We report the unusual case of a dysmorphic child with global developmental delay secondary to a familial complex chromosomal rearrangement (CCR). His chromosomal analysis using G-banding and dual colour fluorescence in situ hybridisation with whole chromosome paint revealed a supernumerary marker chromosome as a result of malsegregation of a familial CCR involving chromosomes 7, 12 and 14. The balanced form of this familial CCR was also carried by the patient's mother and maternal grandmother, both of whom had a history of recurrent spontaneous abortions, as well as his maternal uncle, who was infertile. To the best of our knowledge, this is the first reported case of familial CCR involving chromosomes 7, 12 and 14. This case also highlights the importance of chromosomal analysis in children with dysmorphism and developmental delay as well as in adults who suffer from recurrent spontaneous abortions or infertility.
The monitoring of craniospinal compliance is uncommonly used clinically despite it's value. The Spiegelberg compliance monitor calculates intracranial compliance (C = deltaV/deltaP) from a moving average of small ICP perturbations (deltaP) resulting from a sequence of up to 200 pulses of added volume (deltaV = 0.1 ml, total V = 0.2 ml) made into a double lumen intraventricular balloon catheter. The objective of this study was thus to determine the effectiveness of the decompressive craniectomy done on the worst brain site with regard to compliance (Cl), pressure volume index (PVI), jugular oximetry (SjVo2), autoregulation abnormalties, brain tissue oxygen (TiO2) and cerebral blood flow (CBF). This is a prospective cohort study of 17 patients who were enrolled after consent and approval of the ethics committee between the beginning of the year 2001 and end of the year 2002. For pre and post assessment on compliance and PVI, all 12 patients who survived were reported to become normal after decompressive craniectomy. There is no significant association between pre and post craniectomy assessment in jugular oxymetry (p > 0.05), autoregulation (p > 0.05), intracranial brain oxymetry (p = 0.125) and cerebral blood flow (p = 0.375). Compliance and PVI improved dramatically in all alive patients who received decompressive craniectomy. Compliance and PVI monitoring may be crucial in improving the outcome of severe head injured patients after decompressive craniectomy.
The determination of cerebral perfusion pressure (CPP) is regarded as vital in monitoring patients with severe traumatic brain injury. Besides indicating the status of cerebral blood flow (CBF), it also reveals the status of intracranial pressure (ICP). The abnormal or suboptimal level of CPP is commonly correlated with high values of ICP and therefore with poor patient outcomes. Eighty-two patients were divided into three groups of patients receiving treatment based on CPP and CBF, ICP alone, and conservative methods during two different observation periods. The characteristics of these three groups were compared based on age, sex, time between injury and hospital arrival, Glasgow Coma Scale score, pupillary reaction to light, surgical intervention, and computerized tomography scanning findings according to the Marshall classification system. Only time between injury and arrival (p = 0.001) was statistically significant. There was a statistically significant difference in the proportions of good outcomes between the multimodality group compared with the group of patients that underwent a single intracranial-based monitoring method and the group that received no monitoring (p = 0.003) based on a disability rating scale after a follow up of 12 months. Death was the focus of outcome in this study in which the multimodality approach to monitoring had superior results.