The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection.

Aicardi-Goutières syndrome (AGS) is a rare, genetically-determined encephalopathy whose importance from a neonatology perspective is magnified because of the risk of misdiagnosis as the sequelae of congenital infection. Molecular advances have shown that AGS can be caused by mutations in any one of at least five genes (four of which have been identified). A recent genotype-phenotype study has shown that a neonatal form of the disease, highly reminiscent of congenital infection, is seen particularly with TREX1 mutations. It seems likely that the enzymes defective in AGS are involved in digesting endogenous nucleic acids (DNA and RNA) produced during normal cell replication, and that a failure of this removal results in inappropriate triggering of the innate immune system. This hypothesis explains the remarkable phenotypic overlap of AGS with congenital infection, where a similar interferon alpha mediated innate immune response is triggered by viral, as opposed to self, nucleic acids.

Epileptological emergencies in accident and emergency: a survey at St James's university hospital, Leeds.

Many patients attending an Accident and Emergency (A&E) department with seizures never come into contact with a neurological service. This survey was designed to find out how many patients with epileptological emergencies come to A&E and how they are managed. Cases were identified using the computerized A&E database. The A&E records of all adult patients attending the casualty department at St James's University Hospital with emergencies related to epilepsy between 1 April and 30 September 1998 were reviewed retrospectively. Out of a total of 36 024 adults attending A&E, 190 were related to epileptological emergencies. A problem relating to a previously recognized seizure disorder was the commonest reason for attendance. Patient management was highly variable and often suboptimal. Descriptions of seizure semiology and examination findings were frequently deficient. Up to 37.5 mg of diazepam, in up to five boluses, was given. Twenty per cent of patients with a diagnosis of status epilepticus were discharged home after diazepam treatment. Neurologists only became involved in 24.2% of cases. Epileptological emergencies only make up a small proportion of cases seen in adult A&E departments. Treatment and referral guidelines should be agreed between A&E staff and neurologists. The communication between general, specialist and acute services needs to be improved.

Bilateral giant adrenal myelolipomas.

Adrenal myelolipomas are rare benign tumors that comprise mature adipose cells and hematopoietic elements. They are usually found incidentally at autopsy and on imaging. Most cases are isolated and small. Although they are not hormonally active, there is very rarely an association with functional adrenal disorders such as Cushing syndrome and congenital adrenal hyperplasia. It is believed that in these patients high corticotropin levels contribute to the pathogenesis of these neoplasms. We report the imaging appearances of bilateral giant adrenal myelolipomas in a patient known to have congenital adrenal hyperplasia. To our knowledge, these are the largest bilateral adrenal myelolipomas reported in association with congenital adrenal hyperplasia. A distinct change in their appearances after a period of steroid treatment is described for the first time.