bluuebunny/crossref_metadata_2025_split huggingface dataset:
58 Comparison of the 2015 pediatric diagnostic criteria for Behcet’s disease with the 2014 and 1990 International Study Group Diagnostic Criteria
Authors: El Ouassifi K , Sakhi A , Bouayed K , Zoukal S , Nani S 
Published: October 2022

Abstract

Background
Behçet's disease is a multisystem vasculitis whose pathogenesis remains unclear. Although usually described in young adults, it may begin in childhood. The diagnosis is clinical, based on international criteria. The limitations of early diagnosis are related to the progressive onset of symptoms and the variety of differential diagnoses at this age in the absence of a pathognomonic diagnostic test.

Objectives
To report the epidemiological features of our series and to compare the 2015 pediatric criteria with the 2014 and 1990 international criteria.

Materials and Methods
This is a monocentric, retrospective study of 31 children over an 11-year period from January 2011 to December 2021. All patients suspected with Behcet's disease by a pediatric rheumatologist were included in the study, the 2014 international criteria “ISG 2014” being the gold standard classification criteria used in our center.

Results
31 cases of Behcet's were collected. The mean age was 10 years (5.5–16) ± 2.87 years. A female predominance is noted with a sex ratio F/M of 1.21. A quarter of the patients were from a consanguineous marriage and 38.7% had a family history of Behcet disease. Mucocutaneous manifestations were represented by recurrent oral aphthosis 87.1%, genital aphthosis 29%, pseudofolliculitis 48.4%, erythema nodosum 6.5% and acne lesions 3.2%. The pathergy test was positive in 1 case. Ocular involvement was reported in 29% and joint involvement in 45.2%. Thromboembolic complication was seen in 9.6% and neurobehcet in one patient. The HLA B51 antigen was present in 45.2% of cases. In our series 38.7% respond the pediatric criteria, while 61.3% met the 2014 international criteria and 35.5% met the 1990 international criteria. The 2015 pediatric criteria have respectively a sensitivity and specificity of 63.2% and 100% (p = 0.002) compared with the 2014 international criteria taken as gold standard, as well as the 1990 international criteria with a respective sensitivity and specificity of 52.6% and 91.7% (p = 0.034).

Conclusion
Our study highlights a female predominance, a high rate of consanguinity and familial Behcet. The sensitivity and specificity of the 1990 pediatric and international criteria appear to be better than those of 2014, with a more significant trend for the 2015 pediatric criteria (p = 0.002).
59 Behçet disease with CNS thrombophlebitis
Authors: Boutrid N , Rahmoune H , Bioud B , Amrane M 
Published: October 2022

Abstract

Background
Behçet's disease is a peculiar vasculitis that affects both small and large vessels of the arterial and venous circulations.

Objectives
We present the case of two school-aged boys who presented with acute cerebral venous thrombosis, leading to the diagnosis of Behçet’s disease.

Case presentation
- An 8-year-old boy is admitted for severe headaches with nausea. The clinical examination notes a febrile child with marked aphtosis (with a history of genital “burns”). ESR and CRP are slightly elevated, while cerebral CT angiography reveals superior sagittal sinus occlusion. Angio-MRI confirms thrombophlebitis.
- Another 9-year-old boy is referred for abdominal and spinal pain with intense headaches; accompanied with a subacute fever for &gt;15 days. CT angiography revealed (reveals) stenosis of the longitudinal sinuses.
For both children, the pathergy test, skin biopsy, and ophthalmic examination completed the whole picture of the Behçet disease.

Discussion
Major vascular manifestations of Behçet's disease include venous and/or arterial occlusion and aneurysm.
Cerebral venous thrombosis (CVT) is very particular and might lead to an intracranial hyper-pressure, as in our cases.
Steroids remain the initial reference treatment, with particular attention to anticoagulation and the addition/relay with colchicine.

Conclusion
Cerebral venous thrombosis may reveal Behçet's disease, especially in the pediatric population.
The prognosis is poor and requires a rigorous, multidisciplinary follow-up.
62 Rachialgia of difficult diagnosis: an unusual clinical form!
Authors: Yettou S , Hafirassou N , Dahou-Makhloufi C 
Published: October 2022

Abstract

Background
Spinal pain is a frequent symptom whose aetiology can be extremely varied. It is not only the prerogative of adults; it is frequent in children and particularly in adolescents.
Inflammatory spinal pain is a warning sign that should prompt further investigations to rule out an underlying pathology such as infectious spondylodiscitis, malignant pathology, ankylosing spondylitis or SAPHO syndrome.
In this case, we report on a 15-year-old child with uncommon inflammatory spinal pain that caused diagnostic difficulties.

Observation
The child B.A., aged 15 years, with no previous history, consulted for inflammatory back pain that had been evolving for &gt;3 months in a context of apyrexia and conservation of the general state, associated with pain of the anterior thoracic wall. The clinical examination revealed an exaggerated dorsal kyphosis, a lumbar spinal syndrome. The rest of the joint examination was without abnormalities and the somatic examination revealed a retention acne. Biologically, there was no inflammatory syndrom, brucella serology and tubeculin TST were negative.
An X-ray and a CT scan of the dorsal-lumbar spine showed multiple bone erosions of the vertebral plates and a fracture of the T6 and T7 vertebrae with global disc pinching, without recession of the posterior wall or damage to the soft tissues and with exaggeration of the dorsal cyphosis at this level. The spinal MRI revealed a spondylodiscitis with hypo T1 hyper T2 signal at the T6-T7 level without any collection. An osteolytic lesion of the sternal manubrium lateralized to the left with blurred contours was objectified by the CT scan of the anterior chest wall. Bone scans revealed intense hyper fixation foci at the T6-T7 level and the sternal manubrium. MRI of the sacroiliac joints was normal. A scan-guided biopsy of the T6-T7 level did not show any specific lesion. In view of the inflammatory spinal pain, the anterior chest wall pain, the negativity of the biological tests and the imaging data, the diagnosis of incomplete SAPHO syndrome was retained after having ruled out other etiologies. SAPHO syndrome is a rare entity that refers to the association of a heterogeneous set of cutaneous and osteoarticular manifestations with a common denominator of an aseptic inflammatory process. It remains a diagnosis of elimination.

Conclusion
Spinal pain in children can be a symptom of multiple etiologies and sometimes poses a diagnostic problem. This is a particular observation and deserves to be reported because unusual clinical forms of SAPHO syndrome exist and should not be ignored.
63 Dental aspects in osteogenesis imperfecta type IV
Authors: Boutrid N , Rahmoune H , Bioud B , Amrane M 
Published: October 2022

Abstract

Background
The term “dentinogenesis imperfecta” includes dental anomalies quite similar to hereditary opalescent dentin and osteogenesis imperfecta.
We present dental findings in a boy with osteogenesis imperfecta type IV

Case Presentation
A young boy was referred to the pediatric department for management of vertebral compression and a recurrent femoral fracture without obvious trauma.
The appearance of his teeth with the overall assessment of this patient reveals dentinogenesis imperfecta compatible with osteogenesis imperfecta type IV, associated with major vertebral involvement

Discussion
Osteogenesis imperfecta (OI), also known as also known as « brittle bone disease » is a heterogeneous group of rare genetic diseases involving connective tissue.
A reduction in the amount of normal collagen leads to Type I, while qualitative and quantitative abnormalities in collagen synthesis lead to Types II, III and IV of OI.
This type IV is subdivided into groups A and B: the group B depicting the characteristic dentinogenesis imperfecta like in our patient.

Conclusion
Dentinogenesis imperfecta is a major sign of osteogenesis imperfecta. Skeletal phenotype, scleral colour and deafness complete the picture allowing the final classification of this inherited disorder
The peculiar bone lesions with normal dental aspects are highly suggestive of the extreme rare osteogenesis imperfecta type IV.
64 Conical teeth? Think outside the box!
Authors: Boutrid N , Rahmoune H , Bioud B , Amrane M 
Published: October 2022

Abstract

Background
Ectodermal dysplasias (ED) are inherited disorders involving congenital abnormalities of different ectodermal structures, the most prominent presentation being adontia/hypodontia
In this article, we present a brief overview of several pediatric cases of ED with a short review of the odontological manifestations.

2. Case reports
We report several cases of children consulting in the pediatric department for abnormal teeth, with or without systemic manifestations.
The clinical examination of these patients revealed insufficient and abnormal dentition, with rare beveled teeth and thin and rare hair, as well as eyelashes and eyebrows.
Also, parents reported episodes of hyperthermia without sweating from an early age.
Dental radiography confirmed the diagnosis of ectodermal dysplasia.

3. Discussion
Ectodermal dysplasias (EDs) are a group of various inherited disorders involving abnormal congenital development of at least two ectodermal structures (hair, nails, teeth, and sweat glands). The management of these rare disabling conditions is still mainly symptomatic. The traditional removable prosthesis can be an option to replace missing teeth. However, implants provide the best long-term results and prognosis. In particular, dental implants are commonly used in oral reconstruction of ED patients, but long-term data on bone augmentation and bone resorption, aesthetic outcomes, and implant success are needed.

4. Conclusion
EDs are a myriad of heterogeneous conditions encompassing several inherited embryopathies affecting teeth and other ectoderm-derived structures in utero.
Diagnosis is essentially clinical, confirmed by radiology and genetics which can specify the causal mutation; treatment is mainly conservative.
65 First francophone e-learning of pediatric rheumatology in Africa: the trainers’ opinion
Authors: Ines Cherif , Hanene Ferjani , Ichrak Khamessi , Kaouther Maatallah , Rahma Guedri , Saoussen Miladi , Monia Ben Khaled , Alia Fazaa , Manel Jallouli , Kaouther Ben Abdelghani , Monia Khemiri , Zohra Fitouri , Wafa Hamdi 
Published: October 2022

Abstract

Background
Pediatric Rheumatology is currently gaining importance across Africa. Initiatives such as the creation of the paediatric society of the African league against rheumatism (PAFLAR) proved the efforts made to bridge the insufficiency. In the same line, training in pediatric rheumatology remains the main challenge of this orphan subspecialty. For this purpose, a post-graduate certification in Pediatric Rheumatology was created in 2021 in the Faculty of Medicine of Tunis—Tunis-El Manar University. It is the first online certification dedicated to French speakers in Africa. The certification is entitled “musculoskeletal diseases of children and adolescents”.

Objective
To assess the learners' perceptions and views of this certification.

Methods
We established an online survey targeting the participants. The questionnaire was divided into three main sections: the first section examined the participant characteristics: their specialty, the use of the Moodle platform of the Virtual University of Tunis (UVT), their previous participation in an online post-graduation course, etc.). The second section focused on platform acceptability. The third and final section evaluated the content of the course. The Likert scale was used in most questions.

Results
Fifteen participants responded to the survey. Among them, one is specialized in family medicine, 1 in orthopedics, 5 in pediatrics, and 8 in rheumatology. Fifty-three percent have never used the platform of the virtual university of Tunis (UVT) before, and 26.7% have never attended an online course. Most participants found the platform easy to access and easy to use with a mean Likert scale of 2.2 and 2.13, respectively. In the third section of the questionnaire, the course met the expectations of the candidates with a mean Likert scale of 2.1. Most of them found the post-test useful to their learning experience, and only two found it to be the opposite. This can be explained by the pressure that it may generate. Eighty-six percent of the candidates had an interactive experience with the educator and enjoyed the interactions and the discussions between the participants. Most participants were pleased with the seminar organization and with the number of h devoted to each seminar (mean Likert Scale = 2.1). Eighty-six percent of the participants have found that the course improved their medical practice and 93.3% confessed that they were satisfied with the online nature of the certification and did not wish it to be physical.

Conclusion
Overall, the post-graduate “musculoskeletal diseases of children and adolescents” course was beneficial and enriching/rewarding for the participants.
Developing this training program helps to promote pediatric rheumatology in Africa and to provide children with rheumatic diseases access to healthcare.
72 Distinguishing features of MIS-C to other paediatric febrile diseases in the acute setting
Authors: Butters Claire , Spracklen Timothy , Stander Raphaella , Day Jonathan , Facey-Thomas Heidi , Zuhlke Liesl , Scott Christiaan , Webb Kate 
Published: October 2022

Abstract

Background
Multisystem inflammatory syndrome in children (MIS-C) presents with fever, shock, rash, abdominal pain and raised inflammatory markers, as well as common features of inflammatory childhood illnesses. In the acute setting, especially in countries where infectious diseases are common differential diagnoses, it is challenging to diagnose MIS-C. Therefore, data differentiating MIS-C from other inflammatory and/or febrile diseases at presentation is needed.

Methods
Prospective data was collected from children admitted to the Red Cross War Memorial Children’s Hospital in Cape Town, South Africa from May 2020 to end November 2021 where MIS-C was part of their differential diagnoses. Clinical features on the day of admission were compared between children with confirmed MIS-C (MIS-C+) and those with alternate diagnoses (MIS-C-).

Results
In this time period, 60 children were MIS-C+ and 34 were MIS-C-. There was no significant difference in age (p = 0.321), sex (p = 0.525), ethnicity (p = 0.279), or in the frequency of comorbidities (p = 0.151) between the two groups. The presence of conjunctivitis (OR = 8.12), rash (OR = 8.67), tachycardia (OR = 2.8) and oral mucositis (OR = 3.75) was associated with MIS-C+ while abdominal pain and hypotension were not. MIS-C+ had statistically higher median C-reactive protein (CRP), pro-brain natriuretic protein (pro-BNP) and ferritin, and lower median lymphocyte count, platelet count and sodium levels than MIS-C-. Ferritin discriminated MIS-C+ well (AUC = 0.86) with a 94% sensitivity and 60% specificity at a cut off of &gt; 195ng/l. Sodium had an AUC of 0.72, with a 70% sensitivity and 71% specificity at a cut off of &lt; 132.5 mmol/l. CRP did not distinguish MIS-C well (AUC = 0.52) and although they had good AUC, platelet count and pro-BNP had cut off values in the normal range decreasing clinical utility.

Conclusion
We provide evidence for the use of accessible clinical and laboratory variables for the diagnosis of MIS-C in diverse settings.

Implications
These data will aid clinicians to do a rapid diagnosis (and ultimately treat earlier) of patients with MIS-C in the acute setting, especially those in under-resourced settings.
73 Joint pains revealing a dysautonomic syndrome
Authors: Boutrid N , Rahmoune H , Boutrid H , Bioud B , Amrane M , Chehad A.S 
Published: October 2022

Abstract

Background
Primary dysautonomia is a disorder of the autonomic nervous system with nonspecific manifestations, mainly affecting blood pressure and heart rate.

Objective
We report the diagnostic odyssey in an 11-year-old girl starting with arthralgia and leading to the final diagnosis of a rare dysautonomia.

Methods
A 13-year-old girl, with no pathologic history, was admitted to pediatrics for diffuse arthralgia without clinical inflammatory signs.
Biological exploration unmasked a morning proteinuria without hypoalbuminemia and with a normal electrophoretic profile, microcytic anaemia and orthostatic hypotension authenticated during his hospitalization.
Exhaustive explorations were undertaken (including autoimmune panel, ophthalomological examination, full metabolic screen and even renal biopsy), without any conclusive result.

Results
The development—after one year of follow up—of arterial hypertension, associated with orthostatic hypotension and proteinuria, points toward the extremely rare defect in baroreceptors.
The management, in collaboration with the cardiology department, enhanced the patient’s quality of life with a reduction in hypertensive peaks. An appropriate lifestyle also amended the intensity of orthostatic hypotension.
The close multidisciplinary follow-up over &gt;48 months is reassuring.

Conclusion
The peculiar baroreceptor defect in a context of dysautonomia should be kept in mind in the (long) list of differential diagnosis of arthralgias, as joint pain can be triggered by dysautonomia. Management is mainly symptomatic.
74 Hereditary angioedema revealed by compartment syndrome
Authors: Boutrid N , Rahmoune H , Boutrid H , Bioud B , Chehad A.S , Amrane M 
Published: October 2022

Abstract

Background
Hereditary angioedema (HAE) can present with a wide spectrum of clinical symptoms, including articular features like the compartment syndrome.

Objective
We present the peculiar case of a young female patient suffering from this rare complement system disorder and presenting as a « wrist oedema ».

Methods
A 14-year-old girl was admitted in the emergency room during a night shift. She presented with acute compartment (wrist) syndrome due to edematous compression of the median nerve, associated with a typical personal history of HAE. It resolved within 6 h with IV steroids and hyperhydration.
The quantitative and qualitative C1 INH esterase returning negative, the diagnosis of HAE type III was made.
The patient was treated with long-term treatment based on Danazol, (the most frequently prescribed attenuated androgen to treat HAE).

Results
HAE is due to the deficiency or dysfunction of the C1 inhibitor protein (quantitative or qualitative deficiency). A new nomenclature has replaced the initial use of denominations HAE type 1, 2 or 3; to speak rather of HAE with a deficient C1 inhibitor (type 1), with a dysfunctional C1 inhibitor (type 2) or with a normal C1 inhibitor (type 3)
Type 3 HAE is rare and difficult to treat. It may respond to anti-estrogenic drugs such as progestins and especially to androgens; specific (very expensive) molecules do exist and act directly on the bradykinin pathways

Conclusion
A compartment syndrome may reveal extremely rare conditions such as hereditary angioedema.
Early recognition and management are the guarantee of a preserved functional prognosis.
78 Transient neonatal Behçet’s disease: a case report
Authors: Hatem Rouag , Marwa El-Ouaer , Salma Dhouib , Zaineb Ben Mohamed , Ghofrane Bedoui , Siwar Abdelmoula , Hayet Ben Hmida , Kamel Monastiri 
Published: October 2022

Abstract

Background
Behçet’s disease (BD) is a systemic vasculitis of unknown aetiology. The disease usually affects patients in the 3rd life decade and is rare in pediatrics. A very rare clinical form of Behçet's disease occurs during neonatal period.

Observation
We report a case of a term neonate presenting with oral and genital ulcerations appeared at the age of 7 days. The mother had a history of Behçet’s disease and antiphospholipid antibody syndrome (APLS) diagnosed at the age of 20 years, characterized by severe recurrent orogenital ulceration and complicated by thrombophlebitis and mycocarditis. She was treated with colchicine, corticoids during the attacks and an antiplatelet treatment. Also, the siblings of the neonate (2 sisters and one brother) had the same symptoms in the neonatal period and developed disfiguring scars since they were treated as herpes by antiviral therapy. Family history, clinical course and negative laboratory results, suggest the diagnosis of transient neonatal BD. The treatment with systemic and local corticoids was effective. The neonate didn’t develop scars, neurological or vascular symptoms. The antibodies anti-nuclear and HLAB51 were negative.

Conclusion
Transient neonatal Behçet’s disease (BD) is a rare secondary neonatal autoimmune condition. The transmission from mother to fetus is still unclear. It is thought to be transmitted by an immune mechanism. However, the causative antibodies for neonatal BD have not been identified. Corticosteroid is recommended after diagnosis in order to avoid scars
82 Juvenile dermatomyositis with early-onset anti-MDA 5 antibodies: a case report
Authors: Ayad N , Gherbi M , Gacem O , Falek H , Labboun L , Amirat L , Chouli M , Abba K , Benmakhlouf H , Achir M , Ladj M. S 
Published: October 2022

Abstract

Background
Juvenile dermatomyositis (JDM) is a very rare inflammatory myopathy with an approximate incidence of 2–4 per million. The discovery of specific circulating autoantibodies present in about 60% of cases has allowed them to be classified according to their clinical and immunological expressions and their therapeutic response. Anti-Melanoma differentiation associated gene5 (MDA5) antibodies seem to be correlated with a particular clinical phenotype associating cutaneous, respiratory, and articular involvement and most often sparing the muscles.

Observation
We report the case of an early-onset anti-MDA 5 JDM in a 27-month-old girl. The first symptoms appeared at the age of 18 months and consisted of a skin rash and muscle weakness complicated 6 months later by generalized oedema. The child received symptomatic treatments without improvement. At 27 months of age, the child worsened and was admitted for respiratory distress. On clinical examination, she presented with fever and general deterioration, respiratory impairment with swallowing problems, skin damage with specific ulcerations, very significant generalized oedema, and severe muscle damage with axial hypotonia and myogenic EMG tracing. The inflammatory workup was positive and the autoimmune workup revealed 1/320 speckled antinuclear antibody (ANA) and positive anti-MDA5 anti bodies. Chest CT scan showed right interstitial lung disease. The diagnosis of anti-MDA5 JDM was retained and the child was treated with corticosteroids pulses associated with immunoglobulins and methotrexate (MTX) leading to a clear improvement. Corticosteroids and MTX were maintained on a long-term basis.

Discussion
The prevalence of anti-MDA5 anti bodies is variable and depends on ethnic origin (7% in an English cohort vs 38% in the Japanese cohort). These antibodies seem to be specific to a particular phenotype of DM associating skin involvement, interstitial lung disease with little or no muscle involvement. The originality of this observation lies in the early age of onset of JDM and in the fact that it expresses the anti-MDA5 antibodies. The skin and muscle involvement was prominent in our patient, while the pulmonary involvement, although not rapidly progressive, justified the combination of bolus methylprednisolone, MTX and immunoglobulins. Despite the delay in diagnosis, we noted a good therapeutic response and stabilization of the disease.

Conclusion
Anti-MDA 5 antibodies must be identified as soon as JDM is diagnosed; their presence is a risk factor for severe lung damage, which must be systematically investigated and treated to improve the prognosis.