Nebulized magnesium sulfate plus salbutamol may have additive effects for improving the short-term CSS.

Gaucher disease (GD) is a rare, autosomal recessive genetic disorder caused by deficiency of lysosomal enzyme, glucocerebrosidase, which results in the accumulation of glucocerebrosideladen macrophages (Gaucher cells) in the reticuloendothelial system. 1 Mesenteric lymphadenopathy is a rare manifestation of GD in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported. [1][2][3][4] Here, we report a girl with chronic neuronopathic GD whose disease course was complicated by massive mesenteric lymphadenopathies with resultant protein losing enteropathy despite a regular and appropriate enzyme replacement therapy (ERT). Case ReportThe patient was the first child of nonconsanguineous parents and the diagnosis of GD was made at the age of 18 months. At the time of diagnosis, she had severe hepatosplenomegaly

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Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea. It generally becomes apparent in the neonatal period and is characterized by electrolyte imbalances, metabolic alkalosis, and failure to thrive. The diagnosis of congenital chloride diarrhea is based on detecting excessive chloride in the stool (90 mmol/L). We report a Turkish neonate with congenital chloride diarrhea whose sibling had the same disease. The newborn was born by cesarean delivery. Diarrhea, vomiting, and weight loss started soon after birth. She was diagnosed as having congenital chloride diarrhea based on its typical clinical signs and a high concentration of stool chloride and was confirmed by genetic analysis. She was treated by means of salt supplementations and lansoprazole. Family history may play an important role in the early diagnosis because the disease is inherited autosomal recessively.

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