Anaplastic Large Cell Lymphoma ALK-Negative: About a Rare Pediatric Case Report

Introduction: Anaplastic Large Cell Lymphomas (ALCL) are rare in childhood but clinically aggressive. The contemporary World Health Organization (WHO) classification of hematologic malignancies recognizes two distinct subtypes of systemic ALCL: Anaplastic Lymphoma Kinase (ALK)-negative, and ALK-positive. Case report: We report a rare pediatric observation of cutaneous nodule revealing an Anaplastic Large Cell Lymphoma (ALCL) ALK - cutaneous, muscular and ganglionic. It was classified according to who classification, treated by polychemotherapy with good outcome. Conclusion: ALCL encompasses several distinct clinicopathologic entities with unique genomic under printing. This rare pediatric observation of ALCL presents a new discussion on a pathology still incompletely known.

Simple Virilizing Congenital Adrenal Hyperplasia: A case Report of Sudanese 46, XY DSD male with G293D variant in CYP21A2

Congenital Adrenal Hyperplasia (CAH) is a family of inherited disorders that constitute the largest group of Disorders of Sexual Development (DSDs). The classical CAH has two types; the salt-wasting (SW-CAH) and the simple virilizing (SV-CAH). This study is a report of an SV-CAH regarding 46, XY DSD Sudanese male with early signs of puberty at the age of six years. We designed a customized panel that included 48 genes associated with Disorders of Sexual Development (DSDs) and using Next Generation Sequencing (NGS) technology, detected the pathogenic G293D alteration in the CYP21A2 gene. This variant has been reported in the salt-wasting (SW) form of 46, XX CAH.

Recurrent Hemolytic Anemia as an Inaugural Manifestation of Wilson Disease in Children: A Case Report

Wilson disease (WD) is a disorder of copper metabolism. Liver and brain disorders are the main presentations, hemolytic anemia in WD is a rare inaugural symptom. We report a case of a child who developed recurrent hemolytic anemia associated with liver failure in the second hemolysis episode as the first manifestation of WD. Wilson's disease is not exceptional in children with hemolytic anemia, but another differential diagnosis must be excluded.

Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots

Introduction: GM1-gangliosidosis is an inherited metabolic disease caused by mutations in the GLB1 gene resulting in deficiency of β-galactosidase. Three forms have been identified: Infantile, juvenile, and adult. The infantile type progresses rapidly and aggressively and a delayed diagnosis hampers the prevention of many neurological deficits. This delay in diagnosis may be due to the variability of clinical expression of the disorder. Hypothesis: Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1-gangliosidosis and mucopolysaccharidosis. Only symptomatic treatments are available for GM1-gangliosidosis; research is underway. Observation: In this article, we report a case of infantile GM1-gangliosidosis revealed by slate-grey Mongolian spots, a rare condition in Morocco, and a review of the literature. Conclusion: The finding of persistent and extensive slate-grey mongolian spots in infant could lead to early detection of GM1-gangliosidosis before irreversible organ damage occurs.