No abstract

Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin. The condition is characterized by epilepsy, myoclonus and dementia. Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies.

Investment in neurology services would facilitate early accurate diagnosis, efficient patient and bed management, with substantial savings.

SummarySpontaneous intracranial hypotension (SIH) is an uncommon condition characterised by postural headache secondary to low cerebrospinal fluid pressure. Here we present a case of recurrence of SIH in early pregnancy in a 26-year-old woman. She first presented at the age of 21 years at 15 weeks' gestation with a history of headache, nausea, vomiting, neck stiffness and photophobia. Findings from a MRI brain scan led to a diagnosis of SIH. She was treated with autologous epidural blood patching and remained asymptomatic until her second pregnancy 5 years later, when she re-presented at 16 weeks' gestation with similar symptoms. She was again diagnosed with SIH and required a repeat treatment of autologous epidural blood patching. She subsequently remained symptom free and delivered a healthy boy at term. BACKGROUND

Abstract:Cerebral venous sinus thrombosis (CVST) is uncommon. Risk factors include inherited and acquired factors. Rapid diagnosis and treatment is essential and can help prevent complications, which can include seizures and visual disturbance.

We select the letters for these pages from the rapid responses posted on bmj.com favouring those received within five days of publication of the article to which they refer. Letters are thus an early selection of rapid responses on a particular topic. Readers should consult the website for the full list of responses and any authors' replies, which usually arrive after our selection. professors pm moTTA And fm mAGLIoCCA/spL

No abstract