Cocaine-induced toxic leucoencephalopathy with complete clinical recovery.

A 45-year-old man, a regular cocaine user, presented with confusion and unusual behaviour to the emergency room. On examination he was unable to perform simple tasks or follow commands. He was treated for possible central nervous system infection. MRI of the brain showed multiple bilateral T2 hyperintense periventricular and deep white matter foci, best appreciated on FLAIR with contrast enhancement. He continued deteriorating, eventually becoming catatonic with extensor posturing and increased tone, requiring intensive therapy unit management. Repeat MRIs were also noted to show worsening changes. He was treated for a presumed inflammatory leucoencephalopathy with intravenous methylprednisolone, immunoglobulins, as well as plasmapheresis. After 2 weeks, the patient started to show clinical improvement with eventual transfer to a rehabilitation hospital. A year after his first presentation, the patient scored 30 out of 30 on the MMSE and his neurological examination was normal.

Anti-HMGCR antibody-associated necrotising myopathy and its association with statin use.

A 66-year-old man presented with chest pain and a 1-year history of generalised weakness, accompanied with generalised aches and pains. Symptoms worsened when he was initiated on statins. Investigations yielded high creatine kinase, high HMG-coenzymeA reductase (HMGCR) antibody titre, myopathic features on electromyography and muscle biopsy, and muscle atrophy on MRI. These results were in keeping with anti-HMGCR antibody myopathy. The patient responded well to immunosuppressive therapy.

An Introduction to Epigenetics.

Epigenetics refers to the heritable information that is exclusive of DNA. Several syndromes have been found to occur as the result of the process of epigenetics. This process causes changes in the expression of genes, without changing the actual DNA sequence. The factors influencing this process include both internal and external triggers, leading to modulation of the epigenome through different mechanisms. This article aims to describe how the process of epigenetics gives rise to the multitude of possible syndromes seen in neonates. The article will also discuss the role of assisted reproductive technology may play in epigenetic changes when compared with the naturally conceived embryo.

Prader-Willi Syndrome: Background and Management.

The imprinting disorder, Prader-Willi syndrome, is a condition associated with the gene region 15q11.2-q.13. The phenotype includes multiple characteristics, most of which are endocrine-related. An accurate diagnosis is done mostly through pre- or postnatal genetic testing. Management is mainly aimed at correcting the endocrine dysfunctions present in these patients. Genetic testing is also important to distinguish between the different causes and to calculate the recurrence risk for parents with affected children. Although a lot has been discovered and this syndrome can be managed to a satisfactory degree, further research is still important especially regarding new potential treatments with greater efficiency and reduced invasiveness. The neonatal nurse has an important role because the management requires thorough monitoring as well as high compliance from both the patient and the carers. Thus, it is essential for the neonatal nurse to have a good knowledge of this condition.