Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by mutations in over 50 genes that impair the structure and function of motile cilia. To our knowledge, genetically confirmed cases of PCD were not documented in Morocco. The aim of our study is to provide a preliminary overview of patients with genetically confirmed PCD. Methods: We conducted a prospective study between January 2022 and December 2024 on 135 patients with recurrent respiratory infections. After excluding major differential diagnoses, all patients underwent clinical, radiological, and genetic evaluations. Whole-exome sequencing targeted 42 PCD and 429 immunodeficiency related genes, with uncertain variants analyzed bioinformatically and clinically correlated. Results: Seven patients predominantly from consanguineous families were confirmed to have PCD homozygous variants in PCD associated genes, including DNAH11, CCDC39, DNAH5, RSPH4A, RSPH9, and DNAH9 with three novel mutations. Notably, two patients also exhibited features of primary immunodeficiency: one with a variant in NFKB 2 and another with Wiskott-Aldrich syndrome, highlighting a rare but significant association with PCD. No cases of situs inversus were observed. Conclusions: This study highlights the under diagnosis of PCD in Morocco and the importance of integrating genetic testing into routine diagnostic protocols, particularly in populations with high rates of consanguinity. These are the first genetically confirmed PCD cases reported in Morocco, with no single predominant gene identified and variable clinical presentations.

Immunological Thrombocytopenic Purpura or ITP is the most common benign blood disease in pediatrics. The aim of this work is to analyze the epidemiological, clinical, paraclinical and etiological profile of Primary and secondary immune thrombocytopenia. It is a retrospective study over a period of four years from September 2017 to September 2021, collecting all cases of immunological thrombocytopenic purpura hospitalized in hematology pediatric unit at the Abderrahim Harouchi Children’s Hospital in Casablanca. 135 patients with ITP were hospitalized in this period including 76 boys (56.3%) and 59 girls (43.7%). The average age was 5.8 years (1 month -14 years). According to Buchanan bleeding score, 3.4% of the patients were grade 0, 9.6%, were grade 1 and 39.2% of the patients were grade 2, 41.5 % of the patients were grade 3, 5% in grade 4 and only 1 case was in grade 5. Etiologically, 86% of primary ITP and 14% of secondary ITP were recorded. The etiological assessment revealed 9 cases of Helicobacter pilori infection, 6 cases of immune deficiency (5 cases of WISKOTT ALDRICH and 1 case of ALPS) and4 probable cases of systemic lupus erythematosus. Patients were treated with either corticosteroids or intravenous immunoglobulin (IgIV). The trend was towards acute ITP in 85 cases (63%), persistent and chronic ITP in 50 cases (37%). For a better management of chronic and persistent ITP a complete etiological assessment is essential. This will allow to propose an etiological treatment and therefore an improvement of thrombocytopenia.

Introduction: Leukemia is a malignant proliferation of lymphoid cells blocked at an early stage of their differentiation that can invade the bone marrow, blood, and extramedullary sites. It is due to an underlying genetic alteration that affects many genes that encode proteins and play a crucial role in developing lymphoid cells. The study’s objective is to determine the role of the standard karyotype and molecular biology for the diagnosis of ALL. Patients and methods: We conducted a retrospective study over 13 years, between January 2006 and December 2019, at the hemato-oncology unit at Abderrahim Harouchi’s university children’s Hospital in Casablanca. All the patients diagnosed with ALL de Novo during this period were included in this study. Their data were collected from the oncology unit’s registry, and the medical information were extracted from the files. Statistical analysis was performed. Their results were discussed and compared to the literature data in the diagnosis part. However, patients who died before chemotherapy or were transferred to another facility were excluded from the outcome analysis. Results We conducted a retrospective study over 13 years, between January 2006 and December 2019, at the hemato-oncology unit at Abderrahim Harouchi’s university children’s Hospital in Casablanca. An unsuccessful karyotype was observed in 24.7%, whereas a successful karyotype was found in 75.3 % of our patients. In the latter normal karyotype was observed in 54%, and an abnormal one was retrieved in 46%. Numeral abnormalities were found in 48% of the cases (especially hyperdiploidy). Structural abnormalities were observed in 36% of the cases, and complex karyotype in 16% of the cases. The relapse risk among patients with unsuccessful standard karyotype after the first line of chemotherapy was higher than in the group with a successful one. Discussion: Compared to the literature, the findings contribute widely to the diagnosis of successful karyotype and help to adjust the risk group, adapt the treatment and improve the outcome in children with ALL. The unsuccessful standard cytogenetic was observed with a significantly higher risk of relapse and death in the statistical analysis in this group of patients. Those results suggest the use of molecular cytogenetics such as FISH, RT-PCR, and SKY to go beyond the limits imposed by the resolution of the banding and reveal cryptic anomalies essentially in unsuccessful standard cytogenetic cases to find out the underlying genetic abnormality that might refine the diagnosis and improve the prognosis in children with leukemia. Conclusion: Standard cytogenetics is useful for the diagnosis and needs to be completed by molecular cytogenetics to refine the diagnosis, especially in unsuccessful cultures.