcinoma and SEGAs. TSC1 gene mutation screening showed heterozygous two bp deletion at codons 213 and 214 of exon 5. SEGAs are rare, low-grade glioneuronal brain tumors that occur almost exclusively in TSC patients but can lead to nervous complications. We showed through this report, the predictive value of germinal TSC mutations screening in familial cases, because early recognition of the molecular defect may lead to appropriate management of the tumoral progression.
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