Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report.

BACKGROUND: Fructose-1,6-bisphosphatase deficiency is a rare autosomal recessive disorder characterized by impaired gluconeogenesis. Fructose-1,6-bisphosphatase 1 (FBP1) mutations demonstrate ethnic patterns. For instance, Turkish populations commonly harbor exon 2 deletions. We present a case report of whole exon 2 deletion in a Syrian Arabian child as the first recording of this mutation among Arabian ethnicity and the first report of FBP1 gene mutation in Syria. CASE PRESENTATION: We present the case of a 2.5-year-old Syrian Arab child with recurrent hypoglycemic episodes, accompanied by nausea and lethargy. The patient's history, physical examination, and laboratory findings raised suspicion of fructose-1,6-bisphosphatase deficiency. Whole exome sequencing was performed, revealing a homozygous deletion of exon 2 in the FBP1 gene, confirming the diagnosis. CONCLUSION: This case highlights a potential novel mutation in the Arab population; this mutation is well described in the Turkish population, which suggests potential shared mutations due to ancestral relationships between the two ethnicities. Further studies are needed to confirm this finding.

Hydropneumothorax caused by complete rupture of a pulmonary hydatid cyst: A rare case report.

Hydatid disease is a zoonotic disease endemic in developing regions. It is usually caused by infection with the tapeworm Echinococcus granulosus due to contaminated food or drinks or by close contact with dogs. The lungs are the second most affected organ (25%) after the liver (>65%). Cyst rupture is the most frequent complication. Enlarging pulmonary cysts are more vulnerable to rupture, with rupturing in the bronchial tree being the most common (20%-40%). Hydropneumothorax is a consequence of complete cyst rupture into the pleural cavity and occurs in rare cases (2%-4%). Superinfection is a common complication of the ruptured cyst, which might lead to empyema. A 26-year-old male presented to our clinic with dyspnea that had progressed recently and made him unable to walk a few meters. He had a history of cough and exertional dyspnea and was examined by three different clinics without performing a chest X-Ray. Physical examination revealed fever and a sick appearance. Chest X-ray revealed complete pneumothorax with an air-fluid level in the left hemithorax. Computerized tomography demonstrated two cysts, and one of them was ruptured, causing hydropneumothorax and empyema. The patient was treated with surgery, and follow-up showed recovery with a fully re-expanded lung. Rupture of pulmonary hydatid cyst is seen in the most of cases, the clinicians must be aware of such presentation and management of the pulmonary hydatid disease.

Neurofibromatosis type 1 in Syrian older patient presented with gastric outlet obstruction.

Neurofibromatosis type 1 is an autosomal dominant disorder with cutaneous features and multiple tumors that involve different organs. Gastrointestinal stromal tumors are non-epithelial tumors associated with neurofibromatosis type 1 and arise from the gastrointestinal tract. Patients with gastrointestinal stromal tumor present most commonly with anemia due to overt or occult bleeding and in rare cases diagnosis might be delayed so patients present with gastrointestinal tract obstruction. Here, we report a rare case of an older patient with neurofibromatosis type 1, who was undiagnosed and presented with acute abdomen due to gastric outlet obstruction. It was caused by progressive gastrointestinal stromal tumor in the antrum of the stomach. Gastrointestinal stromal tumors should be considered in the differential diagnosis of gastric outlet obstruction, especially in patients with neurofibromatosis type 1.