Marianthi Arnaoutoglou

Neurological complications of beta-thalassemia

The thalassemias are the most common single gene disorder in the world. Over the last years, several reports have demonstrated neurological complications in beta-thalassemia patients. In most cases, these complications remained subclinical and were detected only during neuropsychological, neurophysiological, or neuroimaging evaluation. Cognitive impairment, abnormal findings on evoked potentials, complications due to extramedullary hematopoiesis, cerebrovascular disease, and peripheral neuropathy comprise the broad spectrum of neurological involvement. Chronic hypoxia, iron overload, desferrioxamine neurotoxicity, and bone marrow expansion are implicated, but sufficient explanatory evidence is lacking and development of biomarkers is needed. This review summarizes current knowledge of the neurological complications. As life expectancy for beta-thalassemia patients increases, we support the use of neurophysiological, neuropsychological, or neuroimaging monitoring, enabling the evaluation of neural pathway impairment, to achieve appropriate management and as a result a better quality of life for this patient group.

Simultaneous occurrence of cerebellar medulloblastoma and pituitary adenoma: A case report

PurposeWe present the unusual occurrence of two distinct neoplasms in a 42-year-old woman with an operated pituitary adenoma 18 years ago.MethodsClinical history, magnetic resonance imaging studies and histopathological findings were utilized for our diagnostic considerations.ResultsConcomitant presence of a cerebellar medulloblastoma secondary disseminated within the spinal canal and a pituitary macroadenoma, was identified.ConclusionTo the best of our knowledge, this is the first reported case in which these two neoplasms are simultaneously occurred in the same individual. A short review of the literature is performed.

Polyneuropathy and myopathy in beta-thalassemia major patients

The thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major (β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease. Patients with β-thal present polyneuropathy or myopathy at (50%). Polyneuropathy was detected in (38.9%) and myopathy in (27.8%), while polyneuropathy and myopathy were present at (16.7%) with an overlap of the diseases in 1/3 of the patients. There was not a statistically significant correlation of polyneuropathy and myopathy with age, sex, splenectomy, nor with respect to laboratory parameters, hemoglobin, and ferritin. However, there was a statistically significant correlation of polyneuropathy and myopathy with iron overload, as recorded by the magnetic resonance imaging (MRI) of the heart and the liver. Our findings suggest that iron overload plays a key role in the pathogenesis of polyneuropathy and myopathy in β-thal patients, and performing heart and liver MRI for the prediction of such lesions in an annual basis is warranted.

High Levels of Anti-Ganglioside Antibodies in Patients with Parkinson's Disease Associated with Cognitive Decline

Background: Increasing evidence suggests that gangliosides act as important mediators in both demyelination and remyelination. Objective: The purpose of the present study was to investigate the presence of IgM antibodies against GM1, GD1b and GQ1b gangliosides in the sera of in patients who suffered from Parkinson’s disease in correlation with the clinical parameters. Method: The present research is based on the investigation of 44 patients (63.7-73.3 years) for anti-ganglioside antibodies and 44 healthy age- matched individuals, as normal controls, using Enzyme-Linked Immuno-Sorbent Assays. Results: The patients revealed increased levels of the tested antibodies, compared to normal controls (p=0.0005). A correlation between IgM anti-GM1 and the level of cognitive impairment (Minimental State Examination, p=0.003; Unified Parkinson’s Disease Rating Scale I, p=0.013) was also noticed. Conclusion: A peripheral neuroimmune response may occur in patients who suffer from Parkinson’s disease especially those with cognitive impairment. Further investigation is needed to establish a direct connection between that immune response and disease pathophysiology.

Autoimmune recurrent facial palsy and bilateral sudden sensorineural hearing loss following Ramsay Hunt-like syndrome

OBJECTIVE To describe the first published case of recurrent facial nerve palsy associated with bilateral sudden sensorineural hearing loss of autoimmune origin. CASE REPORT A 33-year-old male presented with acute facial palsy on the left following a vesicular herpetic eruption in the external ear canal on the same side. Serologic measurements demonstrated an elevation of IgM antibodies against herpes simplex virus but not for varicella-zoster virus, confirming a Ramsay Hunt-like syndrome due to herpes simplex virus. The following four months, the patient exhibited other three episodes of facial palsy, well responded to steroid treatment. During the clinical course, a sudden sensorineural hearing loss was also diagnosed, initially on the left side and then on both sides. The autoimmune markers such as the antinuclear antibody and the anti-gangliosides antibodies (anti-GM1, anti-GQ1b) were found positive. Despite steroid treatment, hearing did not show any improvement, remaining moderate on the right and severe on the left. CONCLUSION Recurrent facial nerve palsy and bilateral sudden sensorineural hearing loss could be the expression of autoimmune disturbances. The initial triggered factor could be the herpes simplex virus infection, such as a Ramsay Hunt-like syndrome.

Hashimoto encephalopathy: a case report of a mixed type

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