Anti-Ma2 encephalitis in a phenotypic female with XY gonadal dysgenesis: A case report.

Anti-Ma2 encephalitis is an autoimmune disorder that typically involves the brainstem, limbic system, and diencephalon. It can be paraneoplastic and is more common in males. We describe an unusual presentation of anti-Ma2 encephalitis in a patient with an XY chromosome and a female phenotype. She experienced various neurological symptoms, including olfactory hallucinations, episodic nausea, per-ictal water drinking, and hypersomnolence, that were poorly controlled by antiseizure medications (ASMs) and immunotherapy. Brain MRI showed abnormalities in right medial temporal and frontal regions, and blood tests detected anti-Ma2 antibodies. Screening for malignancies yielded no tumors. Pelvic CT showed bilateral inguinal masses and the absence of a uterus, while genetic studies revealed an XY karyotype. Surgical removal of the masses, shown to be primitive gonads, offered temporary relief, necessitating ongoing ASMs and immunotherapy.

Multicentre Observational Study of Treatment Satisfaction with Cladribine Tablets in the Management of Relapsing Multiple Sclerosis in the Arabian Gulf: The CLUE Study.

INTRODUCTION: Inconvenient administration and side effects of some disease-modifying therapies (DMTs) for relapsing multiple sclerosis (RMS) can deter adherence. We evaluated treatment satisfaction with cladribine tablets (CladT) for RMS in the Arabian Gulf. METHODS: This was a non-interventional, multicentre, prospective observational study in non-pregnant/lactating adults (aged ≥ 18 years) with RMS eligible for 1st treatment with CladT (EU labelling). The primary outcome was overall treatment satisfaction at 6 months (Treatment Satisfaction Questionnaire for Medication [TSQM]-14, v. 1.4), Global Satisfaction subscale. Secondary endpoints were TSQM-14 scores for convenience, satisfaction with side effects and satisfaction with effectiveness. Patients provided written informed consent. RESULTS: Of 63 patients screened, 58 received CladT and 55 completed the study. Mean age was 33 ± 9 years; mean weight 73 ± 17 kg; 31% male/69% female; mostly from the United Arab Emirates (52%) or Kuwait (30%). All had RMS (mean 0.9 ± 1.1 relapses in the past year), mean Expanded Disability Status Scale (EDSS) 1.4 ± 1.2; 36% were DMT-naïve. Mean [95% CI] score was high for overall treatment satisfaction (77.8 [73.0-82.6]), ease of use (87.4 [83.7-91.0]), tolerability (94.2 [91.0-97.3]) and effectiveness (76.2 [71.6-80.7]). Scores were similar irrespective of DMT history, age, gender, relapse history or EDSS. No relapses or serious treatment-emergent adverse events (TEAE) occurred. Two severe TEAE occurred (fatigue, headache) and 16% reported lymphopenia (two cases of grade 3 lymphopenia). Absolute lymphocyte counts at baseline and 6 months were 2.2 ± 0.8 × 109/L and 1.3 ± 0.3 × 109/L, respectively. CONCLUSIONS: Treatment satisfaction, ease of use, tolerability and patient-perceived effectiveness for CladT were high, irrespective of baseline demographics, disease characteristics and prior treatment.

Commentary: Consensus Guidelines on the Appropriate Use of Brand-Name and Generic Anti-Seizure Medication for the Management of Epilepsy in the Gulf Region.

INTRODUCTION: The clinical, social, and economic burden of epilepsy is undeniable. Local guidance on epilepsy management is limited and needed to address the both use of anti-seizure medication (ASM) and switching practices which influence clinical outcomes. AREAS COVERED: An expert panel composed of practicing neurologists and epileptologists from countries of the Gulf Cooperation Council (GCC) met in 2022 to discuss local challenges in the management of epilepsy and formulate recommendations for clinical practice. Published literature on the outcomes of ASM switching was reviewed along with clinical practice/gaps, international guidelines, and local treatment availabilities. EXPERT OPINION: Improper ASM use and inappropriate brand-name-to-generic or generic-to-generic switching can contribute to worsening clinical outcomes in epilepsy. ASMs should be used for the management of epilepsy based on patient clinical profile, underlying epilepsy syndrome, and drug availability to ensure optimal and sustainable treatment. Both first-generation and newer ASMs can be considered; appropriate use is recommended from the beginning of treatment. It is critical to avoid inappropriate ASM switching to avoid breakthrough seizures. All generic ASMs should fulfill strict regulatory requirements. If needed, ASM changes should always be approved by the treating physician. ASM switching (brand-name-to-generic, generic-to-generic, generic-to-brand-name) should be avoided in epilepsy patients who have achieved control but can be considered for those uncontrolled on current medication.

A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.

Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effective for diagnosing patients with late-onset Pompe disease (LOPD). However, clinicians face numerous clinical challenges related to the diagnosis of the disease. Two expert group committee meetings, involving 11 experts from the United Arab Emirates, Kuwait, the Kingdom of Saudi Arabia, and Oman, were convened in October 2019 and November 2020 respectively to develop a uniform diagnostic algorithm for the diagnosis of pediatric and adult LOPD in the Arabian Peninsula region. During the first meeting, the specialty-specific clinical presentation of LOPD was defined. During the second meeting, a diagnostic algorithm was developed after a thorough validation of clinical presentation or symptoms, which was performed with the aid of existing literature and expert judgement. A consensus was reached on the diagnostic algorithm for field specialists, such as neurologists, rheumatologists, general practitioners/internal medicine specialists, orthopedic specialists, and pulmonologists. This specialty-specific diagnostic referral algorithm for pediatric and adult LOPD will guide clinicians in the differential diagnosis of LOPD.

Real-world experience of erenumab in patients with chronic or episodic migraine in the UAE.

BACKGROUND: Erenumab is a fully human monoclonal antibody and a highly potent, first-in-class calcitonin gene-related peptide receptor inhibitor approved for migraine prevention in adults. Randomised, placebo-controlled trials show that erenumab treatment results in clinically meaningful responses, including significant reductions in monthly migraine days. Real-world evidence of the effectiveness of erenumab in patients with migraine is accruing, but gaps remain, and findings may vary according to region. We evaluated the usage patterns and effectiveness of erenumab in real-world settings in patients with migraine in the United Arab Emirates (UAE). METHODS: This retrospective, observational real-world study enrolled patients ≥ 18 years with migraine who were prescribed erenumab in the UAE. Data were collected at baseline and Months 1, 3 and 6. The primary study objective was to characterise usage patterns of erenumab in patients with chronic migraine (CM) or episodic migraine (EM) in real-world settings in the UAE. RESULTS: Of the 166 patients, 124 (74.7%) were females. The mean (standard deviation) age at migraine onset was 29 (7.93) years. Seventy-one patients (42.8%) had CM and 95 (57.2%) had EM. In the overall population, the mean monthly headache/migraine days (MHD) at baseline was 15.7 (8.45) and mean change from baseline was - 8.2 (8.83) at Month 1, - 11.0 (9.15) at Month 3 and - 11.3 (8.90) at Month 6. The mean change from baseline in monthly acute migraine-specific medication days (MSMD) was - 9.0 (8.07) at Month 1, - 9.7 (8.73) at Month 3 and - 10.7 (8.95) at Month 6. At all time points, most patients achieved at least 50% reduction in MHD (80%-91%) and MSMD (84%-94%). Similar reductions in MHD and MSMD and clinical benefit in CM or EM were seen with erenumab monotherapy or erenumab add-on therapy, with or without dose escalation and for treatment naïve or ≥ 1 previous preventive treatment failures, with additional clinical benefit in the erenumab add-on therapy and dose escalation to 140 mg subgroups. CONCLUSION: In this real-world study on erenumab use in the UAE, patients prescribed erenumab achieved clinically meaningful reductions in MHD and MSMD at all assessed time points. Erenumab was well tolerated with no new safety events.

High-efficacy therapies for relapsing-remitting multiple sclerosis: implications for adherence. An expert opinion from the United Arab Emirates.

The number of disease-modifying treatments (DMDs) for relapsing-remitting multiple sclerosis has increased. DMDs differ not only in their efficacy and safety/tolerability, but also in the treatment burden of, associated with their initiation, route/frequency of administration, maintenance treatment and monitoring. High-efficacy DMDs bring the prospect of improved suppression of relapses and progression of disability, but may have serious safety issues, and burdensome long-term monitoring. Studies of patient preferences in this area have focused on side effects, efficacy and route of administration. Adherence to DMDs is often suboptimal in relapsing-remitting multiple sclerosis and there is a need to understand more about how the complex therapeutic and administration profiles of newer DMDs interact with these barriers to support optimal adherence to therapy.

Iatrogenic transverse myelitis in a patient with rheumatoid arthritis.

We report the case of a 59-year-old Arab woman who was presented with acute onset of neck pain followed by quadriparesis, paraesthesias of lower limbs and incontinence of urine. Examination revealed asymmetric sensorimotor quadriparesis with sensory level at T1, establishing a clinical diagnosis of transverse myelitis. Cervical and thoracic spinal MRI showed enhancing T2/fluid attenuated inversion recovery (FLAIR) hyperintense lesion extending from C4 to C7 level in addition to long-segment lesion extending the whole of the spinal cord. She was known to have rheumatoid arthritis for the past 20 years and has been on etanercept for the past 8 years and methotrexate since past 3 years. Etanercept was stopped and she was treated with methylprednisolone followed by oral steroids and physiotherapy with which she had near complete recovery.

Seizures with an atypical aetiology in an elderly patient: Eagle's syndrome--how does one treat it?

Onset of epilepsy can occur at any age, but it is relatively rare in the elderly. Late onset epilepsy is usually secondary to stroke, tumour, trauma or neurodegenerative disorders. A 62-year-old Indian woman presented with frequent drop attacks sometimes leading to unconsciousness and, rarely, associated with seizure. Her epilepsy work up was unremarkable. As the disease progressed, she was diagnosed as having idiopathic epilepsy, syncope or pseudo-seizure, on different occasions, and was treated at length with no response. Finally, detailed history-taking revealed her as having glossopharyngeal neuralgia leading to syncope and seizures. She subsequently improved. In clinical practice, such rare entities should also be considered for proper management of patients' ailments.

Can a stroke present with flexor spasms? A highly rare experience.

Involuntary movement disorders are not a common presentation of basal ganglia ischemia which may be induced by cerebral hemodynamic insufficiency. In secondary causes of movements disorders cerebrovascular diseases represent up to 22% and involuntary movements develop after 1-4% of strokes. We describe a case of a middle-aged woman who presented with intermittent involuntary tonic spasms or seizure-like episodes followed by weakness due to contralateral putaminal infarction. Initially thought to have Todd's paralysis she was not thrombolysed, but later she developed dense hemiplegia. Flexor spasms are generally thought to occur in lesions of the spinal cord but they can also occur in cerebral lesion, may be because of disinhibition of the spinal cord. Certain other theories also have been narrated, but this field still needs to be worked upon.