Omenn syndrome: the drama of a family, congenital ichthyosis is not always mundane!

Background: The case we are reporting is about one of the rare manifestations of severe combined immunodeficiency, Omenn syndrome (OS). Case presentation: A 43-days-old female presented with thick diffuse erythrodermic scaly ichthyosiform lesions on the scalp, face, and trunk since birth. lymphadenopathy, splenomegaly, and growth retardation as well as eosinophilia and increased serum IgE levels. A pregnancy was planned for an allograft of bone marrow, but the procedure was not carried out due to a persistent post-covid pneumopathy with bilateral parenchymal condensation that resulted in death. Conclusion: This case report intends to incite clinicians to be alert to this possible diagnosis and not to underrate an immune deficiency in the case of neonatal erythroderma

La varicelle n’est pas toujours bénigne

La varicelle est une maladie éruptive due au virus varicelle-zona qui touche essentiellement les enfants et dont l'évolution est habituellement bénigne. Cependant des complications de gravité variable peuvent être observées tel que les complications infectieuses bactériennes et les complications neurologiques. Nous rapportons deux observations de varicelle compliquée. Comme première observation, un nourrisson de 5 mois sans antécédents qui présente depuis six jours une éruption cutanée fait de vésicules et pustules, la symptomatologie s'est aggravée la veille de son admission au service par l'installation d'une détresse respiratoire. Comme deuxieme observation, une fillette de 7 ans, admise au service pour prise en charge d'une convulsion simple, et chez qui l'examen clinique a objectivé des cicatrices de varicelle généralisées et une ataxie cérébelleuse. Bien que la varicelle soit connue comme une affection virale commune, le plus souvent bénigne, plusieurs études ont récemment fait état d'une recrudescence de ses complications, qui semblent responsables de 0,2 à 1,5% des motifs d'hospitalisation des enfants atteints de varicelle

Atypical Kawasaki Disease in an Adolescent with Multivisceral Involvement

Kawasaki disease (KD) is a vasculitis mostly seen in children aged less than 5 years. It can involve different organs and tissues. Its diagnosis is based on the clinical criteria of the American Heart Association (AHA). We report a case of a Moroccan adolescent with an atypical presentation of KD initially treated as typhoid fever. Gastrointestinal, renal, and pulmonary signs were the main clinical findings that made the diagnosis of KD challenging and delayed. The consequence was a severe cardiac damage with myocarditis and coronary artery dilation. KD is uncommon in adolescents, and it is important to recognize the atypical forms and the different presentations of KD in order to prevent the delay of diagnosis and treatment, and hence the cardiac complications

Delayed presentation of duodenal diaphragm and annular pancreas in a 10-year-old girl: Case report

Congenital duodenal obstruction is a common cause of bowel obstruction. It is relatively easy to diagnose in the neonatal period. However, if the obstruction is due to a duodenal diaphragm, diagnosis may be delayed until later in infancy or even adulthood, depending on the size of the aperture in the diaphragm. Congenital duodenal obstruction may be associated with other gastrointestinal and biliary anomalies. The association of a duodenal diaphragm and a partial annular pancreas is a rare clinical entity. We present an unusual case of late presentation of duodenal diaphragm with partial annular pancreas in a 10-year-old girl with a 3-month history of abdominal distension and vomiting. The plain abdominal X-ray showed the classic picture of a double bubble. The CT images showed narrowing of the third duodenal portion and dilatation of the stomach and duodenum. The pancreatic tissue incompletely surrounded the second part of the duodenum. Intraoperatively, both the duodenal diaphragm and the partial annular pancreas were confirmed. Excision of the diaphragm and duodenoplasty were performed. A duodenal diaphragm should be suspected in patients with a history of abdominal distension and vomiting, even in late childhood. Associated gastrointestinal and biliary anomalies should always be excluded

Exceptional case of a hemangioma-like rabdomyosarcoma in the hand's palm

Rhabdomyosarcoma is a malignant tumor in children that might mimic a benign tumor, such as infantile hemangioma, particularly when detected early. Although rhabdomyosarcoma rarely occurs in the hand, its prognosis is generally poor, and successful treatment relies on a complete and radical surgical excision. We present a case of rhabdomyosarcoma located in the palm of an infant's hand, initially presenting clinical and radiological features suggestive of a vascular tumor. The resection of this mass was radical, and histological analysis and immunohistochemistry returned in favor of embryonic rhabdomyosarcoma. In similar cases recorded in the literature, the diagnosis may be first mistaken for that of a hemangioma, then confirmed by histology. This underlines the importance of a systematic anatomopathological examination of all tissues removed surgically

Morocco’s First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges

Background. Biobanks are highly organized infrastructures that allow the storage of human biological specimens associated with donors’ personal and clinical data. These infrastructures play a key role in the development of translational medical research. In this context, we launched, in November 2015, the first biobank in Morocco (BRO Biobank) in order to promote biomedical research and provide opportunities to include Moroccan and North African ethnic groups in international biomedical studies. Here, we present the setup and the sample characteristics of BRO Biobank. Methods. Patients were recruited at several departments of two major health-care centers in the city of Oujda. Healthy donors were enrolled during blood donation campaigns all over Eastern Morocco. From each participant, personal, clinical, and biomedical data were collected, and several biospecimens were stored. Standard operating procedures have been established in accordance with international guidelines on human biobanks. Results. Between November 2015 and July 2020, 2446 participants were recruited into the BRO Biobank, of whom 2013 were healthy donors, and 433 were patients. For healthy donors, the median age was 35 years with a range between 18 and 65 years and the consanguinity rate was 28.96%. For patients, the median age was 11 years with a range between 1 day and 83 years. Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. The BRO Biobank has collected 5092 biospecimens, including blood, white blood cells, plasma, serum, urine, frozen tissue, FFPE tissue, and nucleic acids. A sample quality control has been implemented and suggested that samples of the BRO Biobank are of high quality and therefore suitable for high-throughput nucleic acid analysis. Conclusions. The BRO Biobank is the largest sample collection in Morocco, and it is ready to provide samples to national and international research projects. Therefore, the BRO Biobank is a valuable resource for advancing translational medical research