Nabais Sa-de Vries syndrome (NSDVS) is a neurodevelopmental disorder first described in 2020. The syndrome is caused by de novo missense mutations in speckle-type pox virus and zinc finger protein (SPOP) on chromosome 17q21. In this report, we present a four-year-old girl who had microcephaly, a long face, a wide and thick arched eyebrow, widely spaced eyes, a prominent and wide nasal bridge, a wide and bulbous nasal tip, micrognathia and pointed chin. She also had microcytic hypochromic anemia. Her clinical features are suspected of NSDVS1 and thalassemia along with refractory iron deficiency anemia. Genetic evaluation confirmed the presence of both SPOP and hemoglobin gene mutations. The concurrence of both genetic mutations and above hematological manifestations has not been reported previously thus further studies are needed to better understand the associated mechanisms and disease course involved.

Appendiceal neuroendocrine tumors (NET) although rare, but the most common tumors of the gastrointestinal tract in children and adolescents. NET of the appendix is typically undiagnosed preoperatively, are usually not associated with specific neuroendocrine symptoms, and a high percentage are initially identified by pathologists.For well-differentiated tumors of ＜1 cm and complete (R0) resection, no follow-up is required. Unlikely, tumor size ＞2 cm or tumor with high-risk features confer a relevant risk of recurrence and further imaging and surgical procedures are warranted.No consensus, clear recommendation or management guidelines are available for the management of appendiceal NET in children. Herein, current article will provide an overview of literature and suggested guidelines for evaluation and management of childhood neuroendocrine tumors of appendix.

We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe microcytic/hypochromic anemia she received multiple packed RBCs transfusions. She subsequently developed hepatomegaly, hypothyroidism, diabetes, liver cirrhosis and latterly, a severe cardiomyopathy due to significant iron overload refractory to regular chelating agents. Genetic study was offered, confirmed the presence of SLC25A38 gene mutation and her diagnosis was revised to pyridoxine refractory sideroblastic anemia (PRSA). It is a non-syndromic, autosomal recessive disorder, characterized by severe microcytic anemia since infancy and increased serum ferritin, which is not responsive to pyridoxine. Since the clinical course of this disorder is very similar to that of thalassemia major and other red cell aplasia. Prompt recognition and initiation of appropriate treatment are important to reduce the development of secondary disease complications due to iron overload. Given the potential for misdiagnosis and delay in the recognition of sideroblastic anemia, a careful bone marrow examination and genetic study should be included while investigating children with unexplained anemia.