Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome.

Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a very rare autoinflammatory disease related to STING1 mutation. SAVI is mainly characterized by fever attacks and skin and respiratory manifestations such as interstitial lung disease or alveolar hemorrhage. Respiratory involvement occurs in 80% of cases and might progress to severe lung fibrosis and require lung transplantation (LT). Three patients with SAVI who underwent LT have been reported to date. Two of the three patients died months or years after LT due to multiple organ failure or sepsis. However, the diagnosis of SAVI was made after LT, thus preventing the use of targeted therapy, such as the Janus kinase 1 and 2 inhibitor (JAK1/2i) ruxolitinib, which might be beneficial for the respiratory status of these patients. We aimed to report our experience in managing three patients who were followed in three large lung transplantation centers in France and who benefited from ruxolitinib before undergoing LT. We describe posttransplant complications that occurred as well as outcomes.

How Physicians in a Moroccan Tertiary Care Center Perceive Teleconsultation During COVID-19 Pandemic?

Background: Recent technological advances have paved the way for a new modality of medical practice known as teleconsultation. Positive perceptions about the benefits of teleconsultation and its acceptance by clinicians are key predictors of its uptake. The aim of this study was to assess knowledge, perceptions, and acceptability of teleconsultation among Moroccan physicians. Methods: This is a descriptive cross-sectional study conducted at the Cheikh Khalifa International University Hospital (HCK) of Casablanca, Morocco. Study participants answered an anonymous self-administered questionnaire designed based on similar studies. The questionnaire contained four sections related to demographic characteristics, knowledge about telemedicine and teleconsultation, perceptions about teleconsultation, and its acceptability by the study participants. Results: Of 486 eligible participants, a total of 212 completed the questionnaire. Approximately 96.7% had prior knowledge of teleconsultation. Most participants identified internet access (95.3%), data security (93.4%), and confidentiality (92.9%) as the main facilitators to the use of teleconsultation. The main barriers to the use of teleconsultation were internet access issues (98.6%), poor audio quality (96.2%), poor video quality (94.3%), and difficulty encountered by patients in expressing themselves and communicating with their physician (79.7%). The majority of participants (91.5%) believed that teleconsultation will be an integral part of future medical practice and about 70.8% thought that they would be able to allot time to teleconsultation in their current schedules. Conclusions: The findings of this study should be used by policy makers to remove barriers and promote enablers of teleconsultation use by physicians to bring health care closer to the Moroccan population.

A burning encephalitis: Fluid-attenuated inversion recovery-hyperintense lesions in Anti-myelin oligodendrocyte glycoprotein-associated encephalitis with seizures in anti-myelin oligodendrocyte glycoprotein-associated encephalitis with seizures-A case report and review of the literature.

FLAMES, or fluid-attenuated inversion recovery-hyperintense lesions in anti-myelin oligodendrocyte glycoprotein (anti-myelin oligodendrocyte glycoprotein)-associated encephalitis with seizures, represents a rarely documented syndrome characterized by ambiguous features. Positioned within the spectrum of inflammatory demyelinating diseases of the central nervous system, it is regarded as a distinct subset of myelin oligodendrocyte glycoprotein antibody-associated disease, the latest classification in this domain. Myelin oligodendrocyte glycoprotein antibody-associated disease exhibits a diverse clinical spectrum, spanning from solitary optic neuritis or myelitis to multifocal central nervous system demyelination, manifesting as acute disseminated encephalomyelitis, or cortical encephalitis accompanied by seizures, delineating the fluid-attenuated inversion recovery-hyperintense lesions in anti-myelin oligodendrocyte glycoprotein-associated encephalitis with seizures syndrome. We present a compelling case study of a 30-year-old individual with a history of recurrent seizures initially diagnosed with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. However, the disease's progression more closely resembled self-resolving cerebral cortical encephalitis linked with myelin oligodendrocyte glycoprotein antibodies. In addition, we undertake a systematic review of literature cases to explore the diagnostic significance of magnetic resonance angiography, fluid-attenuated inversion recovery, and specialized markers such as diffusion-weighted imaging and perfusion in discerning fluid-attenuated inversion recovery-hyperintense lesions in anti-myelin oligodendrocyte glycoprotein-associated encephalitis with seizures syndrome and elucidating its distinctive characteristics.

Abdominal pain and distension in a 4-years-old child revealing an hepatoblastoma.

Hepatoblastoma (HBL) stands as the primary liver tumor most frequently encountered in children, typically identified within the initial 5 years of life. Cases involving patients older than 5 years are very rare. We report the case of a 4-year-old male child who presented to the emergency department with acute onset abdominal pain and fever. Clinical examination revealed significant abdominal distension, correlated with an abdominal mass later confirmed.

Cervico-occipital junction infectious osteoarthritis complicated with atlantoaxial dislocation, cervical abscesses and epiduritis: A case report and review of the literature.

Craniocervical junction infections are considered a rare condition and can be associated with degradation of the odontoid ligaments and, the risk of a subsequent atlantoaxial subluxation or dislocation. Osteomyelitis at this level is often seen in immunocompromised patients with, intravenous drug use or infective endocarditis. Atlantoaxial subluxation associated with pharyngeal infection or its surrounding tissues is called Grisel's syndrome. We report the case of a 29-year-old man diagnosed with infectious cervico-occipital osteoarthritis complicated by atlantoaxial dislocation, abscesses located in the retropharyngeal space, and the prevertebral space as well as upper cervical epiduritis. Our purpose is to highlight the role of radiologists in diagnosing this rare yet deadly condition.

A case of tuberous sclerosis complex revealed by epilepsy.

Tuberous sclerosis complex is a multisystem genetic disease with autosomal dominant inheritance, characterized by the development of benign tumors known as hamartomas that affect multiple organs. It is a condition with a wide phenotypic spectrum, and its clinical presentation varies over time within the same individual. Hence, the importance of early screening and rigorous monitoring of evolving clinical manifestations. Diagnosis can occur at any age. These tumors are generally benign, but their size and location can have a significant impact on the prognosis and, in some cases, even on life expectancy. Cardiac, neurological, and cutaneous manifestations are most common in childhood. The onset of early and severe epilepsy within the first year of life is associated with neurodevelopmental disorders that impact the quality of life for affected individuals and their families. We present a case of a 22-year-old female patient experiencing inaugural epileptic seizures in adulthood, with magnetic resonance imaging revealing subependymal hamartomas, cortical tubers and radial migration bands accompanied by polycystic kidney disease; the diagnosis of tuberous sclerosis complex was established based on the association of these lesions, which constitute major and minor criteria.

Bilateral carotid dissection due to Eagle syndrome.

Eagle syndrome is defined as a collection of symptoms affecting the cervical and cranial regions, resulting from an elongated styloid process or ossified stylohyoid ligament encroaching on surrounding structures and causing a variety of symptoms. Classically, Eagle syndrome presents as neck, throat, or ear pain. Carotid artery dissection is a rare complication of Eagle syndrome. We report the case of a 40-year-old man who presented with bilateral internal carotid artery dissection secondary to pathological elongation of the styloid processes.

Acute headache and seizures in psychiatric patient revealing atypical location of a ruptured dermoid cyst.

Intracranial dermoid cysts are rare slow-growing cystic lesions. They are frequently extra-axial, intra-axial localization is very rare. These benign congenital ectodermal inclusions cysts have a rare risk of rupture. Ruptured dermoid cysts can manifest with headache, epilepsy seizure, cerebral infarction, meningitis, and hydrocephaly. Neuroimaging features are quite characteristic. We report a case of a 30-year-old male who presented to the emergency room with subacute-onset headaches. CT scan and MRI show a ruptured intracranial dermoid cyst.

Retroperitoneal cystic lymphangioma coexisting with a uterine fibroid in a 42-year-old woman: A case report.

Lymphangiomas are rare benign neoplasms traditionally thought to result from congenital lymphatic channel malformations, though they may also be associated with other conditions. Retroperitoneal lymphangiomas account for 1% of all lymphangiomas, and fewer than 200 cases have been reported. A 42-year-old woman was admitted with symptoms of abdominal pain and distension. A computerized tomography (CT) scan showed an abdomino-pelvic mass and a giant uterine myoma. The patient underwent explorative laparotomy and the whole cyst mass was removed along with the uterine myoma. Cystic lymphangiomas are often misdiagnosed because of the vague symptoms and the absence of obvious etiology. A provisional diagnosis can be made with CT but histological examination confirms the diagnosis. Cystic lymphangioma should be included in the differential diagnosis of an ovarian cystic mass. Complete resection can be curative.

The patient acceptable symptom state of chronic musculoskeletal pain measured on a visual analog scale in Moroccan patients.

OBJECTIVES: The patient acceptable symptom state (PAccSS) is the value beyond which patients consider themselves well. Our aim was to determine the PAccSS of chronic pain in Moroccan outpatients suffering from chronic rheumatic diseases and to identify contributors to PAccSS. METHODS: A 4-week prospective study of 387 outpatients suffering from chronic rheumatic diseases was carried out. Pain level was evaluated using a 0-100 mm visual analog scale. An anchoring method based on patient's opinion was used. The PAccSS was defined as the 75th percentile of the score for patients who considered their state satisfactory. Pearson's chi-square and binary logistic regression were used to analyze the data. RESULTS: The underlying disease of the patients (mean age 50 ± 13 years; female sex 70%) was rheumatoid arthritis (N = 102), ankylosing spondylitis (N = 100), peripheral osteoarthritis (N = 100), and degenerative back pain (N = 85). The mean disease duration was 7.4 ± 6.7 years. At the time of the study, the level of pain was 44 ± 23 mm. One hundred ninety (49%) patients considered their state as satisfactory, and the PAccSS threshold was 50 mm. Significant contributors to PAccSS were high educational level, high socioeconomic status, higher functional status scores, and shorter term disease duration. CONCLUSION: Half of patients were satisfied of their disease state, while the PAccSS threshold of pain was unexpectedly high. This could be explained by an overestimation of the pain intensity or a Moroccan patients' high tolerance to pain. The main protective factors that contribute to achieving the PAccSS were high educational level, high socioeconomic status, higher functional status, and shorter term disease duration.

Primitive rectal melanoma: A rare case report.

Mucosal melanoma is a rare subtype of melanoma distinct from the cutaneous type in its clinical and biological aspects, requiring different therapeutical management. Anorectal melanomas represent less than 1% of anorectal cancers and 0.3% of malignant melanomas, and they are by far the most studied type. Proctologic examination, colonoscopy, and biopsy can establish a correct diagnosis. Imaging techniques, especially MRI can show some characteristic features, but it is essentially performed for extension assessment. We report the case of a 63-year-old man who consulted for rectal bleeding. The proctological examination found a brownish ulcerative-vegetating tumor of 3 cm in diameter located 3 cm from the anal rim. The endoscopic examination revealed a predominance of ulcerative budding lesions and the biopsy specimen confirmed a rectal melanoma. The extension assessment, based on a computed tomography scan and MRI did not show locoregional or distant metastases. Radiotherapy and abdominoperineal resection with pelvic node dissection was the treatment of choice with good evolution.

A misleading tumor: A rare form of infantile fibromatosis.

Infantile fibromatosis is a rare mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle, and viscera. The clinical features vary from solitary to multicentric forms with similar pathological features. Although the tumor is histologically benign, it is a highly infiltrating lesion making the prognosis poor for patients with craniofacial involvement affection due to the major risk of nerve vascular and airway compression syndrome. The solitary form of infantile fibromatosis observed in the dermis, subcutis, or fibromatosis tends to occur predominantly in males and typically affects craniofacial deep soft tissues. We present a case of an unusual symptom presentation and a rarely observed location of a solitary fibromatosis form, affecting the muscle of the forearm and infiltrating the bone in a 12-year-old girl. Imaging findings were suggestive of rhabdomyosarcoma, but histopathology set the diagnosis of an infantile fibromatosis. The patient, then, received chemotherapy, and amputation was proposed due to the inextricability of this benign yet aggressive tumor, an option that was refused by her parents. We discuss through this article the clinical, radiological, and pathological features of this benign yet aggressive condition, the potential differential diagnosis, the prognosis, and treatment options substantiated with concrete examples from the literature.

CLIPPERS manifesting with dizziness: Recognizable and treatable.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids is a very rare entity which is considered as a treatable condition. In some cases, clinical and radiological findings, associated to favorable evolution on steroids therapy can be sufficiently distinguishable to diagnose chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. We report the case of a 50-year-old man, suffering from acute dizziness with right facial paralysis and limited ocular abduction with his magnetic resonance imaging showing large confluent T2 and fluid-attenuated inversion recovery brainstem hyperintensities extending into the upper cervical spinal cord, infiltrating the basal ganglia and the thalami, with some punctate hyperintensities "peppering" the medial aspects of cerebellar hemispheres. This case illustrates atypical imaging features of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids on magnetic resonance imaging and our work also reviews different studies in the literature and highlights the differential diagnosis.

Normative values for the Bath Ankylosing Spondylitis Functional Index in the general population compared with ankylosing spondylitis patients in Morocco.

BACKGROUND: The Bath Ankylosing Spondylitis Functional Index (BASFI) has been commonly used in rheumatology to quantify functional disability in patients with ankylosing spondylitis (AS). Our aim was to evaluate the discriminating power of BASFI and determine the best cutoff score of this index in the general population compared with AS patients. METHODS: A cross-sectional study that included 200 patients suffering from AS and 223 subjects from the general population matched for age and sex was carried-out. The discriminating power of the BASFI by strata of age was evaluated by the area under the Receiver Operating Characteristic curve and the best cutoff was determined by the Youden index. RESULTS: The mean age of the general population was 39 ± 12 years. 76.7% of them were male. The median BASFI of the healthy subjects and patients was 0.2 and 4.5 (P < 0.001) respectively. The best cutoff of BASFI was 1.5 with a sensitivity of 86% and a specificity of 90%. In the age group of 18-29 years, the best cutoff of the BASFI was 0.9 with a sensitivity of 93% and a specificity of 94%. In the age group of 30-50 years, the best cutoff of the BASFI was 1.5 with a sensitivity of 84% and a specificity of 88%. For those over 50 years of age, the best cutoff of the BASFI was 2.5 with a sensitivity of 84% and a specificity of 97%. CONCLUSIONS: This study suggests that the discriminating power of BASFI is considered good at any age. The best cutoff of this index increased as age increases as functional disability is associated in part with lifestyle choices and increases with age. The cutoff values of the BASFI that we have presented could be used as a reference benchmark for both clinical practice and research.

Psychological status in Moroccan patients with ankylosing spondylitis and its relationships with disease parameters and quality of life.

BACKGROUND: The evaluation of emotional status is an important parameter in management of rheumatic diseases. There are few studies evaluating the psychological status in ankylosing spondylitis (AS) and its relationships with disease parameters and quality of life. OBJECTIVE: In this study, we evaluated the psychological status in Moroccan patients with AS and its relationships with the activity of the disease, the functional status, and the quality of life. PATIENTS: One hundred ten patients were included in this cross-sectional study according to the modified New York criteria for AS. Psychological status was assessed by the Hospital Anxiety and Depression Scale (HADS) including the depression and anxiety subscales. The quality of life was evaluated by the Short Form 36. RESULTS: Depression was found in 55.5% and anxiety in 60% among our patients. The HADS depression and anxiety subscales were significantly correlated with clinical parameters and with worsening in all domains of the Short Form 36.Multivariate logistic regression analysis revealed that role limitations due to emotional problems, vitality, and general health perception were independent risk factors of anxiety. The Bath Ankylosing Spondylitis Functional Index, vitality, and role limitations due to emotional problems were the independent factors that influenced the risk of depression. CONCLUSION: This study suggests that depression and anxiety are frequent in AS. Impaired quality of life and functional disability seemed to be independent risk factors of psychological disorders. Therefore, assessment and management of patients with AS should take into account the evaluation and management of their psychological disorders and improvement of their functional disability.