Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis.

AIM: The aim of this study was to conduct a metabolic and nutritional assessment of children with neuromuscular disorders, including the investigation of the liver and bone mineral density. METHODS: In this observational study, we included 44 children with neuromuscular disorders. The nutritional status, bone health and liver were assessed by ultrasound, transient elastography, dual X-ray absorptiometry scan, blood samples, anthropometric measurements and 3-day diet registration. RESULTS: Liver involvement was found in 31.0%: liver enlargement in 7.1%, steatosis in 4.8%, fibrosis in 14.3% and liver enlargement together with steatosis or fibrosis was found in 4.8%. These changes were found in 9/23 patients with Duchenne muscular dystrophy, 4/9 patients with spinal muscular atrophy type II and 0/12 patients with other neuromuscular diagnoses. Low bone mineral density was found in 44.0% of the patients, though the majority used daily vitamin D and calcium supplements. Vitamin D insufficiency or deficiency was found in 22.6%. CONCLUSION: The metabolic assessment in children with neuromuscular disorders shows an increased risk of liver enlargement, steatosis and fibrosis. Possible causes are obesity, decreased mobility, low skeletal muscle mass and for a subgroup the use of glucocorticoids. The findings suggest that monitoring liver function should be part of the nutritional assessment in patients with neuromuscular disorders.

Minimally invasive assessment of hepatic function in children with indocyanine green elimination: a validation study.

Objectives: Pediatric liver disease (PLD) covers a variety of etiologies and severities, from mild temporary illness to diseases with fatal outcomes. There is a demand for minimally invasive and reliable measures for assessment of the severity of PLD. Indocyanine green (ICG) elimination kinetics to estimate hepatic function has been used in adults for decades, however, due to invasiveness, the use in PLD is still limited. The aim of the present study was to evaluate minimally invasive estimation of ICG elimination by pulse spectrophotometry (ICGLi), in comparison with traditional spectrophotometry using serial blood samples (ICGbs). Methods: One hundred children aged 0-18 years were included in the study. ICG elimination kinetics was measured with ICGLi and ICGbs, and results compared by failure rates, mean difference, limits of agreement, Bland Altman plots and linear regression analysis. Plasma disappearance rates (PDRLi and PDRbs) were used for comparison. Results: One hundred and twelve simultaneous measurements in 87 patients were performed successfully. Mean difference for PDR (%/min) was 3.58 (95% CI 2.69; 4.47). Limits of agreement were -5.06; 12.22. A linear correlation between the two methods with a regression coefficient of 0.83 (SE 0.02 95% CI 0.80; 0.87) was found. For conversion we computed the following equation; PDRbs = 0.83 × PDRLi. Conclusions: The present study shows that ICG PDR can be obtained by a minimally invasive method and thus replace measures by serial blood samples in children with liver disease of different etiologies and severities. However, a systematic relative difference between the two methods exists. Our proposed correction factor needs to be validated in larger cohorts.

An Uncommon Case of Pediatric Esthesioneuroblastoma Presenting as SIADH: 18F-FDG PET/CT in Staging and Post-Therapeutic Assessment.

Esthesioneuroblastoma (ENB) is an uncommon neuroendocrine tumor originating from the olfactory neuroepithelium and accounts for 3-6% of all intranasal tumors [¹]. ENBs can be locally aggressive and cause invasion and destruction of surrounding structures. Histological grading and clinical stage at presentation are highly predictive of survival and especially presence of lymph node and distant metastases are determining prognostic factors [²,³,4,5]. Thus, reliable imaging is essential in these patients. Conventional imaging modalities for staging ENB are magnetic resonance imaging (MRI) and computed tomography (CT). However, fluorine-18 fluoro-2-deoxy-d-glucose positron emission tomography/CT (18F-FDG PET/CT) has been reported as a valuable adjunct and was found to upstage 36% of ENB patients compared to conventional imaging [6]. We present a case demonstrating the diagnostic work-up and follow-up with 18F-FDG PET/CT in a young patient with ENB with a highly atypical clinical presentation.

[Prognostic value of PET and MRS in the assessment of cerebral status of children]. / Prognostisk vaerdi af PET og MRS ved evaluering af cerebral status hos børn.

We report a case of a 12-week-old previously normal infant with severe brain damage after an episode of asphyxia during an RS-virus infection. Sub-acute MRI was normal, but new functional techniques, PET (positron emission tomography) and MRS (magnetic resonance spectroscopy) were severely abnormal. At an outpatient clinic three months later, he had developed microencephaly and the MRI was now severely abnormal. The case shows the importance of using multimodality functional imaging techniques to assess the cerebral status of infants for prognosis and course of treatment.