Pathological Laughter Prodromal to a Stroke of the Head of the Left Caudate Nucleus

A 38-year-old right-handed female with a past history of intermittent painful rash, dizzy spells, and chronic daily headaches as well as episodic migraines experienced an episode of transient involuntary pathological laughter, right arm weakness, and expressive dysphasia. She was found on MRI to have multiple strokes in multiple vascular distributions, including one in the head of the left caudate. A cardiac ECHO found an atrial myxoma, with extensive evaluation for other causes of stroke unrevealing. The differential diagnosis for pathological laughter in this patient is discussed. The most plausible cause in this patient is an infarct to the head of the left caudate nucleus caused by an embolus of the atrial myxoma.

Autonomic Status Epilepticus in a Patient with Parasellar Meningioma: A Case Report

Autonomic status epilepticus (Aut SE) is a condition characterized by ongoing focal autonomic seizure lasting for >30 min. Aut SE can show a variety of clinical manifestations including vomiting, nausea, changes in heart rate, piloerection, pupillary abnormalities, and visual abnormalities. Although Aut SE is a common finding in childhood in the context of Panayiotopoulos syndrome, few reports have described this condition during adulthood. In the present report, we describe a case of Aut SE in an adult patient with parasellar meningioma and bilateral frontotemporal epileptiform activity on EEG record.

Mimicking Amyotrophic Lateral Sclerosis: A Case of a Spinal Dural Arteriovenous Fistula

A number of conditions can mimic amyotrophic lateral sclerosis (ALS), which are in general excluded by neurophysiological and neuroimaging investigation. We present a novel mimicking disorder. A 58-year-old male, without relevant past medical history, presented with a 7-year history of progressive paraparesis. On examination, he had bilateral thigh atrophy, fasciculations, and asymmetric paraparesis (severe on the left side). Upper motor neuron signs were present in the lower limbs, with normal sensory examination. Needle EMG disclosed mild chronic neurogenic changes in the lower limbs. Brain and spinal cord neuroimaging was normal, namely, in the dorso-lumbar segment. Lumbar puncture showed mild hyperproteinorachia. Diagnosis of slowly progressive (possible) ALS was established. One year later, he required a bilateral support to walk, and neurological examination revealed weak tendon reflexes, abnormal pinprick, and proprioceptive sensation in the legs. Repeated lumbar MRI showed an extensive spinal cord oedema from T7 to the conus with multiple perimedullary vessel flow voids suggestive of a vascular malformation. Conventional angiography revealed a spinal dural arteriovenous fistula in L2–L3 with the left L4 lumbar branch as the afferent artery. Dural arteriovenous fistula is the most common vascular malformation of the spinal cord, despite being rare. It leads to arterialization of spinal veins, causing venous hypertension, spinal cord oedema, and ischaemia. The clinical picture includes a stepwise, sometimes fluctuant, myeloradiculopathy. In this case, EMG changes did not meet Awaji criteria. This case reinforces the need to critically follow atypical cases to ascertain clinical progression in patients with suspected ALS.

Treatment of Dysphagia with Biofeedback and Functional Electrical Stimulation in a Patient with Wallenberg Syndrome: A Prospective Case Report

Biofeedback games and automated functional electrical stimulation (FES) can be used in the treatment of dysphagia. This case study aims to evaluate the effect of the treatment on a 77-year-old man with chronic Wallenberg syndrome and his and the therapist’s experiences when using this therapy form. The participant received intensive treatment for nine days with Facial Oral Tract Therapy, biofeedback games and FES. The Penetration Aspiration Scale was scored using Functional Endoscopic Evaluation of Swallowing at baseline and the end of the intervention period. Swallowing-specific parameters were measured daily, and interviews were conducted with the patient and therapist during the intervention period. The patient and therapist both expressed a positive attitude to the ease of use and usefulness of this technology, despite there being no measurable change in the participant’s swallowing and eating function and only small improvements in swallowing parameters. The experience from this study was that biofeedback games and FES gave only small improvements in swallowing for this participant but were motivating and easy to use. Further research is needed to investigate the effect of this therapy on other participants with a more robust research design.

Bilateral Paragangliomas in the Setting of Autonomic Dysfunction: A Case Report

In 2018, a 59-year-old female patient presented with hoarseness in her voice, headache, intermittent pain in her right side, difficulty of right arm movement, left side neck pain, difficulty controlling hypertension of unknown etiology, and a large mass on the upper left side of her neck with a smaller mass on the right side. MRI of the neck revealed masses at each carotid bifurcation. These were determined to be bilateral paragangliomas. Paragangliomas are rare tumors, and bilateral ones tremendously so. The patient underwent radiation over 2 years, resulting in the successful shrinking and stabilization of both masses. Since completing radiation, the patient reported improvement in her memory, and her blood pressure has stabilized with medication.

Does Madopar Have a Role in the Treatment of Prolonged Disorders of Consciousness? A Call for Randomized Controlled Trials

It is suggested that dopaminergic treatment may contribute to accelerated improvement in patients with a disorder of consciousness (DoC). Dopamine is an important stimulatory neurotransmitter, which plays a key role in alertness, arousal, behavior, emotion, cognition, and motor function. We discuss our experience with Madopar in 2 patients with DoC and review the literature on dopaminergic medication in patients with DoC.

Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

We present a family with 3 generations of FLNA gene-associated periventricular nodular heterotopia (PVNH), with a unique presentation in a fetus with multiple neurologic malformations. Neurologic abnormalities were noted on routine fetal imaging for a 33-year-old G1P0 woman; absence of the corpus callosum and PVNH was confirmed on follow-up MRI. This prompted genetic evaluation, revealing a nonsense mutation in the FLNA gene. Familial genetic analysis and neuroimaging revealed the same variant and MRI evidence of PVNH in the fetus’s asymptomatic mother, and maternal grandmother, who had a long history of seizure disorder. Such phenotypic variability within a single family demonstrates the spectrum of PVNH and the importance of genetic counseling for patients with PVNH. This case also adds to existing literature on the rare but not unique presentation of FLNA-associated fetal malformations.

A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in <i>SPAST</i> on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia type 4 (SPG4), the most common form of HSPs. SPG4 is characterized by a clinically pure phenotype that is associated with restricted involvement of the corticospinal tract; however, it is often accompanied by additional neurological symptoms such as epilepsy and cognitive impairment. There are few reports regarding the clinical course and treatment of epilepsy associated with SPG4. We describe a 21-year-old male patient with progressive weakness and spasticity of the lower limbs since infancy, which was complicated by epilepsy and cognitive impairment. Magnetic resonance imaging of the brain showed right hippocampal atrophy before the onset of epilepsy. Genetic analysis revealed a novel missense variant (NM_014946.4:c.1330G&#x3e;C, p.Asp444His) in the <i>SPAST</i> gene. At the age of 13, the patient developed focal epilepsy, characterized by focal onset seizures that were preceded by a sensation of chest tightness. Carbamazepine, levetiracetam, and zonisamide were ineffective in controlling the seizures; however, the use of lacosamide in combination with lamotrigine and valproate was highly effective in improving the seizure symptoms and led to the patient being seizure free for at least 2 years. In conclusion, the missense variant in <i>SPAST</i> may cause a complex SPG4 phenotype accompanied by epilepsy and cognitive impairment, suggesting that the clinical manifestations of this condition do not confine to the motor system.

Distressing Belching with Chorea Induced by Caudate Infarction

Although belching is mostly associated with gastrointestinal disorders, it occasionally accompanies movement disorders such as Parkinsonism or dystonia. A woman in her 80s presented distressing belching and chorea of the right arm and leg from 3 years earlier. A brain MRI showed a left caudate infarction and atrophic change. Haloperidol significantly improved belching and chorea. Caudate infarction can cause distressing belching with chorea. It might be important to select the appropriate drug by referring to the accompanying involuntary movement to treat belching with movement disorders.