A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome

Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients carrying GSD1a show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia. Long-term symptoms include gouty arthritis and uric acid stones, osteoporosis, renal failure, intestinal impairment, cirrhosis and hepatic adenomas, and eventually, hepatocellular carcinoma. Hyperlipidemia is the indicator of poor metabolic control in GSD1a. Patients with variable levels of triglycerides (TGs) have been reported in the literature. We present a case of GSD1a that presented with severe hypertriglyceridemia (HTG) mimicking familial chylomicronemia syndrome.

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10

Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respiratory chain complex I deficiency, which is characterized by cardiomyopathy, lactic acidemia, and muscle weakness. Infantile cardiomyopathy is the most common phenotype and is usually lethal by the age of 5 years. Riboflavin treatment is known to be effective in ~65% of the patients; however, the remaining are unresponsive to riboflavin and are in need of additional treatment measures. In this report, we describe a patient with ACAD9 deficiency who developed progressive cardiomyopathy at 8 months of age. As the patient’s left ventricular ejection fraction (LVEF) kept decreasing to 45.4% at 1 year 8 months, sodium pyruvate treatment was introduced together with a beta-blocker and coenzyme Q10. This resulted in a steady improvement, with full and sustained normalization of cardiac function without riboflavin. The therapy, therefore, might be a useful addition for the treatment of ACAD9 deficiency.

Abstract 19: Progressive Metabolic Derangement During Prolonged Resuscitation for Refractory VT/VF Cardiac Arrest and the Relationship to Neurologically Intact Survival With Extracorporeal Cardiopulmonary Resuscitation

Background: Multiple studies have shown declining likelihood of neurologically intact survival with prolonged resuscitation with standard CPR. With standard CPR, survival after VT/VF arrest declines from 35-45% at initiation of CPR to 10-20% survival at 30 min. Objective: The aim of this study was to examine the effects of resuscitation duration on neurologically intact survival in the Minnesota Resuscitation Consortium ECPR protocol. Further, the progressive metabolic derangement of prolonged resuscitation was observed for the first time in this population. Methods: Between December 1, 2015 and May 1, 2018, 115 consecutive adult patients with refractory out-of-hospital VT/VF cardiac arrest requiring ongoing CPR were transported to the cardiac catheterization laboratory where ECLS was initiated and coronary angiography and PCI were performed as needed. Patients achieving an organized cardiac rhythm were admitted for further treatment. Results: Overall, 41% of patients receiving full resuscitative efforts were discharged neurologically intact. Neurologically intact survival declined with increasing duration of CPR with 100% survival in patients placed on ECLS within 30 min. Survival declined to 50% within 50 min and 20% within 70 min. Lactic acid and paCO2 increased over time peaking at 15 mmol/L and 72 mmHg, respectively. pH declined accordingly reaching 6.92 at its nadir. paO2 was stable over time but variable between patients. Conclusions: Likelihood of neurologically intact survival declined with increasing duration of CPR for patients going on to receive ECLS. The metabolic profile worsened during prolonged CPR with increasing lactic acidemia and hypercapnia but survival could be achieved with the hemodynamic support provided by ECLS. Together these findings support the need for rapid transport of patients to teams prepared to place ECLS. Substantial decline in survival begins at 30 min of CPR.

Pneumatosis Intestinalis in Patients Receiving Tube Feeds

Pneumatosis intestinalis (PI) identified on computed tomography (CT) suggests an underlying pathology including bowel ischemia. Patients receiving tube feeds can develop PI, potentially requiring surgical intervention. We identify clinical factors in PI to predict those that may be safe to observe versus those that need immediate intervention. We retrospectively reviewed patients from a single institution from 2008 to 2016 with CT findings of PI and an enteric feeding tube. Patients who had not received tube feeds within one week of the CT were excluded. We analyzed clinical, operative, and outcome data to differentiate benign from pathologic outcomes. P values < 0.05 were set as significant. Forty patients were identified. We classified 24 as benign (no intervention) and 16 as pathologic (requiring intervention). A pathologic outcome was demonstrated for free fluid on CT [odds ratio (OR) = 5.00, confidence interval (CI) 1.23-20.30, P = 0.03)], blood urea nitrogen (BUN) elevation (OR = 8.27, CI 1.53-44.62, P = 0.01), creatinine (Cr) elevation (OR = 5.00, CI 1.27-19.62, P = 0.02), BUN/Cr ratio >30 (OR = 8.57, CI 1.79-40.98, P = 0.006), and vomiting/ feeding intolerance (OR = 9.38, CI 1.64-53.62, P = 0.01). Bowel function within 24 hours of the CT, bowel dilatation (small ≥ 3 cm; large ≥6 cm), and lactic acidemia were not significant. Peritonitis was only seen in pathologic states, but this did not reach statistical significance (P = 0.06). This represents the largest single-center retrospective analysis of tube feeding-induced PI to date. The presence of free fluid on CT, BUN and Cr elevation, BUN/Cr >30, vomiting/feeding intolerance and peritonitis were predictive of a pathologic etiology of PI.