Schistosomiasis is an ancient disease still affecting more than 200 million people worldwide; calcified Schistosome eggs were discovered in Egyptian mummies (1200-900 BC). A 25-year-old man presented to the emergency department with heartburn. He immigrated to the United States from Sub-Saharan Africa. His physical exam revealed hepatosplenomegaly, and he was eventually diagnosed with Schistosomiasis.

Acute lymphoblastic leukemia (ALL) is the most prevalent pediatric malignancy, accounting for approximately 25% of childhood cancers. Despite significant advancements in treatment protocols, ALL remains a complex disease, often presenting with various complications, including the rare metabolic disturbance of type B lactic acidosis. This case report details the clinical journey of a 14-year-old female with ALL who developed type B lactic acidosis during treatment. The patient presented with intermittent fever, abdominal pain, jaundice, and hepatosplenomegaly, accompanied by severe anemia and thrombocytopenia. Initial management included supportive care and chemotherapy initiation. Despite aggressive interventions, the patient\'s condition deteriorated, with escalating lactic acidosis and respiratory distress, leading to a critical need for tailored management strategies. This report underscores the importance of early recognition and comprehensive management of type B lactic acidosis in pediatric ALL, highlighting its multifactorial etiology and potentially life-threatening consequences. Enhanced clinical awareness and a multidisciplinary approach are crucial for improving outcomes in such complex cases.

Deficiency of adenosine deaminase 2 is a rare monogenic multi-organ disease of children and less often adults resulting from mutations in the adenosine deaminase 2 gene. We present a case of a 35-year-old Palestinian male with adenosine deaminase 2 deficiency and maturity-onset diabetes of the young type 2. The patient initially presented with complaints of swelling in his neck and night sweats, leading to a diagnosis of Hodgkin lymphoma. Subsequent evaluation revealed a recurrence of Hodgkin lymphoma, along with symptoms of otitis media, upper respiratory tract infection, and a rash around the mouth. Genetic testing confirmed mutations in the adenosine deaminase 2 gene and glucokinase genes, confirming the diagnosis of deficiency of adenosine deaminase 2 and maturity-onset diabetes of the young type 2, respectively. The patient was treated with Intravenous immunoglobulin, antiviral drugs, and oral hypoglycemic drugs, showing improvement in symptoms and laboratory tests. This case highlights the importance of considering rare genetic disorders in patients with unusual or refractory clinical manifestations, and the need for a multidisciplinary approach in such cases.

Niemann-Pick disease is a rare lysosomal storage, autosomal recessive disorder that impairs the body\'s ability to metabolize fats, thus leading to accumulation within cells. It can affect various organs, most commonly the brain, liver, spleen, bone marrow and lungs. Hepatosplenomegaly, inability to thrive and varying neurological deficits are the defining features. The three main types of Niemann-Pick disease are: NPD-A (Niemann-Pick disease type A), NPD-B (Niemann-Pick disease type B) and NPD-C (Niemann-Pick disease type C). NPD-A and NPD-B are due to enzyme acid sphingomyelinase deficiency, caused by SMPD-1 (Sphingomyelin phosphodiesterase 1) gene mutation and NPD-C is due to NPC-1 and NPC-2 (Niemann-Pick C1 and C2 protein) gene mutation. This is the case report of an 11-month-old infant who presented to OPD (Outpatient Department) with failure to thrive, abdominal distension and developmental delay. On examination the infant was emaciated, pale, had hepatosplenomegaly and developmental delay. Bone marrow and liver biopsy showed characteristic lipid-laden foamy macrophages. Thus detailed history, examination and investigations confirmed NPD-A. NPD-A has a poor prognosis and is usually fatal by three years of age. The patient was provided supportive treatment like nutritional therapy and physiotherapy, and parents were counselled regarding the disease outcome. The patient is regularly followed up, and two episodes of chest infections were reported during an 8-month period of follow-up.

OBJECTIVE: To summarize the clinical data of 7 children with activated phosphoinositide 3-kinase delta syndrome (APDS) and enhance understanding of the disease.
METHODS: A retrospective analysis was conducted on clinical data of 7 APDS children admitted to Hunan Provincial People\'s Hospital from January 2019 to August 2023.
RESULTS: Among the 7 children (4 males, 3 females), the median age of onset was 30 months, and the median age at diagnosis was 101 months. Recurrent respiratory tract infections, hepatosplenomegaly, and multiple lymphadenopathy were observed in all 7 cases. Sepsis was observed in 5 cases, otitis media and multiple caries were observed in 3 cases, and diarrhea and joint pain were observed in 2 cases. Lymphoma and systemic lupus erythematosus were observed in 1 case each. Fiberoptic bronchoscopy was performed in 4 cases, revealing scattered nodular protrusions in the bronchial lumen. The most common respiratory pathogen was Streptococcus pneumoniae (4 cases). Six patients had a p.E1021K missense mutation, and one had a p.434-475del splice site mutation.
CONCLUSIONS: p.E1021K is the most common mutation site in APDS children. Children who present with one or more of the following symptoms: recurrent respiratory tract infections, hepatosplenomegaly, multiple lymphadenopathy, otitis media, and caries, and exhibit scattered nodular protrusions on fiberoptic bronchoscopy, should be vigilant for APDS. Citation:Chinese Journal of Contemporary Pediatrics, 2024, 26(5): 499-505.
目的: 总结7例PI3Kδ过度活化综合征（activated phosphoinositide 3-kinase delta syndrome, APDS）患儿的临床资料，提高对该病的认识。方法: 回顾性分析2019年1月—2023年8月湖南省人民医院收治的7例APDS患儿的临床资料。结果: 7例患儿（男4例，女3例）中位发病年龄为30个月，中位诊断年龄为101个月。临床表现：反复呼吸道感染、肝脾大及多部位淋巴结肿大7例，脓毒血症5例，中耳炎及多发性龋齿3例，腹泻及关节痛2例，淋巴瘤、系统性红斑狼疮各1例。4例患儿行纤维支气管镜检查，管腔内均可见大量散在的结节样突起。最常见的呼吸道病原为肺炎链球菌（4例）。6例患儿为p.E1021K位点错义突变，1例为p.434-475del位点剪切突变。结论: p.E1021K是APDS患儿最常见的突变位点。对于具有反复呼吸道感染、肝脾大、多部位淋巴结肿大、中耳炎、龋齿等表现1项或多项，且纤维支气管镜下见散在结节样突起的患儿，需警惕APDS。 ［中国当代儿科杂志，2024，26（5）：499-505］.

Background/Objectives: Gaucher disease type 1 (GD1) is characterized by hepatosplenomegaly, thrombocytopenia, and disabling bone manifestations requiring regular MRI monitoring. The EIROS study assessed the real-world impact of velaglucerase alfa on GD1 bone disease, using MRI data collected in French clinical practice. Methods: MRIs collected retrospectively from treatment initiation and prospectively during follow-up (12-months) were analyzed centrally by a blinded expert radiologist to evaluate bone infiltration using the Bone Marrow Burden (BMB) score and a qualitative method (stable, improved or worsened for the spine and femur). Abdominal MRIs were also centrally analyzed to assess hepatosplenomegaly. Bone manifestations, hepatosplenomegaly, and hematologic parameters were analyzed from medical records. Results: MRI data were available for 20 patients: 6 treatment-naive patients and 14 patients who switched to velaglucerase alfa from another GD treatment. Interpretable MRIs for BMB scoring were available for seven patients for the spine and one patient for the femur. Qualitative assessments (n = 18) revealed stability in spine and femur infiltration in 100.0% and 84.6% of treatment-switched patients (n = 13), respectively, and improvements in 80.0% and 60.0% of treatment-naive patients (n = 5), respectively; no worsening of bone infiltration was observed. Liver, spleen, and hematologic parameters improved in treatment-naive patients and remained stable in treatment-switched patients. Conclusions: The qualitative real-world data support findings from clinical trials suggesting the long-term effectiveness of velaglucerase alfa on GD1 bone manifestations. When MRI assessment by radiologists with experience of GD is not possible, a simplified qualitative assessment may be sufficient in clinical practice for monitoring bone disease progression and treatment response.

Gaucher\'s disease is a rare autosomal recessive inborn error of metabolism. As the presentation of this disease is similar to more common diseases like malaria, portal hypertension, hematological disorders, and kala-azar, this rare disease may not be thought of as a differential diagnosis, and a high index of suspicion is required to avoid diagnostic delay. We report a case of type 1 Gaucher\'s disease in an adult male born out of a consanguineous marriage. He was from a region where the prevalence of infectious diseases and sickle cell anemia is high. He presented with abdominal distension, hepatosplenomegaly, and pancytopenia. Bone marrow biopsy showed the presence of Gaucher cells. Glucocerebrosidase levels showed decreased enzyme activity. The genetic study revealed a very rare mutation that has not been reported in the 1000 Genomes database till now. Retrospectively, the most important clue was his birth out of a consanguineous marriage of his parents.

The megakaryocyte and platelet inhibitory receptor gene G6P (MPIG6B) is located on chromosome 6p21.33. It encodes G6b-B; an inhibitory receptor expressed on the surface of platelets. It regulates platelets production, aggregation, and activation. We describe a case of a 31-year-old man who presented with a long history of thrombocytopenia, anemia, and hepatosplenomegaly. The patient received multiple blood transfusions and his clinical course was stable. A bone marrow biopsy showed morphologic features similar to primary myelofibrosis. Whole exome sequencing study was performed and revealed homozygous pathogenic mutation in exon 2 of MPIG6B gene (c.324C > A, p.Cys108Ter) that is the second reported case in literature. In this report, we describe the main clinical and pathologic features of this disease and review the literature of previously documented cases.

Congenital syphilis, caused by the Gram-negative obligate bacterium Treponema pallidum, can manifest as early- or late-onset infection, typically exhibiting classic symptoms such as a maculopapular rash, failure to thrive, and hepatosplenomegaly. This case report presents rare clinical manifestations of congenital syphilis not typically observed during early onset infection in a newborn in Bahrain. Additionally, it details the physical findings and investigations conducted to diagnose the disease.

Niemann-Pick disease (NPD) encompasses a minimum of three lysosomal storage diseases, all of which are inherited in an autosomal recessive manner. Acid sphingomyelinase (ASM) deficiency is the cause of NPD types A and B. ASM is the enzyme that hydrolyzes the sphingolipid sphingomyelin. An 18-month-old patient with progressive painless abdominal distension with organomegaly and neurological deficits presented to our hospital. Brain imaging and laboratory findings did not show anything, but there was a millstone growth delay. The diagnosis of NPD type A was confirmed by a genetic examination, which revealed a twofold change on chromosome 11p15.4 in the region encoding the sphingomyelin phosphodiesterase-1 (SMPD1) gene. The patient was followed up with no specific treatment, and signs of respiratory infections were later reported.