Stephen Wharton

Myopathy associated with gluten sensitivity

Ataxia and peripheral neuropathy are the most common neurological manifestations of gluten sensitivity. Myopathy is a less common and poorly characterized additional neurological manifestation of gluten sensitivity. We present our experience with 13 patients who presented with symptoms and signs suggestive of a myopathy and in whom investigation led to the diagnosis of gluten sensitivity. Three of these patients had a neuropathy with or without ataxia in addition to the myopathy. The mean age at onset of the myopathic symptoms was 54 years. Ten patients had neurophysiological evidence of myopathy. Inflammatory myopathy was the most common finding on neuropathological examination. One patient had basophilic rimmed vacuoles suggestive of inclusion‐body myositis. Six patients received immunosuppressive treatment in addition to starting on a gluten‐free diet; five improved and one remained unchanged. Among seven patients not on immunosuppressive treatment, four showed clinical improvement of the myopathy with a gluten‐free diet. The improvement was also associated with reduction or normalization of serum creatine kinase level. The myopathy progressed in one patient who refused the gluten‐free diet. Myopathy may be another manifestation of gluten sensitivity and is likely to have an immune‐mediated pathogenesis. A gluten‐free diet may be a useful therapeutic intervention. Muscle Nerve, 2006

Sensory ganglionopathy due to gluten sensitivity

Objectives: Gluten sensitivity can engender neurologic dysfunction, one of the two commonest presentations being peripheral neuropathy. The commonest type of neuropathy seen in the context of gluten sensitivity is sensorimotor axonal. We report 17 patients with sensory ganglionopathy associated with gluten sensitivity. Methods: This is a retrospective observational case series of 17 patients with sensory ganglionopathy and gluten sensitivity. All patients had been followed up for a number of years in dedicated gluten sensitivity/neurology and neuropathy clinics. Results: Out of a total of 409 patients with different types of peripheral neuropathies, 53 (13%) had clinical and neurophysiologic evidence of sensory ganglionopathy. Out of these 53 patients, 17 (32%) had serologic evidence of gluten sensitivity. The mean age of those with gluten sensitivity was 67 years and the mean age at onset was 58 years. Seven of those with serologic evidence of gluten sensitivity had enteropathy on biopsy. Fifteen patients went on a gluten-free diet, resulting in stabilization of the neuropathy in 11. The remaining 4 had poor adherence to the diet and progressed, as did the 2 patients who did not opt for dietary treatment. Autopsy tissue from 3 patients demonstrated inflammation in the dorsal root ganglia with degeneration of the posterior columns of the spinal cord. Conclusions: Sensory ganglionopathy can be a manifestation of gluten sensitivity and may respond to a strict gluten-free diet.

Extra-cranial metastasis of glioblastoma multiforme presenting as acute parotitis

We present an unusual case of extracranial metastasis of glioblastoma multiforme (GBM) to the parotid gland and cervical lymph nodes. The patient had previously undergone two craniotomies to debulk a left frontal GBM, followed by radiotherapy. After the second craniotomy, while waiting for chemotherapy, the patient was re-admitted with a short history of a painful swelling of his left parotid gland. The initial diagnosis was infective parotitis; however, as there was no improvement with broad-spectrum antibiotics, CT was undertaken, which revealed a mass in the parotid gland with a necrotic centre and enlarged cervical lymph nodes. Parotid gland biopsy revealed a parotid GBM metastasis. This case illustrates how GBM behaves in an aggressive manner even outside the CNS. A brief review of the literature and of the theories, which might explain the extra-neural metastasis of this tumour is also presented.

Cytopathology of the motor neuron

Publisher Summary This chapter describes the pathology of motor neuron diseases at the anatomical level, including skeletal muscle changes, and at the level of the clinical and molecular cytopathology of central nervous system (CNS) changes. The structural and molecular changes in skeletal muscle that occur in anterior horn cell disorders are those consequent upon denervation, of variable chronicity, with a variable component due to reinnervation. Such changes have been characterized morphologically and comprise the immediate substrate for progressive weakness and atrophy in these disorders and are assessed by clinical examination and electrophysiology to assist diagnosis. The chapter describes the anatomical and molecular pathologies associated with anterior horn cell degeneration in disorders that are predominantly expressed as a clinical syndrome in which amyotrophy is a key feature.

Chapter 2 Pathology of Motor Neuron Disorders

Publisher Summary This chapter discusses the disorders––characterized by pathologies––that primarily affect the motor system within the central nervous system (CNS). For this purpose, it defines the motor system to include the following: cortical projection neurons of the motor and premotor cortex, especially the classic upper motor neuron (UMN) Betz cell population; their axons throughout the hemispheric white matter, internal capsule, pyramids, and ventrolateral spinal tracts; and the lower motor neuron (LMN) pools of the brain stem motor nuclei and the spinal anterior horn. The pathology of these disorders varies anatomically, both in the components of the motor system affected and in their cellular and molecular pathology. This pathological variation is a likely reflection of the variable mechanisms through which the motor system can be selectively damaged. In some cases—for example, those resulting from inherited genetic defects—the etiology is known and an understanding of gene function or the consequences of abnormal gene products is revealing mechanisms linked to cell injury and cell death and illuminating the selective distribution of degeneration. For example, in the case of amyotrophic lateral sclerosis (ALS), the similarity of pathology between familial and sporadic disease is beginning to cast light on the pathogenesis of the more common sporadic form.

Intracerebral Masson's Tumor—Slow-Filling Vascular Lesion Demonstrated by Indocyanine Green Video Angiography

BACKGROUND Intravascular papillary endothelial hyperplasia, or Massons tumors, are benign vascular lesions that are rarely seen intracranially. The vascular characteristics of these lesions are also unknown. CASE DESCRIPTION We report the case of a 24-year-old male patient with a 3-year history of headache and dizziness. Neuroradiologic imaging showed a slow-growing lesion consistent with a low-grade glioma. Intraoperative appearance was of a vascular lesion that was slow filling as demonstrated with indocyanine green video angiography. Histologic analysis following resection revealed intravascular papillary endothelial hyperplasia (Massons tumor). CONCLUSION Massons tumors are slow-filling vascular lesions. The preoperative diagnosis of this lesion is difficult as it can mimic a neoplastic lesion. Conservative and surgical treatment options should therefore be carefully considered. Patients with subtotal resection must undergo long-term follow-up surveillance imaging as recurrence is a possibility.

A wolf in sheep's clothing

A 77-year-old woman gave a 10-day history of pain and weakness in her arms and legs, worsening over 12 h. Her muscle aching in the neck, shoulders, back and limbs progressed over the next 48 h; her limbs weakened, and she became unable to walk. She reported intermittent abdominal pain, and had recently lost 12 kg of weight. She had no joint pain or swelling, headache, fever, breathlessness, visual disturbance, bladder or bowel dysfunction. She had travelled to Turkey 3 months before, but was well while away with no insect bites. She had a history of biopsy-proven nodular prurigo and a vestibular schwannoma under observation since 2013. Before admission, she had been very active and took no medications. She was a carer for her husband, and drove her grandchildren to school. There was no relevant family history. On examination, she was in severe pain. The proximal limb muscles were tender to palpation. Tone was normal. There was symmetrical proximal weakness in all four limbs with a give-way component. Reflexes were present, and plantars were flexor. Coordination and sensation were normal. She had a soft systolic murmur, but respiratory and abdominal examinations were normal. She had several skin lesions on her arm, previously diagnosed as nodular prurigo. The joints were normal. Investigations included an erythrocyte sedimentation rate of 35 mm/1st h (<30). White cell count was elevated at 17.1×109/L (4.0–11.0) with neutrophilia. Her eosinophilia (1.67×109/L (0.04–0.40)) was first noted 6 months before, initially at 0.76×109/L, rising over the ensuing months. Serum C reactive protein was raised at 113.2 mg/L (<10) from normal 6 months before. Liver function was abnormal with elevated serum alkaline phosphatase (301 units/litre (U/L) (45–105)), gamma-glutamyl transferase (341 U/L (4–35)), alanine aminotransferase (133 U/L (5–35)), but normal aspartate aminotransferase and bilirubin. Rheumatoid factor was initially raised at 173 IU/ml (<30), but later fell to …