[Reviews] Neurological complications of coeliac disease: what is the evidence? Comments Off
Coeliac disease is a chronic immune-mediated disorder that primarily affects the gastrointestinal tract. There is an inflammatory response in the intestine to the ingestion of gluten which improves with a gluten-free diet. Many patients, especially adults, may be asymptomatic or have only extraintestinal symptoms at onset without any of the classical coeliac symptoms. In the last two decades there have been increasing numbers of reports describing neurological complications of coeliac disease, especially ataxia, peripheral neuropathy and epilepsy. This literature has become quite controversial, with disputes over the definition of coeliac disease and gluten sensitivity, whether neurological complications are caused by coeliac disease or are epiphenomena, and whether the proposed complications respond to a gluten-free diet. This review uses an evidence-based approach to critically assess this literature and provides guidelines for the evaluation and management of these patients.
[Reviews] Myelopathy but normal MRI: where next? Comments Off
For most patients presenting with a spinal cord syndrome MR scanning has become the key investigation in establishing the diagnosis. However, myelopathy with normal spinal imaging remains a common clinical conundrum. In this review we discuss the diagnoses to consider for the neurologist presented with a patient with "MR normal myelopathy". We will illustrate this scenario with a series of short cases and consider the further investigation of "MRI normal" myelopathy.
[What to do] When the patient fails to respond to treatment: TIAs that go on, and on Comments Off
Most transient ischaemic attacks (TIAs) stop, with or without treatment, but some are followed by stroke within days or longer. But if the TIAs do not stop then the diagnosis must be reviewed (are they really TIAs or could they be migraine or epilepsy?), and if they are TIAs, what are they caused by (atherothromboembolism, embolism from the heart, etc)? With this information, both the medical and any surgical treatment can be optimised, even though one must accept that the randomised controlled trials mostly have not addressed the particular issue of continuing TIAs.
[A difficult case] Fatal subacute necrotising brainstem encephalitis in a young man due to a rare parasitic (Balamuthia) infection Comments Off
We describe a case of brainstem inflammation in a young man which at first defied diagnosis. However, after his death, and notwithstanding our inability to find a cause at autopsy, we did not give up. After sending paraffin blocks to the Centers for Disease Control in Atlanta, Georgia, USA, they suggested the diagnosis of Balamuthia (amoebic) infection.
[Neurological rarity] Leber’s hereditary optic neuropathy associated with multiple sclerosis: Harding’s syndrome Comments Off
We describe a 32-year-old woman with sequential, severe, painless visual loss in one eye and then the other, and three temporally distinct episodes of neurological disturbance suggestive of demyelination in the spinal cord. She was positive for the T14484C mutation in the mitochondrial genome, one of three common mutations causing Leber’s hereditary optic neuropathy. In addition, MRI identified areas of demyelination within the periventricular white matter of the brain and within the spinal cord. The coexistence of multiple sclerosis and Leber’s hereditary optic neuropathy (Harding’s syndrome) is known to occur more often than would be expected by chance; therefore, screening for the Leber’s mutations in multiple sclerosis patients with severe visual loss should be considered because this has important prognostic and genetic implications.