L’accident ischémique cérébral chez le sujet jeune: à propos de 6 cas

Les accidents ischémiques cérébraux (AIC) du sujet jeune se caractérisent par une panoplie d'étiologies  différentes de celles des accidentsvasculaires cérébraux  (AVC) du sujet âgé d'où l'intérêt de bien creuser  devant une telle atteinte à la recherche surtout d'une thrombophilie ou d'une cardiopathie emboligène.   Cependant,  I'il ne faut pas négliger une exposition de plus en plus accrue du sujet jeune à des facteurs de risque cardio-vasculaires tel le tabagisme qui accélère le  processus  d'athérosclérose, étiologie principale d'AVC tout âge confondu. Nous avons rétrospectivement collecté les données de six patients âgés de moins de 45 ans qui ont été hospitalisés dans notre service pour un AIC. La moyenne d'âge était de 35,3 et les hommes  représentaient 16% de notre série. L'enquête  étiologique a conclu à un syndrome des anticorps  antiphospholipides secondaire à un syndrome de Gougerot Sjögren chez l'un des patients, un déficit en protéine S chez deux patients et un syndrome de Sneddon chez un autre. Les causes d'AIC n'ont pas été identifiées dans les deux autres cas. Un traitement à base d'anti-vitamines K ou d'antiagrégants plaquettaires a été instauré en cas d'étiologie révélée.Key words: Accident ischémique cérébral, sujet jeune, diagnostic, étiologies, traitemen

ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia

In this study, Forty-one out of fifty-seven Tunisian children with B-lineage acute lymphoblastic leukemia (B-ALL), and without cytogenetically detectable recurrent abnormalities at the time of the diagnosis, were evaluated by fluorescence in situ hybridization (FISH) for the t(12;21). This translocation leads ETV6-RUNX1 (previously TEL-AML1) fusion gene. 16 patients (28%) had ETV6-RUNX1 rearrangement. In addition to this rearrangement, two cases showed a loss of the normal ETV6 allele, and three others showed an extra signal of the RUNX1 gene. Seven patients without ETV6-RUNX1 rearrangement showed extra signals of the RUNX1 gene. One out of the 7 patients was also associated with a t(3;12) identified by FISH. This is the first Tunisian study in which we report the incidence of t(12;21) among childhood B-lineage ALL and in which we have found multiple copies of RUNX1. Finally, our findings confirm that additional or secondary genetic changes are commonly encountered in pediatric B-lineage ALL with ETV6-RUNX1 gene fusion which is envisaged to play a pivotal role in disease progression

Acute Pancreatitis in Children with Acute Lymphoblastic Leukemia Using L-Asparaginase: A Review of the Literature

L-asparaginase (L-Aspa) is utilized as a part of the therapy in children with acute lymphoblastic leukemia (ALL), achieving remission in 83–95% of the younger patients. Hypersensitivity reactions, as well as liver and pancreatic cytotoxicity, are severe documented side effects. L-Aspa-induced acute pancreatitis (AP) has been observed in 2.5–16% of treated patients. Patients with mild pancreatitis may be retreated with L-Aspa if they have no clinical symptoms within 48 hours, amylase and lipase levels are less than three times the normal’s upper limit, and there is no evidence of pseudocysts or necrosis on imaging. It is crucial to monitor patients under L-Aspa therapy, through careful observation of clinical signs and laboratory follow-up, as well as a continuous checkup for associated medications

Molecular study of the perforin gene in familial hematological malignancies

Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81). Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense substitution was identified in two related Tunisian patients. In order to assess the pathogenicity of this new variation, bioinformatic tools were used to predict its effects on the perforin protein structure and at the mRNA level. The segregation of the mutant allele was studied in the family of interest and a control population was screened. The fact that this variant was not found to occur in 200 control chromosomes suggests that it may be pathogenic. However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein

A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy

The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration

Acquired hemophilia A following COVID-19 vaccine: a case report

Abstract Background In the literature, reported cases of Acquired hemophilia A (AHA) induced by COVID-19 vaccination occurred after Adenoviral Vector Deoxyribonucleic Acid (DNA)- and SARS-CoV-2 Messenger Ribonucleic acid (mRNA)-Based vaccines. Here, and to the best of our knowledge, we report the first case of AHA occurring after an inactivated Sinovac-coronavac COVID-19 vaccine. Case presentation A 69-year-old Tunisian male patient consulted for severe left leg pain limiting physical mobility due to a 5*6 cm large ecchymosis located at the left inner thigh, having spontaneously appeared 5 days prior consultation and without notion of trauma. The patient had no known personal medical history. He had received the second dose of CoronaVac-SinoVac vaccine 30 days prior to consultation. Further physical examination revealed the presence of two other ecchymoses: one at the inner face of the right forearm, starting at the wrist reaching the elbow and the other at the left flank of the abdomen. Diagnosis of AHA was based on clinical presentation and confirmed with prolonged a PTT, Factor VIII deficiency and the presence of an FVIII inhibitor. The patient was successfully treated with corticosteroids and low dose Rituximab. Conclusion Clinicians should consider AHA in front of prolonged aPTT with or without spontaneous bleedings even after inactivated virus COVID-19