MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.
With advances in medical technology more can be offered with respect to treatment, for example, in neonates born prematurely. This raises the public's expectations of what medical professionals can offer and puts healthcare professionals under pressure to continue treatment, which may ultimately be futile. The courts may be asked to intervene in those cases where there is disagreement between parents and healthcare professionals. This may occur where doctors refuse to instigate or continue futile treatments or where treatment is not felt to be in the best interests of the patient. Cases may also be referred to the courts where doctors feel treatment options do exist but those with parental responsibility refuse to consent. Disagreement may also occur between parents. The best interests of the child are paramount and their welfare should always be the primary consideration. However, the court's opinion will be increasingly sought as parents' expectations increase and doctors fear litigation if they act against the parents' wishes. This paper reviews the role of the courts, using a number of high profile cases as examples. While the courts generally support the views of the healthcare professional, this cannot be guaranteed.