Laughter-Induced Seizures: A Rare Type of Reflex Epilepsy.

This research explores the rare occurrence of laughter-induced seizures, a form of reflex epilepsy documented in only one previous case in the literature. The patient, free from prior medical or neuropsychiatric history, exhibited seizures triggered solely by laughter. Electroencephalography and neuroimaging revealed normal results. Despite declining medical therapy, lifestyle modifications enabled seizure management. The study emphasizes the dearth of data on laughter-induced seizures, prompting the consideration of multimodal strategies for treatment. Further research is imperative to unveil the precise pathophysiology and establish standardized therapeutic approaches for this uncommon epileptic manifestation.

Novel Heterozygous Variants in the HLA-DRB1 Gene in a Saudi Family With Early-Onset Familial Multiple Sclerosis: Therapeutic Failure and Success.

Multiple sclerosis (MS) is a chronic neurodegenerative disease that affects the central nervous system. Familial MS is arbitrarily defined as a type of MS that runs in families with 1 or more first- to third-degree relatives in addition to the index case affected by MS. The aim of this article is to report a unique case of familial MS from Saudi Arabia with 2 novel variants in the HLA-DRB1 gene that may contribute to the pathogenesis. We observed an unfavorable response to interferon therapy and successful treatment using fingolimod therapy. This observation needs further study, including whether this lack of response is specific to interferon treatment or possibly a chance occurrence. This family work-up illustrates the importance of genetic testing in identifying variants associated with familial MS, especially if more than 2 members of the same family are affected. Although this genetic tool is used mainly for research purposes, it had clinical implications for our patient, including the appropriate selection of disease-modifying therapy and prognostic counseling. Further large-scale studies are needed to expand the genetic spectrum of familial MS with clinical and pharmacologic correlation.

Mills' syndrome: Reporting the disease course with a monthly intravenous immunoglobulin program.

Mills' syndrome is an extremely rare, slowly progressive, unilateral ascending or descending clinical syndrome of upper motor neuron-predominant hemiparesis. In this article, we describe a case of a middle-aged woman (initial presentation and three years follow-up) who presented with progressive ascending hemiparesis with clinically isolated upper motor neuron signs and normal sensory examination. The patient received monthly intravenous immunoglobulin (IVIG) for three years with no progression of her weakness. To our best knowledge, the response of Mills' syndrome to such an IVIG program has not been reported in the literature so far. We aim to document the clinical response to IVIG in such rare syndrome.

Decompressive craniectomy as a lifesaving intervention for acute disseminated encephalomyelitis (ADEM).

Acute disseminated encephalomyelitis (ADEM), is an immune-mediated demyelinating disease of the central nervous system that commonly affects children and young adults of both sexes. Hyperacute variants of ADEM represent 2% of cases and are associated with rapid progression of symptoms, malignant brain edema, and high mortality rates. We report a case of a young woman presenting with a hyperacute storming course of few days who was managed with pulse steroid therapy and emergency craniectomy with an excellent outcome. We believe that our patient's acute clinical deterioration and findings on neuroimaging warranted prompt neurosurgery. Although treatment with immunomodulatory medications was commenced, the severity of her condition indicated that only surgical intervention was likely to be lifesaving. We recommend immediate neurosurgical consultation to consider prompt decompressive craniectomy in hyperacute variants with significant brain swelling. Multidisciplinary care including neurologist, neuroradiologist, neurosurgeon, neuropathologist, and neurointensivist is the only way to achieve success and improve survival in patients presenting with hyperacute ADEM.