Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.

BACKGROUND: Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked oligosaccharide precursor of N-linked glycans. SLC35A2-CDG (previously CDG-IIm) is caused by hemizygous or heterozygous mutations in the X-linked gene SLC35A2 that encodes a UDP-galactose transporter. To date there have only been 10 reported patients with SLC35A2 mutations. Importantly, the patient presented here was not identified in infancy by transferrin isoform analysis, the most common testing to identify patients with a congenital disorder of glycosylation. CASE PRESENTATION: A 27 month old girl with developmental delay, central hypotonia, cerebral atrophy, and failure to thrive with growth retardation was identified by whole exome sequencing to have a mosaic missense variant in SLC35A2 (c.991G > A). This particular variant has been previously reported in a male as a mutation. Comparison of all clinical findings and new information on growth pattern, growth hormone testing and neurodevelopmental evaluation are detailed on the patient presented. CONCLUSION: This patient report increases the clinical and scientific knowledge of SLC35A2-CDG, a rare condition. New information on reduced growth, growth hormone sufficiency, lack of seizures, and neurodevelopmental status are presented. This new information will be helpful to clinicians caring for individuals with SLC35A2-CDG. This report also alerts clinicians that transferrin isoform measurements do not identify all patients with congenital disorders of glycosylation.

Iatrogenic aortic dissection of the descending aorta after percutaneous coronary intervention.

Aortic dissection is a rare and potentially fatal complication of coronary angiography. We report a case of a woman in her late 80s who underwent a left femoral approach coronary angiogram for evaluation of a transcatheter aortic valve replacement (TAVR). Following the procedure, she had a cardiac arrest and was found to have a descending aortic dissection on transoesophageal echocardiogram. Autopsy showed an acute intimal tear of the descending aorta, most likely related to catheter manipulation. Patients undergoing evaluation for TAVR, who tend to be elderly with concomitant atherosclerosis, are at risk for complications following cardiac catheterisation including aortic dissection.

Mycotic aortic aneurysm due to Capnocytophaga species infection treated non-surgically.

Capnocytophaga canimorsus, a commensal organism in canine flora, is most frequently transmitted to humans via animal bite. Infection can lead to multiorgan failure, disseminated intravascular coagulation, and uncommonly mycotic aneurysm. We present a case of a 65-year-old male who presented to the emergency department with right lower quadrant abdominal pain, nausea with vomiting, and diarrhea that began the evening prior to presentation. A computed tomography (CT) scan of the abdomen and pelvis with contrast demonstrated a 4.3 cm fusiform infrarenal aortic aneurysm concerning for a mycotic aneurysm. Vascular surgery felt there was a low likelihood of rupture and empiric antimicrobials were started. Eventually blood cultures grew a Capnocytophaga species and antimicrobials were then narrowed to imipenem. No surgical intervention was performed. Serial imaging showed stability of aneurysm with improvement and later complete resolution of inflammatory changes one month after onset of symptoms. This is the first reported case of Capnocytophaga mycotic aneurysm that was treated with antimicrobials alone and no surgical intervention.