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Intellectual disability (ID) is a genetic and clinically heterogeneous common disease and underlying molecular pathogenesis can frequently not be identified by whole-exome/genome testing. Here, we report four siblings born to a consanguineous union who presented with intellectual disability and discuss the METAP1pathway as a novel etiology of ID. Genomic analyses demonstrated that patients harbor a novel homozygous nonsense mutation in the gene METAP1. METAP1codes for methionine aminopeptidase 1 (MetAP1) which oversees the co-translational excision of the first methionine remnants in eukaryotes. The loss-of-function mutations to this gene may result in a defect in the translation of many essential proteins within a cell. Improper neuronal function resulting from this loss of essential proteins could lead to neurologic impairment and ID.

Herpes zoster (HZ) is often associated with painful erythematous vesicular eruptions of the skin or mucous membranes. Approximately 10% to 30% of the population will suffer from HZ during their lifetime. HZ is infrequent in healthy children. However, diminished cellular immunity seems to increase risk of reactivation because incidence increases with age and in immunocompromised states. We report a 7-year-old girl with acute myeloblastic leukemia HZ infection on the right palmar, elbow and forearm region (C7, C8 and T1 dermatomes). We want to indicate unusual localization of HZ on the acute myeloblastic leukemia child patient.

Immune thrombocytopenic purpura is an acute, generally considered a self-limiting benign disorder with a 60%-80% change of spontaneous recovery occurring usually within a few months after onset. Intracranial hemorrhage is a rare but life-threatening complication of childhood immune thrombocytopenic purpura. We report a 4-year-old girl who admitted with headache, vomiting, bleeding from noise and bruises on the extremities. Her neurological examination was normal. Based on laboratory finding she was diagnosed immune thrombocytopenic purpura and intracranial hemorrhage. We suggest that cranial imaging should be perform in patients with immune thrombocytopenic purpura admitted with bleeding symptoms, vomiting and headache even if they had no abnormal neurological signs.

Nervous system is the most affected area in mycoplasma pneumoniaeinfections with exception of respiratory system. It is an important agent of childhood acute encephalitis and respiratory system infections in school-age children and young adults. Routine clinical and laboratory findings to identify spesific diagnosis is limited. Twelve-year-old female patient was admitted with fever, fatigue, sore throat, slipping the right eye, withdrawal of the mouth from the right and right hemiclonic seizures. Test of anti-Mycoplasma pneumoniae(M. pneumoniae) IgM was positive and IgG antibodies were found to be 4-fold increase in the sera of follow-up. This article was presented with the aim of remembering M. pneumoniaeto be an differential diagnosis in children with acute encephalitis.

A 8-year-old boy admitted with abdominal pain, fever and vomiting for the previous 10 days. Sensitivity was detected in the epigastric area. There was not defense and rebond. Aspartate aminotransferase was 106 U/L, alanine aminotransferase 25 U/L, alkaline phosphatase 311 U/L, blood amylase level 748 U/L, blood lipase level 391 U/L. In thoracic CT, soft tissue with smooth contours measuring 32 mm×28 mm was identified in the posterior mediastinum. Bone marrow aspiration biopsy was normal. A mass specimen obtained from the duodenum endoscopic biopsy. This specimen was diffuse staining by leukocyte common antigen, CD10 and CD20. The patient was diagnosed with acute pancreatitis associated with stage 3 duodenal Burkitt's lymphoma. Modified LMB-98 was initiated. Burkitt's lymphoma may rarely cause acute pancreatitis.