Low skeletal muscle mass and liver fibrosis in children with cerebral palsy.

The purpose of the study was to conduct a nutritional and metabolic assessment of children with cerebral palsy, including an investigation of liver status, body composition, and bone mineral density. In this cross-sectional study we included 22 children with cerebral palsy. By using ultrasound, transient elastography, dual x-ray absorptiometry (DXA) scan, blood samples, anthropometric measurements, and a three-day diet registration, the nutritional and metabolic status was evaluated. Liver fibrosis and steatosis were found in four patients (18.2%), all with severe motor impairments, low skeletal muscle mass, and epilepsy. All patients with liver involvement had normal liver-related blood samples. Decreased bone mineral density was found in 26.3%, and 91.0% had low skeletal muscle mass. Fat mass and muscle mass were significantly lower in the patients with severe motor impairments compared to the patients with less severe motor impairments. Within the children classified as 'underweight' or 'normal' according to body mass index, body fat determined by DXA scan was normal or high in 50% of these patients. CONCLUSIONS: This study is the first to report liver fibrosis and steatosis in children with cerebral palsy. Possible causes of liver fibrosis and/or steatosis are altered body composition with low skeletal muscle mass, decreased mobility and medical drug intake. Further investigations of liver involvement and risk factors are needed. WHAT IS KNOWN: • Children and adolescents with cerebral palsy are at risk of malnutrition and altered body composition, both of which can lead to fatty liver disease. • It is unknown whether children with cerebral palsy are at increased risk of metabolic disturbances such as fatty liver disease. WHAT IS NEW: • Altered body composition and low skeletal muscle mass, regardless of ambulation is present in 91% of the children with cerebral palsy. • Liver fibrosis and/or steatosis were found in 18.2% of the patients. Possible causes are altered body composition, decreased mobility and medical drug intake.

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.

Nutritional screening of children and adolescents with cerebral palsy: a scoping review.

AIM: To examine nutritional screening methods for children and adolescents with cerebral palsy. METHOD: A scoping review was performed using established methodologies. In June 2020 we searched PubMed, Embase, CINAHL Complete, and the Cochrane Central Register of Controlled Trials to identify articles on tools/methods for nutritional screening of our target groups. RESULTS: Thirty studies were included, containing various tools/methods used to identify under- and/or overnutrition by weight/height, circumferences, skinfolds, questionnaires, and/or technically advanced or invasive methods. Questionnaires, weight/height, circumferences, and skinfolds were considered feasible based on clinical utility, whereas bioelectrical impedance analysis and blood samples were not. INTERPRETATION: We identified two screening tools for undernutrition that include no physical measurements, but did not find any screening tools for overweight and obesity. Most of the studies recommended one or more methods, indicating that determining nutritional status most likely includes a combination of methods, not all of which may be feasible in clinical practice. What this paper adds No nutritional screening tool using anthropometry or body composition was discovered. Heterogenous methods to identify under- and/or overnutrition are recommended. Preferable methods for nutritional screening include assessment of body composition. A validated nutritional screening tool for identification of overweight is warranted.

Prolonged fasting-induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II.

AIM: This study explored hypoglycaemia and metabolic crises, including hyperketosis, in patients with spinal muscular atrophy (SMA). METHODS: The study comprised four adolescents aged 15-17 and six adults aged 19-37 with SMA type II and eight adult controls aged 21-41, who were recruited by the Rigshospitalet, Denmark, from May 1st to October 30th 2017. We used stable isotope technique and indirect calorimetry to investigate fat and glucose metabolism during a 24-h fast or until hypoglycaemia occurred. RESULTS: All patients with SMA II developed moderate to severe hyperketosis and 60% had symptoms of hypoglycaemia or blood glucose levels below 3 mmol/L. None of the controls developed hyperketosis or hypoglycaemia. Plasma bicarbonate decreased, in line with increased ketone bodies, indicating the start of metabolic acidosis in patients with SMA II. Increased fat production and utilisation were seen in healthy controls during the fasting period, but were absent in patients with SMA II, indicating blunted fat oxidation. CONCLUSION: Low skeletal muscle mass was the best explanation for why patients with SMA II had an increased risk of hypoglycaemia, hyperketosis, metabolic acidosis and disturbed fat and glucose metabolism during fasting. These risks have implications for children facing surgery and those with severe illnesses.

Fatal case of hospital-acquired hypernatraemia in a neonate: lessons learned from a tragic error.

A 3-week-old boy with viral gastroenteritis was by error given 200 mL 1 mmol/mL hypertonic saline intravenously instead of isotonic saline. His plasma sodium concentration (PNa) increased from 136 to 206 mmol/L. Extreme brain shrinkage and universal hypoperfusion despite arterial hypertension resulted. Treatment with glucose infusion induced severe hyperglycaemia. Acute haemodialysis decreased the PNa to 160 mmol/L with an episode of hypoperfusion. The infant developed intractable seizures, severe brain injury on magnetic resonance imaging and died. The most important lesson is to avoid recurrence of this tragic error. The case is unique because a known amount of sodium was given intravenously to a well-monitored infant. Therefore the findings give us valuable data on the effect of fluid shifts on the PNa, the circulation and the brain's response to salt intoxication and the role of dialysis in managing it. The acute salt intoxication increased PNa to a level predicted by the Edelman equation with no evidence of osmotic inactivation of sodium. Treatment with glucose in water caused severe hypervolaemia and hyperglycaemia; the resulting increase in urine volume exacerbated hypernatraemia despite the high urine sodium concentration, because electrolyte-free water clearance was positive. When applying dialysis, caution regarding circulatory instability is imperative and a treatment algorithm is proposed.

[A Scandinavian guideline for initial management of minimal, mild and moderate head trauma in children].

The Scandinavian Neurotrauma Committee has recently published an evidence- and consensus-based guideline for the management of minor and moderate head trauma in children. They aim is to select children for computed tomography (CT) scan, observation or early discharge, with the attempt to reduce the number of CT scans in children without missing any significant intracranial injury in need for treatment. A flow chart of the guidelines and a help sheet has been developed for clinical use. Suggestions for in-hospital observation and parental information are also presented. We present the guideline in Danish.

[Idiopathic pulmonary haemosiderosis in a one-year-old girl with Down syndrome].

Idiopathic pulmonary haemosiderosis (IPH) is a rare disease. We describe a girl with Down syndrome who had no major respiratory symptoms until one year of age, where recurrent airway infections and chronic anaemia of unknown aetiology developed. At 20 months of age she had intermittent haemo-ptysis, was investigated with computed tomography and broncho-alveolar lavage and was diagnosed with IPH. After treatment, respiratory symptoms and anaemia resolved and a positive impact on previously impaired growth and psychomotor development was seen. Paediatricians should consider IPH in children with recurrent respiratory symptoms and anaemia.

[Autoimmune synaptic encephalitis is a disease entity on the rise]. / Autoimmun synaptisk encefalitis er en underdiagnosticeret sygdomsgruppe.

The term autoimmune synaptic encephalitis (ASE) comprises encephalitides associated with autoantibodies against structures of the neuronal synapse. We review four types of ASE (anti-N-methyl-D-aspartate receptor encephalitis, anti-α-amine-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptor encephalitis, anti-gamma-aminobutyric acid receptor 1 encephalitis and anti-leucine-rich glioma-inactivated 1 encephalitis) including their epidemiology, clinical characteristics and treatment.

[Autoimmune synaptic encephalitis]. / To danske tilfælde af autoimmun synaptisk encefalitis.

Autoimmune synaptic encephalitis (ASE) is a recently recognized disease entity. The early and correct diagnosis of ASE is of importance, since the prognosis depends on the early onset of treatment. We present two Danish case reports of ASE: a 15-year-old boy presenting with a severe course of N-methyl-D-aspartate-encephalitis including persistent cognitive deficits, and a 59-year-old woman with coeliac disease presenting with leucine-rich glioma inactivated 1-encephalitis including dyskinesia, epilepsy, psychiatric features and vocal tics.