Anaesthesia for the neonate

Canadian Journal of Anesthesia/Journal canadien d'anesthésie -     

Management of 46, XY partial gonadal dysgenesis--revisited

46, XY partial gonadal dysgenesis is a rare condition characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and usually absence of regression of Müllerian structures. The management of patients with these disorders warrants revisiting, owing to recent molecular biological findings and to reports on the long-term outcome of individuals with ambiguous genitalia. We report on a patient with 46, XY chromosomes, presence of the "sex-determining region of Y chromosome" (SRY) gene, scrotal gonads, fallopain tubes, uterus, vagina, and ambiguous genitalia with a penisoid, perineal hypospadia and sinus urogenitalis. Gonadal biopsy revealed virtually normal testicular tissue in both gonads. Removal of the gonads during surgery for a cystic adnex tumor revealed clear signs of partial gonadal dysgenesis. The decision to raise the child as a male was made by parents and physicians caring for the patient. Administration of testosterone, removal of the uterus and adnexes, in addition to repair of the hypospadia permitted an almost normal penis to be formed with normal male micturition. In the management of affected patients it has to be considered that establishing the diagnosis may be extremely tricky, even with the use of gonadal biopsies. The decision on sex assignment may be even more difficult, since future gender identity, limitations of genital reconstructive surgery and the potential for development of gonadal tumors have to be taken into consideration. While in the past, female sex assignment was commonly recommended for such patients, raising them in a male gender role is now considered. Parents should be involved in the decision that is ultimately based on extensive analysis of the individual case.     

Quantitative EEG asymmetry correlates with clinical severity in unilateral Sturge-Weber syndrome

PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with vascular malformations of the skin, brain, and eye. SWS results in ischemic brain injury, seizures, and neurologic deficits. We hypothesized that a decrease in quantitative EEG (qEEG) power, on the affected side, correlates with clinical severity in subjects with SWS. METHODS: Fourteen subjects had 16-channel scalp EEG recordings. Data were analyzed using fast Fourier transform and calculation of power asymmetry. Blinded investigators assigned scores for clinical neurological status and qualitative assessment of MRI and EEG asymmetry. RESULTS: The majority of subjects demonstrated lower total power on the affected side, usually involving all four frequency bands (delta, theta, alpha, and beta). qEEG asymmetry correlated strongly with neurologic clinical severity scores and MRI asymmetry scores. qEEG data generally agreed with the MRI evidence of regional brain involvement. In MRI-qEEG comparisons that did not agree, decreased power on qEEG in a brain region not affected on MRI was more likely to occur in subjects with more severe neurologic deficits. CONCLUSIONS: qEEG provides an objective measure of EEG asymmetry that correlates with clinical status and brain asymmetry seen on MRI. These findings support the conclusion that qEEG reflects the degree and extent of brain involvement and dysfunction in SWS. qEEG may potentially be a useful tool for early diagnosis and monitoring of disease progression in SWS. qEEG may prove useful, in severely affected individuals with SWS, for determining regions of brain dysfunction.     

Dynamics of event-related causality in brain electrical activity

A new method (Event-Related Causality, ERC) is proposed for the investigation of functional interactions between brain regions during cognitive processing. ERC estimates the direction, intensity, spectral content, and temporal course of brain activity propagation within a cortical network. ERC is based upon the short-time directed transfer function (SDTF), which is measured in short EEG epochs during multiple trials of a cognitive task, as well as the direct directed transfer function (dDTF), which distinguishes direct interactions between brain regions from indirect interactions via brain regions. ERC uses new statistical methods for comparing estimates of causal interactions during prestimulus "baseline" epochs and during poststimulus "activated" epochs in order to estimate event-related increases and decreases in the functional interactions between cortical network components during cognitive tasks. The utility of the ERC approach is demonstrated through its application to human electrocorticographic recordings (ECoG) of a simple language task. ERC analyses of these ECoG recordings reveal frequency-dependent interactions, particularly in high gamma (>60 Hz) frequencies, between brain regions known to participate in the recorded language task, and the temporal evolution of these interactions is consistent with the putative processing stages of this task. The method may be a useful tool for investigating the dynamics of causal interactions between various brain regions during cognitive task performance.     

Switching between colors and shapes on the basis of positive and negative feedback: an fMRI and EEG study on feedback-based learning

A crucial element of testing hypotheses about rules for behavior is the use of performance feedback. In this study, we used fMRI and EEG to test the role of medial prefrontal cortex (PFC) and dorsolateral (DL) PFC in hypothesis testing using a modified intradimensional/extradimensional rule shift task. Eighteen adults were asked to infer rules about color or shape on the basis of positive and negative feedback in sets of two trials. Half of the trials involved color-to-color or shape-to-shape trials (intradimensional switches; ID) and the other half involved color-to-shape or shape-to-color trials (extradimensional switches; ED). Participants performed the task in separate fMRI and EEG sessions. ED trials were associated with reduced accuracy relative to ID trials. In addition, accuracy was reduced and response latencies increased following negative relative to positive feedback. Negative feedback resulted in increased activation in medial PFC and DLPFC, but more so for ED than ID shifts. Reduced accuracy following negative feedback correlated with increased activation in DLPFC, and increased response latencies following negative feedback correlated with increased activation in medial PFC. Additionally, around 250 msec following negative performance feedback participants showed a feedback-related negative scalp potential, but this potential did not differ between ID and ED shifts. These results indicate that both medial PFC and DLPFC signal the need for performance adjustment, and both regions are sensitive to the increased demands of set shifting in hypothesis testing.     

Wilson's disease presenting with an unusual cough.

A 26-year-old man developed an unusual repetitive, nonproductive cough. Extensive pulmonary and otolaryngology investigations failed to disclose a cause. It was only after he developed additional neurological manifestations ultimately leading to the diagnosis of Wilson's disease (WD) that a neurological basis for the cough was suspected. Features of the cough suggest it was a form of respiratory dyskinesia, a previously unreported presentation of WD.     

Chronic vermal herniation in a case of osteosarcoma of the occipital bone

Upward projection of the cerebellar vermis through the tentorial hiatus is called upward vermal herniation (UVH). UVH is less common in clinical practice than uncal herniation. Even more uncommon is chronic vermal herniation and impaction in the tentorial hiatus. To illustrate this phenomenon, we present the clinical, radiological, and morphological features of vermal impaction in a patient with a postradiation osteosarcoma of the occipital bone. In spite of nearly total excision of the tumor pushing the cerebellum upward, his postoperative course was complicated by respiratory problems and an altered level of consciousness, finally resulting in death. His clinical status paralleled the computed tomographic (CT) demonstration of persistent obliteration of the supramesencephalic cistern. CT makes more reliable the detection and management of UVH, but a high index of suspicion is necessary for prevention of this complication.