Mucopolysaccharidosis type III (MPS 3) is an autosomal recessive disorder caused by a deficiency of one of the four enzymes involved in the lysosomal degradation of heparan sulfate (HS). It is often unrecognized or misdiagnosed in children as an idiopathic developmental/speech delay, attention deficit/hyperactivity disorder (ADHD), and/or autism spectrum disorder. It is characterized by progressive mental deterioration and behavioral problems with dysmorphic facial features and mild somatic signs. We report on children with ADHD who were repeatedly admitted to the pediatric psychiatry department for sleep disturbances, hyperactivity, and speech delay; and to the emergency department with accidental corrosive substance ingestion. Children with mental retardation, coarse face, and hypertrichosis were referred to the pediatric gastroenterology department for preliminary diagnosis of MPS. Lysosomal enzyme activity examinations in leukocytes revealed increased levels of total glycosaminoglycans, heparin, and HS, and decreased HS sulphamidase activity, leading to the diagnosis of MPS III.
In these case series, patients admitted to pediatric gastroenterology outpatient clinic with gastrointestinal complaints in the last year and diagnosed with malignancy after the examinations were discussed. Nine patients diagnosed with malignancy were evaluated with biochemical, imaging and histopathological methods. One of the patients, aged 4 months 8 years, was diagnosed with Burkitt's leukemia, two were diagnosed with Burkitt's lymphoma, the other two were diagnosed with neuroblastoma while two were diagnosed with posterior fossa tumor, two were diagnosed with Langerhans cell histiocytosis. All patients were referred to the pediatric oncology service for further treatment. We think that patients presenting with gastrointestinal findings should be evaluated in more detail by general pediatricians before they are referred to minor outpatient clinics.
The Coronavirus Disease 2019 (COVID-19) pandemic started in December 2019 with a pneumonia outbreak of unknown origin. In SARS-CoV-2 infection, in addition to classic pneumonia symptoms such as cough, shortness of breath and fever; gastrointestinal symptoms such as diarrhea, nausea, vomiting, and abdominal pain may also present. However, recent studies have shown an increasing number of COVİD-19 patients reporting other organ manifestations including pancreas. Although viruses are known to be a cause of pancreatitis in children, acute pancreatitis associated with the SARS-CoV-2 virus has just begun to be defined, and current data on this subject are limited,and little is known about its prevalence. and pathogenesis. In this review, the most recent literature on pancreas involvement during SARS-CoV-2 infection will be reviewed.
The incidence of malnutrition is increasing in cases with malignancies in which catabolism is increased. Burkitt lymphoma and leukemia is differentiated by the ratio of blastic cells in bone marrow (>25% or <25%). The primary tumor is usually in the abdomen in cases with Burkitt lymphoma. The most common locations are ileocecal, appendix and ascendant colon and the most common symptoms are abdominal pain and abdominal distention. The other associated symptoms are nausea, vomiting, weight loss and defecation disorders. In this report, a case with Burkitt lymphoma admitted with malnutrition is presented. (JAREM 2016; 6: 53-5)
Infantile hepatic hemangiomendothelioma, a bening vascular neoplasia derived from endothelial cells, is the most common newborn tumor located in the liver. The tumor has female predominancy. Mostly, it is associated with a good prognosis and may show spontaneous regression by the time the infant is 1 year of age. Although most of the patients are asymptomatic, abdominal mass, hepatomegaly, jaundice, nausea, and vomiting can be encountered among common clinical findings. Herein, a 1.5-month-old boy with abdominal distention was referred to our gastroenterology unit for hepatomegaly. Non-invasive diagnostic modalities revealed infantile hepatic hemangioendothelioma.
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