Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.

Acetyl-CoA transporter 1 (AT-1) is a transmembrane protein which regulates influx of acetyl-CoA from the cytosol to the lumen of the endoplasmic reticulum and is therefore important for the posttranslational modification of numerous proteins. Pathological variants in the SLC33A1 gene coding for AT-1 have been linked to a disorder called Huppke-Brendel syndrome, which is characterized by congenital cataracts, hearing loss, severe developmental delay and early death. It has been described in eight patients so far, who all had the abovementioned symptoms together with low serum copper and ceruloplasmin concentrations. The link between AT-1 and low ceruloplasmin concentrations is not clear, nor is the complex pathogenesis of the disease. Here we describe a further case of Huppke-Brendel syndrome with a novel and truncating homozygous gene variant and provide novel biochemical data on N-acetylated amino acids in cerebrospinal fluid (CSF) and plasma. Our results indicate that decreased levels of many N-acetylated amino acids in CSF are a typical metabolic fingerprint for AT-1 deficiency and are potential biomarkers for the defect. As acetyl-CoA is an important substrate for protein acetylation, we performed N-terminal proteomics, but found only minor effects on this particular protein modification. The acetyl-CoA content in patient's fibroblasts was insignificantly decreased. Our data may help to better understand the mechanisms underlying the metabolic disturbances, the pathophysiology and the clinical phenotype of the disease.

Feather foreign body caused periparotid and peritonsillar abscess in a 9-month-old girl.

Migratory foreign body appeared to be bird feather, caused peritonsillar and periparotid abscess in a nine-month-old infant. Patient presented painful, tender and fluctuating red neck mass on the left neck region II, and refusal of oral intake, with no fever. Azithromycin was introduced four days before presentation for suspected urinary tract infection. ENT examination revealed left peritonsillar abscess; ultrasound confirmed periparotid abscess, MSCT verified both diagnoses. Under general anaesthesia, we performed abscess incision, after pus drainage, small foreign body spontaneously came through the wound. After washing it with saline, it appeared like a bird feather. Subsequently, peritonsillar abscess was incised and drained. After 24-hour postoperative care on pediatric intensive care unit, the patient continued three-day parenteral antibiotic treatment on the otolaryngology department; it was discharged with a recommendation to continue seven days of oral antibiotic therapy. Suggested mechanism was ingestion of bird feather from stuffed bedding, that got trapped in the tonsillar crypt. Afterwards, it started to migrate through the neck tissue. Households with children younger than three years should not have feather stuffed clothes or beddings.

Late-Onset Hypertrophic Pyloric Stenosis in a 14-Weeks-Old Full Term Male Infant.

BACKGROUND: Hypertrophic pyloric stenosis is the most common cause of gastric outlet obstruction in infants, and classically presents at 2 to 6 weeks of age. Delayed presentation is an extremely rare occurrence after early infancy. CASE REPORT: A 14-weeks-old full term male infant presented with non-bilious vomiting, dehydration and hypocloremic metabolic alkalosis. Abdominal ultrasonography revealed tubular mass 20 mm in lenght. Because of unusual age, diagnosis was confirmed with upper gastrointestinal contrast study. Laparoscopic pyloromyotomy was performed. After surgery the child was free of symptoms, had gained weight, and was tolerating a regular diet. Message: Despite the age hypertrophic pyloric stenosis should be kept in mind in any child who presents with non-bilious vomiting.