No Local Findings after Subclavian Catheter Removal. Is Everything Alright? Case Report.

A 10-year-old male patient was admitted to the paediatric intensive care unit due to septic shock and oliguric acute renal failure. A haemodialysis catheter (11.5 Fr) was inserted into left subclavian vein for haemodialysis and cytokine-adsorption therapy. Haemodialysis and cytokine adsorption filter was applied to the patient for a total of two days, and then haemodialysis catheter was not used. The catheter was removed from the patient who was decided to transfer to the service on the fifth day of his admission. Tachycardia and hypotension developed and general condition deteriorated immediately after removal of the catheter. With rapid interventions, shock findings were corrected and the patient was reintubated and followed up in mechanical ventilation. On chest X-ray and thorax ultrasonography, the left hemithorax was completely filled, and a total of 1,500 mL of blood was drained by inserting a thorax tube. The patient was transferred to the paediatric pulmonology clinic after nine days of intensive care stay. Haemothorax development after subclavian catheter removal is a rare but a life-threatening condition. For these reasons, we believe that cases with removed subclavian or internal jugular vein catheters should be followed up for a suitable period of time.

A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy.

Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline kinase beta gene (CHKB) and has specific muscle biopsy findings. Here we investigate two patients with weakness of proximal muscles and generalized muscle atrophy, skin changes, agressiveness, social communication and empathy difficulties. Both patients had mildly elevated serum CK levels. Whole exome sequencing (WES) performed for both patients and homozygous c.818+1G>A and homozygous c.1031+1G>A variants were detected in patient 1 and patient 2, respectively. We would like to draw the attention of autism spectrum disorder in early diagnosis of congenital muscular dystrophies.