Ganglioneuroma in a child with chronic constipation and abdominal pain

Background: Ganglioneuromas are rare, benign, slow-growing tumors arising from the neural crest. They are most commonly in posterior mediastinum, retroperitoneum, adrenal medulla and neck. They are very rare in presacral region. Case Report: A 15 year old girl presented with abdominal pain and chronic constipation. A mass was seen between the uterus and sacrococcygeal bone in abdominal CT. It is resected totally and evaluated as ganglioneuroma. Conclusion: Presacral ganglioneuroma is a benign tumor which is rarely encountered. Patients might present with abdominal pain and constipation complaints as seen in our patient. Therefore, imaging methods should certainly be used for patients with chronic constipation which is resistance to treatment. [Med-Science 2018; 7(4.000): 956-8

Typhoid Fever Accompanied With Hematopoetic Lymphohistiocytosis and Rhabdomyolysis in a Refugee Child

###EgeUn###Typhoid fever is an acute and systemic infectious disease that is specific to humans and is caused by Salmonella typhi. Patients may present with different findings ranging from simple fever to multiple organ failure. Hemophagocytosis and rhabdomyolysis are rare complications of typhoid fever. In this study, we presented a case of hemophagocytic lymphohistiocytosis and rhabdomyolysis in a 14-year-old girl who migrated from Mosul, Iraq, 1 month ago

Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF

###EgeUn###Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutation responding to GCSF

Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF

WOS: 000524726900008PubMed: 30499904Severe Congenital Neutropenia (SCN) is a rare inherited disease characterized by an absolute neutrophil count (ANC) lower than 500/mu L. Genetic heterogeneity and biallelic CSF3R mutation has rarely been identified as an underlying genetic defect in SCN. the majority of SCN patients respond to granulocyte colony stimulating factor treatment; however, in patients with inherited CSF3R mutation, ANC cannot generally be increased with granulocyte colony stimulating factor treatment. in such cases, granulocyte macrophage colony stimulating factor presents as an effective treatment option. Herein, we report a case of a 5-year-old SCN girl with homozygous c610-611 del ins AG (p.Q204R) mutation in the CSF3R gene, who was successfully treated with granulocyte macrophage colony stimulating factor