A patient with autoimmune limb-girdle myasthenia, and a brief review of this treatable condition

Limb-girdle myasthenia gravis (LGM) is an uncommon clinical picture related to an antibody-mediated blockage of the neuromuscular junction. We describe a 44-year old man who presented with a proximal limbs' weakness that resembled a myopathic disorder. The repetitive nerve stimulation at 3Hz showing a decremental response suggested myasthenia, that was confirmed by the presence of an increased titer of anti-acetylcholine receptor antibodies (AChRAbs), and of hyperplastic foci at thymus histology. Symptomatic treatment with pyridostigmine was not effective, whereas the patient improved adding Azathioprine. In conclusion, a myopathic-like clinical picture in an adult could be caused by LMG. Thymus pathology, or (rarely) increased AChRAbs could support the diagnosis of LGM

Bilateral Facial Palsy as the Onset of Neurosarcoidosis: A Case Report and a Revision of Literature

Unilateral facial nerve palsy (FNP) is one of the most common cranial mononeuropathies. Among rare etiologies, neurosarcoidosis (NS) can cause bilateral involvement (both recurring and simultaneous) only in 15% to 25% of cases. The rarity of this systemic disease and its clinical heterogeneity, due to granulomatous inflammation that may affect many anatomic substrates, frequently make the diagnosis a real challenge for the clinician. Based on laboratory and instrumental tests, a careful diagnostic algorithm must be adopted to avoid misdiagnosis and delay in treatment. We present a 52-year-old woman with an acute onset of unilateral right FNP, rapidly developing contralateral involvement (simultaneous bilateral FNP). Lung findings pointed towards a systemic disease, and then lymph node biopsy confirmed NS. Corticosteroid therapy was started. After three years of follow-up, the patient is still in remission with a low prednisone dose. We discuss the differential diagnosis of bilateral FNP, focusing on clinical presentation, diagnosis, and treatment of NS. We have performed a literature revision, confirming bilateral FNP, outside Heerfordt syndrome, to be rare and sometimes represent the only neurological manifestation of NS onset

Auditory seizures in autoimmune epilepsy: a case with anti-thyroid antibodies

In its classic presentation, Hashimoto's encephalopathy is an acute-subacute complex neuropsychiatric syndrome with cognitive impairment, hallucinations, myoclonus, tremor or ataxia, associated with elevated anti-thyroid antibodies. Corticoids and immunotherapy are dramatically effective. However, in some cases, not all the associated features are presented and this delays diagnosis and appropriate treatment. We describe a man with abrupt onset of recurrent auditory seizures resulting in refractory non-convulsive status epilepticus. The patient was diagnosed with an autoimmune encephalopathy with elevated serum and CSF anti-thyroid antibodies. None of the antiepileptic drugs were successful, however, following immune-modulating therapy, the refractory non-convulsive status epilepticus dramatically improved, as did the patient overall. We suggest that Hashimoto's encephalopathy should be suspected in otherwise healthy patients with unexplained new-onset focal recurrent auditory seizures which do not respond to antiepileptic drugs. The presence of anti-thyroid antibodies in the CSF supports this diagnosis

Abnormal motor cortex plasticity in juvenile myoclonic epilepsy

AbstractPurposeAbnormal cortical plasticity has been hypothesized to play a crucial role in the pathogenesis of juvenile myoclonic epilepsy (JME). To study the motor cortical plasticity we used paired associative stimulation (PAS). When a repetitive electrical stimulus to the median nerve is paired with a transcranial magnetic stimulus (TMS) pulse over the controlateral motor cortex with at an interstimulus interval (ISI) of 21.5–25ms, a long term potentiation (LTP)-like synaptic plasticity is induced in the corticospinal system.Aim of this study was to investigate the motor cortex LTP-like synaptic plasticity by means of PAS in patients with JME.MethodsTwelve adult patients with JME were compared with 13 healthy subjects of similar age and sex. PAS consisted of 180 electrical stimuli of the right median nerve paired with a single TMS over the hotspot of right abductor pollicis brevis (APB) at an ISI of 25ms (PAS25). We measured motor evoked potentials (MEPs) before and after each intervention for up to 30min.ResultsIn healthy subjects the PAS25 protocol was followed by a significant increase of the MEP amplitude (p<0.001). On the contrary, in patients with JME, the MEP amplitude did not change.ConclusionDefective motor cortex plasticity is likely involved in the pathogenesis of JME

Bilateral Facial Palsy as the Onset of Neurosarcoidosis: A Case Report and a Revision of Literature

Unilateral facial nerve palsy (FNP) is one of the most common cranial mononeuropathies. Among rare etiologies, neurosarcoidosis (NS) can cause bilateral involvement (both recurring and simultaneous) only in 15% to 25% of cases. The rarity of this systemic disease and its clinical heterogeneity, due to granulomatous inflammation that may affect many anatomic substrates, frequently make the diagnosis a real challenge for the clinician. Based on laboratory and instrumental tests, a careful diagnostic algorithm must be adopted to avoid misdiagnosis and delay in treatment. We present a 52-year-old woman with an acute onset of unilateral right FNP, rapidly developing contralateral involvement (simultaneous bilateral FNP). Lung findings pointed towards a systemic disease, and then lymph node biopsy confirmed NS. Corticosteroid therapy was started. After three years of follow-up, the patient is still in remission with a low prednisone dose. We discuss the differential diagnosis of bilateral FNP, focusing on clinical presentation, diagnosis, and treatment of NS. We have performed a literature revision, confirming bilateral FNP, outside Heerfordt syndrome, to be rare and sometimes represent the only neurological manifestation of NS onset

Schooling and Occupational Outcomes in Adults with ADHD: Predictors of Success and Support Strategies for Effective Learning

Attention Deficit Hyperactivity Disorder (ADHD) is a neurobehavioral disorder that is usually diagnosed in childhood. It is characterized by attention deficits, hyperactivity, and impulsivity leading to significant impairment in academic, occupational, familiar, and social functioning. Most of the literature has been focusing on the impact of this condition on infancy and preadolescence, but little is known on its consequences in adulthood. This narrative review addresses this gap by focusing on the studies regarding the schooling outcomes of this population. After identifying the specific clinical and neuropsychological profile of ADHD in adults, this study analyzes their precise needs for effective learning and presents evidence on their academic and occupational achievements. Pharmacological, educational, and rehabilitative factors predicting a positive scholastic and career success are critically reviewed. Finally, this study focuses on the strategies that can improve the learning processes in adults with ADHD by expanding the analysis on executive functions, metacognition, and emotional dysregulation. Schooling outcomes in adults with ADHD, therefore, are conceptualized as a complex measure depending on several variables, like early pharmacological treatment, educational support, neuropsychological intervention, and targeted strategies for life-long learning

Impaired Visual Inhibition in Amnestic Mild Cognitive Impairment

Objective.The pathophysiology of amnestic mild cognitive impairment (aMCI) and Alzheimer disease (AD) is still a matter of debate. Visual system might be precociously altered, especially for its cholinergic connections. We thus studied patients with aMCI compared to AD with paired-pulse flash-visual evoked potentials (paired-F-VEPs), a putative marker of cholinergic function. Methods. We enrolled 12 adult patients with aMCI and 12 with AD. 14 normal age- and sex-matched subjects acted as controls (HS). Stimuli were single flashes, with interspersed random flash pairs at critical interstimulus intervals (ISIs, 16.5 to 125 ms) with closed eyes. The "single" (unconditioned) F-VEP was split into a "main complex" (50 to 200 ms after the flash) and a "late response" (200 to 400 ms). As for paired stimulation, the "test" F-VEP emerged from electronic subtraction of the "single" F-VEP from the "paired"-F-VEP. Results. In the single F-VEP, P2 latency was prolonged in patients (aMCI and AD) compared to HS (p < .05). As to the paired F-VEPs, in aMCI the "late response" normal inhibition was abolished at ISIs 50-62.5 ms (p <= .016), compared to AD and controls. No changes were detected for the "main complex". Conclusions. Paired-F-VEPs demonstrate a defective neural inhibition in the visual system of patients with aMCI at critical intervals. It may represent a compensatory mechanism against neuronal loss, the failure of which may be involved in AD development. Paired-F-VEPs may warrant inclusion in future preclinical/clinical studies, to evaluate its potential role in the pathophysiology and management of aMCI