CASE PRESENTATION: A 25-year-old super morbidly obese female (body mass index = 55 kg/meter2) presented with worsening shortness of breath. For MV, pairing of a 6 mm (mm) diameter ETT to accommodate the patient's vocal cord edema, with a CSS not designed to maintain a clean catheter tip, precipitated ETT blockage and respiratory acidosis. Replacement of these devices with a 6.5 mm ETT and a CSS designed to keep the catheter tip clean resolved the complications. After use of the different ETT and CSS for approximately one week, the patient was discharged to home.
DISCUSSION: The clean-tip catheter CSS enabled a more patent airway than its counterpart device that did not have this feature. Use of a clean-tip catheter CSS was an important care development for this patient, because this individual's super morbidly obese condition minimized tolerance for MV complications that would exacerbate her pre-existing tenuous respiratory health status.
CONCLUSION: Special attention should be given to the choices of ETT size and CSS to manage super morbidly obese patients who have a history of difficult airway access.
METHODS: All patients diagnosed with FBPase deficiency from 2010 to 2015 were included in this study. Their clinical and laboratory data were collected retrospectively.
RESULTS: All the patients presented with recurrent episodes of hypoglycemia, metabolic acidosis, hyperlactacidemia and hepatomegaly. All of them had the first metabolic decompensation prior to 2 years old. The common triggering factors were vomiting and infection. Biallelic mutations in FBP1 gene (MIM*611570) were identified in all seven patients confirming the diagnosis of FBPase deficiency. In four patients, genetic study was prompted by detection of glycerol or glycerol-3-phosphate in urine organic acids analysis. One patient also had pseudo-hypertriglyceridemia. Seven different mutations were identified in FBP1, among them four mutations were new: three point deletions (c.392delT, c.603delG and c.704delC) and one splice site mutation (c.568-2A > C). All four new mutations were predicted to be damaging by in silico analysis. One patient presented in the neonatal period and succumbed due to sepsis and multi-organ failure. Among six survivors (current age ranged from 4 to 27 years), four have normal growth and cognitive development. One patient had short stature and another had neurological deficit following status epilepticus due to profound hypoglycemia.
CONCLUSION: FBPase deficiency needs to be considered in any children with recurrent hypoglycemia and metabolic acidosis. Our study expands the spectrum of FBP1 gene mutations.