Annalisa Chiari

Epilepsy in primary cerebral tumors: The characteristics of epilepsy at the onset (results from the PERNO study-Project of Emilia Romagna Region on Neuro-Oncology)

To present new information on the semiology and short‐term evolution of seizures associated with primary brain tumors (PBTs) in a prospective study.

Claustrum damage and refractory status epilepticus following febrile illness

Objective: To characterize the clinical, EEG, and brain imaging findings in an adult case series of patients with de novo refractory status epilepticus (SE) occurring after a febrile illness. Methods: A retrospective study (2010–2013) was undertaken with the following inclusion criteria: (1) previously healthy adults with refractory SE; (2) seizure onset 0–21 days after a febrile illness; (3) lacking evidence of infectious agents in CSF; (4) no history of seizures (febrile or afebrile) or previous or concomitant neurologic disorder. Results: Among 155 refractory SE cases observed in the study period, 6 patients (17–35 years old) fulfilled the inclusion criteria. Confusion and stupor were the most common symptoms at disease onset, followed after a few days by acute repeated seizures that were uncountable in all but one. Seizures consisted of focal motor/myoclonic phenomena with subsequent generalization. Antiepileptic drugs failed in every patient to control seizures, with all participants requiring intensive care unit admission. Barbiturate coma with burst-suppression pattern was applied in 4 out of 6 patients for 5–14 days. One participant died in the acute phase. In each patient, we observed a reversible bilateral claustrum MRI hyperintensity on T2-weighted sequences, without restricted diffusion, time-related with SE. All patients had negative multiple neural antibodies testing. Four out of 5 surviving patients developed chronic epilepsy. Conclusions: This is a hypothesis-generating study of a preliminary nature supporting the role of the claustrum in postfebrile de novo SE; future prospective studies are needed to delineate the specificity of this condition, its pathogenesis, and the etiology.

Role of cerebrospinal fluid biomarkers to predict conversion to dementia in patients with mild cognitive impairment: a clinical cohort study.

Abstract Background: Cerebrospinal fluid (CSF) levels assessment of Aβ1-42 and Tau proteins may be accurate diagnostic biomarkers for the differentiation of preclinical Alzheimer’s disease (AD) from age-associated memory impairment, depression and other forms of dementia in patients with mild cognitive impairment (MCI). The aim of our study was to explore the utility of CSF biomarkers in combination with common cognitive markers as predictors for the risk of AD development, and other forms of dementia, and the time to conversion in community patients with MCI. Methods: A group of 71 MCI patients underwent neurological assessment, extended neuropsychological evaluation, routine blood tests, ApoE determination, and lumbar puncture to dose t-tau, p-tau181, Aβ1-42. We investigated baseline CSF and neuropsychological biomarker patterns according to groups stratified with later diagnoses of AD conversion (MCI-AD), other dementia (MCI-NAD) conversion, or clinical stability (sMCI). Results: Baseline Aβ1-42 CSF levels were significantly lower in MCI-AD patients compared to both sMCI and MCI-NAD. Additionally, p-tau181 was higher in the MCI-AD group compared to sMCI. The MCI-AD subgroup analysis confirmed the role of Aβ1-42 in its predictive role of time to conversion: rapid converters had lower Aβ1-42 levels compared to slow converters. Logistic regression and survival analysis further supported the key predictive role of baseline Aβ1-42 for incipient AD and dementia-free survival. Conclusions: Our results confirm the key role of CSF biomarkers in predicting patient conversion from MCI to dementia. The study suggests that CSF biomarkers may also be reliable in a real world clinical setting.

Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies.

Abstract We describe the rare case of a young woman with hereditary neuropathy with liability to compression palsy (HNPP), who developed a rapidly progressive ALS. We suggest that underexpression of PMP22 protein in the nervous system might interfere with motor neuron function by impairing myelin formation and exposure of the axon to injury. Patients with ALS and evidence of demyelination should be screened for HNPP.

Isolated paroxysmal dysarthria caused by a single demyelinating midbrain lesion.

Paroxysmal dysarthria is an unusual condition characterised by brief episodes of dysarthria with the sudden onset and frequent recurrence. It has been mainly reported in multiple sclerosis and an association with midbrain lesions has been claimed; however, most of the reported patients had multiple brain alterations so it was difficult to associate this symptom with a specific lesion site. We illustrate the cases of two patients with an isolated demyelinating midbrain lesion presenting paroxysmal dysarthria as the only symptom; both participants had oligoclonal bands in the cerebrospinal fluid and an unremarkable follow-up. Both patients had benefit from carbamazepine treatment, similarly to previously reported cases. Our report confirms that a demyelinating midbrain lesion is sufficient to provoke paroxysmal dysarthria. It is noteworthy that an erroneous diagnosis of psychogenic disorders was initially made in both cases, highlighting the importance not to underestimate isolated paroxysmal symptoms in clinical practice.

Internal Carotid Artery Dissection: A Rare Cause of Peripheral Facial Nerve Palsy

After neck trauma, a healthy 42-year-old man developed frontotemporal pain, right facial palsy and Horner’s syndrome ( fig. 1 ). MR angiography revealed right ICA dissection involving the extra-intracranial passage ( fig. 2 ), suggesting an anatomically variant facial nerve supply from this vessel [1] . Following anticoagulation, partial ICA recanalization occurred with clinical improvement. Received: March 21, 2012 Accepted: April 9, 2012 Published online: June 27, 2012

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course

Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression. Muscle Nerve, 2010

Central pontine myelinolysis and poorly controlled diabetes: MRI’s hints for pathogenesis

Dear Sir, Central pontine myelinolysis (CPM) is usually associatedwith a rapid correction of hyponatremia [1, 2]. In a patient with chronic hyponatremia, oligodendrocytes in the pons decrease their inner osmolarity to protect them from swelling. Thereafter, any rapid osmotic shift in the opposite direction caused by the hypertonic fluid can induce the swollen cells to shrink, leading to osmotic demyelination [1, 2]. Typical MRI features in CPM are characterized by cytotoxic edema (DWI hyperintensity and ADC hypointensity) consistent with shrinkage of the pontine cells [3]. We describe a case of CPM due to poorly controlled diabetes with brain MRI features compatible with vasogenic edema (DWI and ADC hyperintensity) that may suggest an extracellular space expansion rather than shrinkage of the pontine cells [4]. A 27-year-old man with poorly controlled type 1 diabetes mellitus presented with right leg weakness since 3 days. He had been diagnosed with type 1 diabetes mellitus when he was 19 years old. His therapy adherence was erratic with repeated episodes of diabetic ketoacidosis and hypoglycemic coma. There was no history of alcohol abuse. He was polyuric and he had been vomiting for 1 hour. Neurological examination at admission revealed mild paresis in his right lower limb, bilateral intention tremor at the heel/ankle test and ataxic gait. Blood tests at admission were consistent with poorly controlled diabetes, showing high levels of serum glucose (9.22 mmol/L) and of glycated hemoglobin (hemoglobin A1c 119 mmol/mol); serum electrolytes were within the normal ranges. Brain MRI (Fig. 1) demonstrated a hyperintense region in FLAIR and T2-weighted images in the central portion of the rostral pons with a bilaterally symmetric pattern consistent with CPM. Axial diffusion-weighted magnetic imaging (DWI) and axial apparent diffusion coefficient (ADC) map revealed the same hyperintense signal abnormalities. These f indings were consis tent with vasogenic edema. Hyperglycemia was adjusted over 24 h with no change in serum electrolyte concentration. During 2 weeks of hospital stay, his blood glucose fluctuated widely with severe hyperand hypoglycemia at preprandial measurements (from 2.20 to 32.78 mmol/L); therefore, the patient underwent implantation of a subcutaneous insulin pump. Brain MRI performed 2 and 4 months after the discharge showed the persistence of the hyperintense alterations in FLAIR and T2-weighted images with the disappearance of the hyperintense signal abnormalities seen in the axial DWI sequences (Fig. 2). It is unusual for CMP to develop in the absence of significant changes in the serum sodium concentration. On the one hand, CMP is usually associated with a rapid correction of severe hyponatremia which typically occurs in malnourished or alcoholic patients, after prolonged use of diuretic drugs, after liver transplantation, and also in the setting of lymphoma and leukemia [1, 2, 5, 6]. In a previous case series, hypernatremia, hyperglycemia, and hyperazotemia, alone or combined, accounted for the hyperosmolality which is supposed to drive the pathogenesis of CPM [2, 7]. On the other hand, an acute onset of a low * Antonio Fasano antonio.fasano89@gmail.com

Acute hemichorea as unusual first multiple sclerosis presentation

Patient 1 was a 39-year-old woman with an unremarkable medical history who developed acute involuntary right arm and leg movements. Neurologic examination revealed moderate dysarthria and subcontinuous, choreic movements in her right limbs, prevailing in the arm, which worsened during postural tasks. She occasionally had ballistic movements in her right limbs and abnormal dystonic postures. Continuous peribuccal and tongue involuntary movements were noted. Moreover, bilateral upper limb ataxia, gait and trunk ataxia, and brisk right tendon reflexes were found. There was no strength or sensory loss (video 1 at [Neurology.org/cp][1]). Brain MRI revealed a tumefactive, T2/fluid-attenuated inversion recovery (FLAIR) hyperintense, T1 hypointense contrast-enhancing demyelinating lesion in the left cerebral peduncle, extending to the substantia nigra and subthalamic nucleus (STN) (figure, A–C). Multiple hyperintense T2/FLAIR, T1 hypointense, non-contrast-enhancing demyelinating lesions in the hemispheric and periventricular deep white matter, brainstem, and cerebellar hemispheres were also found. All serologic tests were within normal limits. Isoelectric focusing (IEF) revealed 9 CSF oligoclonal bands (OCBs). A diagnosis of multiple sclerosis (MS) was made and the patient was treated with high-dose methylprednisolone with improvement of symptoms. [1]: http://cp.neurology.org/lookup/doi/10.1212/CPJ.0000000000000279

Optic Nerve Involvement in Retinal Migraine

Retinal migraine is a rare entity characterized by headache associated with transient monocular visual disturbances. While fully reversible monocular phenomena and normal ophthalmological examination between the attacks are the hallmark of retinal migraine according to International Headache Society (IHS) classification, 1 an association with persistent monocular visual loss and abnormal ophthalmological findings has been reported. 2 The pathogenesis of these persistent visual disturbances remains unclear, even if retinal spreading depression and vasospasm of retinal arterioles have been claimed. 2 We present the case of a patient who experienced persistent monocular visual loss after a retinal migraine attack and in whom alteration of the ipsilateral optic nerve was found at the magnetic resonance imaging (MRI) scan, suggesting an involvement of the optic nerve in retinal migraine. The patient described in this report is a 23-yearold woman with a history of headache, beginning in early adolescence with episodes of unilateral frontotemporal pulsating pain with side alternation, photophobia, and moderate intensity, often associated with transient unilateral monocular visual disturbances. These were characterized by a partial monocular visual filed defect (alternatively blurring, glittering, or blindness), often confined to a localized part of the unilateral visual field, lasting a few minutes and with side alternation of the affected eye among the headache attacks. The patient came to our emergency