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Hyperexcitable brain and refractory coeliac disease: a new syndrome.
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J Neurol Neurosurg Psychiatry 2013 Nov; 84(11):e2
Authors: Marios Hadjivassiliou, Jayne Fotheringham, David Sanders, Richard Grunewald, Nigel Hoggard, Ptolemy Sarrigiannis
Royal Hallamshire Hospital.
Hyperexcitable brain and refractory coeliac disease: a new syndrome Gluten related disorders (GRD) is the newly proposed term to encompass a spectrum of immune mediated diseases triggered by gluten ingestion. Whilst coeliac disease (gluten sensitive enteropathy) remains one of the best characterised GRD, neurological dysfunction is one of the commonest extraintestinal manifestations with a range of presentations such as cerebellar ataxia, neuropathy, sensory ganglionopathy and encephalopathy (headaches and white matter abnormalities). Neurological manifestations can occur with or without enteropathy. The entity of progressive myoclonic ataxia and celiac disease was first reported in 1984 with occasional case reports published since. We present here the clinical and detail electrophysiological features of the largest series of 7 patients and further characterise and hence rename the syndrome as progressive cortical hyperexcitability with ataxia and refractory coeliac disease. The 7 patients (5 male, 2 female) were identified from a cohort of 540 patients with neurological manifestations of GRD that regularly attend our gluten/neurology clinic. The mean age at onset of the neurological symptoms was 58 years (range 46 to 76). Unlike myoclonic ataxia (eg in the context of opsoclonus myoclonus ataxia syndrome) the myoclonic tremor in these patients was initially focal (face, tongue one arm and/or one leg) but then spread to affect other parts of the body. Epilepsy was a feature in 5 of the patients, 3 of which gave a history of Jacksonian march before progression to generalised seizures. In one patient the neurological presentation was with status epilepticus. All patients had a mild degree of limb ataxia and more prominent gait ataxia. Electrophysiology showed evidence of cortical myoclonus. Four had a phenotype of epilepsia partialis continua and three later developed more widespread jerking. There was clinical, imaging and/or pathological evidence of cerebellar involvement in all cases but this was not the main source of disability by contrast to patients with gluten ataxia, where cerebellar ataxia is the most disabling feature. All patients adhered to a strict gluten-free diet with elimination of gluten-related antibodies, despite which there was still evidence of enteropathy in keeping with refractory celiac disease (type 1 in 5 and type 2 in 2). One of the 2 patients with type 2 refractory enteropathy died 13 years later from metastatic enteropathy-associated lymphoma. The other died 1 year after the neurological presentation from presumed enteropathy associated lymphoma. Four were treated with mycophenolate and one in addition with rituximab and IV immunoglobulins. Whilst their ataxia improved the myoclonus remained the most disabling feature of their illness with a tendency to spread and affect other parts of the body. This syndrome whilst rare, appears to be the commonest neurological manifestation of refractory CD. The clinical manifestations extend from focal reflex jerks to epilepsia partialis continua, covering the whole clinical spectrum of cortical myoclonus. This entity is possibly under-diagnosed and difficult to treat.
PMID: 24109082 [PubMed - as supplied by publisher]