Sheehan syndrome associated with raised intracranial pressure.

UNLABELLED: Intracranial hypertension (IH) has been associated with hypocortisolism caused by either primary adrenocortical insufficiency or corticosteroid withdrawal. METHOD: The authors describe a case of IH in association with Sheehan syndrome (SS) in a postpartum 29-year-old woman. RESULTS: The clinical manifestations of IH resolved with corticosteroid replacement. CONCLUSIONS: This case supports a causal role of hypocortisolism in IH. The authors are unaware of previous reports of hypocortisolism caused by SS leading to IH.

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare autosomal recessive disorder of nucleoside metabolism that is caused by mutations in the nuclear thymidine phosphorylase gene (TYMP) gene, encoding for the enzyme thymidine phosphorylase. There are currently no approved treatments for MNGIE. The aim of this study was to investigate the safety, tolerability, and efficacy of an enzyme replacement therapy for the treatment of MNGIE. In this single centre study, three adult patients with MNGIE received intravenous escalating doses of erythrocyte encapsulated thymidine phosphorylase (EE-TP; dose range: 4 to 108 U/kg/4 weeks). EE-TP was well tolerated and reductions in the disease-associated plasma metabolites, thymidine, and deoxyuridine were observed in all three patients. Clinical improvements, including weight gain and improved disease scores, were observed in two patients, suggesting that EE-TP is able to reverse some aspects of the disease pathology. Transient, non-serious adverse events were observed in two of the three patients; these did not lead to therapy discontinuation and they were managed with pre-medication prior to infusion of EE-TP. To conclude, enzyme replacement therapy with EE-TP demonstrated biochemical and clinical therapeutic efficacy with an acceptable clinical safety profile.

Centromedian thalamic nuclei deep brain stimulation in refractory status epilepticus.

BACKGROUND: Refractory status epilepticus (RSE) is associated with high mortality. We report a potential treatment alternative. HYPOTHESIS: Deep brain stimulation (DBS) of the centromedian thalamic nuclei (CMN) can be effective in the treatment of RSE. METHODS: Report of the evolution of RSE after DBS of the CMN in a 27-year-old man. RESULTS: In the course of an encephalopathy of unknown origin, and after a cardiac arrest, the patient developed RSE with myoclonic jerks and generalized tonic-clonic seizures. The EEG showed continuous generalized periodic epileptiform discharges (GPEDS). Five weeks after RSE onset, bilateral DBS of the CMN was started. This treatment was immediately followed by disappearance of tonic-clonic seizures and GPEDS, suggesting a resolution of RSE. The patient continued having multifocal myoclonic jerks, probably subcortical in origin, which resolved after 4 weeks. The patient remained clinically stable for 2 months in a persistent vegetative state. CONCLUSIONS: The remission of RSE, the abolition of GPEDS, and the patient survival suggest that DBS of the CMN may be efficacious in the treatment of refractory, generalized status epilepticus.

Subcortical dementia.

BACKGROUND: Drawing a distinction between cortical and subcortical dementias seems both useful and justified. Recent research has, however, cast doubt on the clinical, neuropsychological, neuroimaging and neuroanatomical basis of the distinction. AIMS: To arrive at a reasoned conclusion about the relationship between the two types of dementia and the validity of distinguishing between them. METHOD: The historical and recent clinical and scientific literature on subcortical dementia was reviewed. RESULTS: The traditional claim that subcortical dementia has distinct clinical manifestations, neuroimaging findings and a neuropathological profile is not altogether borne out by the literature. Some studies show that frontal executive dysfunction and the profile of memory deficits are not significantly different from those seen in Alzheimer's disease. Neuropathological findings also overlap. CONCLUSIONS: The category of subcortical dementia may be clinically useful in highlighting the likelihood that an individual with dementia is more likely to suffer from bradyphrenia and motor difficulties. As neuroscience advances a preoccupation with the distinction may hinder the assessment and treatment of individual cases.