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Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.

Crohn's Disease (CD) is a chronic granulomatous inflammatory bowel disease which may also involve the extraintestinal organs such as joints, liver, skin and perianal tissue. Involvement of the aerodigestive tract is quite rare in CD. We report a 16-year-old girl with CD and nasal perforation as an extraintestinal manifestation of the disease.

Dysphagia secondary to congenital cricopharyngeal achalasia (CCA) is a rare condition in pediatric patients. We report a case of CCA in a 10-month-old boy presented with dysphagia, choking and nasal reflux. The diagnosis was made by barium studies. The patient was successfully treated by cricopharyngeal myotomy.

Cholesteryl ester storage disease (CESD) is an autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia. This paper reports a two-year-old boy who had hepatosplenomegaly, hyperlipidemia and hypertransaminasemia determined incidentally. The liver biopsy sample was orange-yellow in appearance. Microscopically, microvesicular steatosis and birefringent crystals were seen in liver biopsy. The diagnosis of CESD was confirmed by the reduced human acid lipase activity in peripheral leukocytes. Simvastatin therapy was given and tolerated without side effects. Our patient is the youngest reported case in the literature treated with 3-hydroxy 3-methyl glutaryl (HMG) CoA reductase inhibitor.

Chronic intestinal pseudoobstruction is a rare disorder of intestinal motility, characterized by recurrence of continuous symptoms and signs of intestinal obstruction in the absence of true mechanical obstruction. Congenital or systemic disorders are the causes of chronic intestinal pseudoobstruction. The term idiopathic is applied when there is no congenital or secondary cause. Early diagnosis of intestinal pseudoobstruction is important to avoid repeated laparotomies. Treatment of chronic intestinal pseudoobstruction is usually supportive. Besides the supportive therapy, prokinetic agents such as erythromycin and octreotide are used in the therapy. In this article, four pediatric patients diagnosed as chronic intestinal pseudoobstruction are discussed with their clinical findings and laboratory abnormalities. The etiology of chronic intestinal pseudoobstruction was visceral myopathy in one patient. Two had idiopathic chronic intestinal pseudoobstruction and the other patient developed chronic intestinal pseudoobstruction after cardiac surgery. Erythromycin was administered to all four patients, one of whom did not respond to this therapy. Octreotide was effective in this case.