[McArdle's disease revealed by acute low back pain]. / Une maladie de McArdle révélée par une lombalgie aiguë.

INTRODUCTION: McArdle disease, or glycogen storage disease type V (GSD 5), is a rare metabolic myopathy linked to an autosomal recessive myophosphorylase deficiency. CASE REPORT: We report the case of a 17-year-old male patient who was referred to the emergency department for the management of acute inflammatory low back pain, without traumatic context, associated with an increase of CK at 66,336 UI/L (N<192UI/L) and a CRP at 202mg/L. The immunological assessment was negative and the spinal MRI showed images in favor of necrotizing fasciitis affecting the erector spinae muscles, among others. Faced with the description of difficulties in practicing physical activities since childhood and a non-ischaemic forearm exercise test showing no elevation in lactacidemia, genetic tests were carried out, finding two heterozygous variants in the PYGM gene: c.1963G>A (p.Glu655Lys) class 5 and c.2178-1G>A class 4, confirming the diagnosis of McArdle disease. DISCUSSION: GSD 5 is a disease characterized essentially by muscular fatigability during exercise. The case reported here is original in the clinical circumstances leading to the diagnosis, i.e., inaugural acute low back pain with rhabdomyolysis. This symptomatology had already been described before, but in a patient whose diagnosis was already known. Spinal MRI showed non-specific muscle inflammation and necrosis. Muscle biopsy only found necrosis but no pathological elements typical of the diagnosis. If the symptoms are suggestive, it may be preferable to directly perform a non-ischaemic forearm exercise test, in order to go directly to molecular genetic analysis. There is no specific curative treatment of GSD 5. However, some measures can be implemented to limit the symptoms, such as learning physical exercises, limiting intense efforts and adopting dietary recommendations.

Pregnancy outcome in patients with a medical history of immunoglobulin A vasculitis: a case-control study.

OBJECTIVE: Data on obstetric outcomes in patients with a history of immunoglobulin A vasculitis (IgA-V) are lacking. The aim of this study was to assess maternal, neonatal, and vasculitis outcomes during pregnancy. METHOD: We conducted a French retrospective case-control study. Pregnancies of patients with a history of IgA-V (cases) were retrospectively studied and compared to pregnancies in women who developed IgA-V after their pregnancies and to pregnancies in healthy women (controls). RESULTS: Twenty-six pregnancies in patients with a history of IgA-V were included and compared to 15 pregnancies in women who later developed IgA-V and 52 pregnancies in healthy women. Both gestational hypertension and pre-eclampsia were more frequent in the case group than in the other groups (23% vs 0% vs 0%, p < 0.01; 12% vs 7% vs 0%, p = 0.04). Hypertensive disorder of pregnancy occurred more frequently in patients with pre-existing kidney disease (78% vs 12%, p < 0.01). Caesarean section was more often performed in the case group than in the other groups (27% vs 0% vs 10%, p = 0.04). No foetal loss or maternal deaths occurred. There were no differences in delivery term or birth weight. No vasculitis flares were observed during pregnancy. CONCLUSION: Women with a history of IgA-V appear to be at higher risk for gestational hypertension and pre-eclampsia, especially in cases with renal involvement; however, both mother and newborn outcomes appear to be favourable.

[A late onset diagnosis of giant cell arteritis in remission]. / Diagnostic tardif d'une artérite à cellules géantes en rémission.

Giant-cell arteritis (GCA) is a classical cause of chronical inflammation (CI) in the elderly, causing headaches, scalp hypersensitivity and jaw claudication. We describe a patient with a GCA revealed with a year-long biological inflammation and weight loss. Diagnosis was performed on a systematic temporal artery biopsy showing typical histological features. No treatment was intended as the patient had a spontaneous remission, maintained at one year of follow-up. This case highlights the benefit of a systematic temporal artery biopsy to explore CI and reminds us that GCA may undergo spontaneous remission.

Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.

BACKGROUND: A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome'). OBJECTIVES: To describe clinical characteristics, laboratory findings and outcomes of VEXAS syndrome. METHODS: One hundred and sixteen patients with VEXAS syndrome were referred to a French multicentre registry between November 2020 and May 2021. The frequency and median of parameters and vital status, from diagnosis to the end of the follow-up, were recorded. RESULTS: The main clinical features of VEXAS syndrome were found to be skin lesions (83%), noninfectious fever (64%), weight loss (62%), lung involvement (50%), ocular symptoms (39%), relapsing chondritis (36%), venous thrombosis (35%), lymph nodes (34%) and arthralgia (27%). Haematological disease was present in 58 cases (50%): myelodysplastic syndrome (MDS; n = 58) and monoclonal gammopathy of unknown significance (n = 12; all patients with MGUS also have a MDS). UBA1 mutations included p.M41T (45%), p.M41V (30%), p.M41L (18%) and splice mutations (7%). After a median follow-up of 3 years, 18 patients died (15·5%; nine of infection and three due to MDS progression). Unsupervised analysis identified three clusters: cluster 1 (47%; mild-to-moderate disease); cluster 2 (16%; underlying MDS and higher mortality rates); and cluster 3 (37%; constitutional manifestations, higher C-reactive protein levels and less frequent chondritis). The 5-year probability of survival was 84·2% in cluster 1, 50·5% in cluster 2 and 89·6% in cluster 3. The UBA1 p.Met41Leu mutation was associated with a better prognosis. CONCLUSIONS: VEXAS syndrome has a large spectrum of organ manifestations and shows different clinical and prognostic profiles. It also raises a potential impact of the identified UBA1 mutation.

[Lung involvement of pyoderma gangrenosum: Diagnostic and therapeutic discussion based on a case report and a targeted literature review]. / Atteinte pulmonaire de pyoderma gangrenosum : discussion diagnostique et thérapeutique à partir d'un cas et d'une revue ciblée de la littérature.

INTRODUCTION: Pyoderma gangrenosum (PG) is a rare, mainly dermatological condition, whose unusual and little-known lung involvement presents a diagnostic and therapeutic challenge. CASE REPORT: A 66-year-old man, followed for 6 years for an IgA monoclonal gammopathy of undetermined significance and an initially cutaneous corticosteroid-dependent PG, received a pneumonectomy for a mass suspected of neoplasia, that turns out to be a PG pulmonary localisation. During successive pneumopathies, sometimes dyspneic and excavated, several hypotheses are discussed. Various infectious and immunological explorations, and various antibacterial/fungal or immunosuppressive therapies are conducted, to finally conclude to pulmonary and/or cutaneous recurrences of PG. The outcome at 14 months seems finally favourable with tofacitinib. CONCLUSION: The recognition of cutaneous involvement of PG, which is essential for the diagnosis of its lung involvement, is probably the mirror of its evolution under treatment. Only multidisciplinary confrontation of reported cases will allow the elaboration of diagnostic and therapeutic recommendations.

[Polymyalgia rheumatic and chronic myelomonocytic leukemia]. / Pseudo-polyarthrite rhizomélique satellite d'une leucémie myélomonocytaire chronique.

INTRODUCTION: Myelodysplasia (MDS) can occur as systemic manifestations such as connective tissue diseases or vasculitis. Rheumatological manifestations are also described in such context. Herein, we report the observation of a patient with chronic myelomonocytic leukemia (CMML) who developed systemic manifestations: polymyalgia rheumatica and pericarditis. CASE REPORT: A 78-year-old patient was referred for the exploration of two months history of inflammatory shoulder pain associated with biological inflammatory syndrome. He presented with asthenia, anorexia and loss of 5kg in one month. He had a three years follow-up for a CMML without any specific treatment. All of the explorations carried out showed a typical polymyalgia rheumatica. A pericardial effusion requiring emergency drainage was synchronously diagnosed. All the symptoms occurred during a worsening of his hematological disease. The rheumatological manifestation was favorable after a short corticosteroid therapy and pericarditis did not recur after 2 years of follow-up. CONCLUSION: It should be necessary to screen patients for MDS in a context of systemic manifestation, especially in elderly patients with an abnormal blood count (cytopenia, macrocytosis and monocytosis).

[IgA vasculitis secondary to Klebsiella pneumoniae infection]. / Vascularite à IgA satellite d'une pneumopathie abcédée à Klebsiella pneumoniae.

INTRODUCTION: IgA vasculitis is a leucocytoclastic vasculitis of small vessels with immune deposits of IgA. It tends to occur in a post-infectious context, though the pathogenic agent is rarely found. OBSERVATION: We report, for the first time, the case of an 81-year old patient who presented with an acute IgA vasculitis with cutaneous and joint involvement during a Klebsiella pneumoniae respiratory infection. Remission of vasculitis was observed after antibiotic therapy alone. CONCLUSION: This observation reminds us of the need to search carefully for any pathogenic agent that may be driving IgA vasculitis as this may be important both for understanding aetiology and for treatment.

[Encapsulant peritonitis]. / Une péritonite encapsulante.

INTRODUCTION: Encapsulating peritonitis is a rare but severe chronic fibrotic condition related to the development of a white fibrous membrane surrounding the digestive tract. Idiopathic forms have been described, however the disease is most often secondary to peritoneal dialysis or more rarely to surgery. Treatment is difficult and not codified. CASE REPORT: We report here the observation of a 36-year-old patient whose diagnosis of encapsulating peritonitis was made after a long sub-occlusive history, eight years after a gastric ulcer perforation. DISCUSSION: We discuss the possible etiologies and we present a focus on this rare and little-known entity.

Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients.

Complement system is a part of innate immunity, its main function is to protect human from bacterial infection. As genetic disorders, complement deficiencies are often diagnosed in pediatric population. However, complement deficiencies can also be revealed in adults but have been poorly investigated. Herein, we describe a case series of infections revealing complement deficiency in adults to study clinical spectrum and management of complement deficiencies.A nationwide retrospective study was conducted in French university and general hospitals in departments of internal medicine, infectious diseases enrolling patients older than 15 years old who had presented at least one infection leading to a complement deficiency diagnosis.Forty-one patients included between 2002 and 2015 in 19 different departments were enrolled in this study. The male-to-female ratio was 1.3 and the mean age at diagnosis was 28 ±â€Š14 (15-67) years. The main clinical feature was Neisseria meningitidis meningitis 75% (n = 31/41) often involving rare serotype: Y (n = 9) and W 135 (n = 7). The main complement deficiency observed was the common final pathway deficiency 83% (n = 34/41). Half of the cohort displayed severe sepsis or septic shock at diagnosis (n = 22/41) but no patient died. No patient had family history of complement deficiency. The mean follow-up was 1.15 ±â€Š1.95 (0.1-10) years. Half of the patients had already suffered from at least one infection before diagnosis of complement deficiency: meningitis (n = 13), pneumonia (n = 4), fulminans purpura (n = 1), or recurrent otitis (n = 1). Near one-third (n = 10/39) had received prophylactic antibiotics (cotrimoxazole or penicillin) after diagnosis of complement deficiency. The vaccination coverage rate, at the end of the follow-up, for N meningitidis, Streptococcus pneumonia, and Haemophilius influenzae were, respectively, 90% (n = 33/37), 47% (n = 17/36), and 35% (n = 14/34).This large study emphasizes that complement deficiencies can be revealed in adults by infectious episodes. Most of them were meningococcal infections revealing common final pathway deficiency. To avoid undiagnosis or late diagnosis, adult displaying first episode of N meningitidis infection should be tested for complement deficiency.