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Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or regional reports of hereditary transthyretin amyloidosis. This report outlines the diagnosis and management of patients with a mixed phenotype of hereditary transthyretin amyloidosis and enriches clinical data supporting the pathogenicity of a rare variant of transthyretin.

L'hypertrophie ventriculaire gauche est une entité clinique fréquente pour laquelle le diagnostic différentiel est vaste. Nous décrivons le cas d'une femme d'âge moyen présentant une hypertrophie ventriculaire gauche et une neuropathie, causées par un variant rare de la transthyrétine en l'absence d'antécédents familiaux ou de cas régionaux déclarés d'amylose héréditaire à transthyrétine. Le présent article décrit le diagnostic et la prise en charge des patients qui présentent un phénotype mixte d'amylose héréditaire à transthyrétine, et il alimente le bassin de données cliniques sur la pathogénicité d'un variant rare de la transthyrétine.

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INTRODUCTION: COVID-19 pandemic is thought to influence the natural history of immune disorders, yet the knowledge on its effect on multiple sclerosis (MS) is unknown and not fully understood for which we conducted this retrospective study. METHODS AND MATERIALS: We included all patients with MS seen in King Faisal Specialist Hospital and Research Centre in Jeddah, Saudi Arabia, between January 2017 and October 20201. We determined clinical and radiological evidence of disease activities in all patients by the end of the study period, and we compared the disease patterns before and during the pandemic. We also identified patients with COVID-19 since March 2020, who had at least 3 months of follow-up following the infection. RESULTS: We studied 301 patients; 216 (72%) were women, the mean age was 38 years (range; 16, 73 years), the mean disease duration was 10 years (range; 1, 36 years), and the median EDSS score was 0.5 (range; 0, 8). RRMS accounted for most of the cases (270 patients). MS disease activities were 25% less prevalent during the pandemic compared to the preceding 3 years (26 vs. 51%, respectively, p < 0.01). Bivariate analysis showed significant higher disease activities in patients younger than 35 years (73 vs 27%), on DMT (68 vs 32%), and complaint to therapy (69 vs 31%). Multiple logistic regression analysis showed that the likelihood of MS disease activities were 3 times more during the pre-pandemic era (adjusted OR = 3.1, p value < 0.05, 95% CI; 1.4, 7.1). Thirty patients (10%) were infected with COVID-19. All patients reported mild symptoms, and none required hospitalization. COVID-19 was prevalent among younger patients with RRMS, with low EDSS scores, irrespective of DMTs they received. COVID-19 infection was not associated with clinical relapses or MRI changes. Disease activities were dependent on DMT use and not COVID-19 status. Multivariate analyses also confirmed no effect of COVID-19 on disease activities (p = 0.3 and 0.4, for clinical and MRI changes, respectively). CONCLUSIONS: MS disease activities did not increase during the pandemic, yet the apparent decrease in the disease activities is probably due to under reporting and not a real decrease in disease activities because of the pandemic. The COVID-19 infection in our MS patients showed a benign disease course, yet standard precautions to reduce the risk of COVID-19 transmission should be applied accordingly.

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Lumbar puncture (LP) is done daily for both spinal anesthesia and emergency cases for cerebrospinal fluid (CSF) analysis. Subdural hemorrhage (SDH) is a rare but severe complication following diagnostic LP, which could be potentially fatal, and early diagnosis may be life-saving. We present a 28-year-old female patient who presented to our emergency department with a headache, fever, and vomiting, with normal initial laboratory and imaging. Diagnostic lumbar puncture was done to exclude central nervous system infection. After CSF results and cultures were negative, and nasal influenza B detected, medication was started and she was discharged home. Three days post-procedure, she was complaining of a severe, persistent headache and a head computed tomography (CT) was done, which revealed acute SDH. Extensive workup searching for the cause of SDH was negative, and with a stationary course of SDH, she has discharged home again with a diagnosis of SDH post LP complication. In conclusion, a headache post LP is common and usually benign and self-limited. Severe persistent headache that is not positional and doesn't respond to analgesics with caffeine should be considered a red flag after LP and should be investigated carefully for other possibilities such as SDH.

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Immune reconstitution therapy (IRT) is an emerging management concept for multiple sclerosis, whereby a short course of treatment provides long-lasting suppression of disease activity. "Cladribine tablets 10 mg" refers to a total cumulative dose of cladribine given over 2 years (henceforth referred to as cladribine tablets 3.5 mg/kg); it is a relatively new treatment option that is hypothesised to act as an IRT acting preferentially on the adaptive immune system. A randomised, 2-year, placebo-controlled trial (CLARITY) showed that treatment with cladribine tablets reduced indices of disease activity (relapses, lesions on magnetic resonance images, disability progression) and that this effect outlasted the pharmacologic effect of the treatment on the immune system (mainly a reduction in circulating B and T cells, with little effect on components of the innate immune system such as monocytes). CLARITY Extension, a 2-year extension to this trial, demonstrated durable efficacy, also in patients who received the standard 2-year course of cladribine tablets 3.5 mg/kg and were re-randomised to placebo for a further 2 years. Relative risk reductions for relapse rate with cladribine tablets 3.5 mg/kg were similar for patients with or without prior high disease activity. Reductions in disability progression with cladribine tablets 3.5 mg/kg were higher in patients with prior high relapse rates with or without prior treatment non-response. In this review, we describe the therapeutic profile of cladribine tablets 3.5 mg/kg and provide practical information on initiating this treatment option in the most appropriate patients.