Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.

INTRODUCTION: ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which show a wide clinical spectrum of presentation. Despite that the clinical spectrum of the disease has not been defined so far due to the absence of previous systematic reviews and descriptions of large series of patients. METHODS: We performed a systematic literature review of so far reported ECHS1 mutated patients and we reported two additional cases. We pointed out clinical and neuroradiological features of all patients. RESULTS: 45 patients were included in the analysis. Based on clinical and neuroradiological feature we were able to distinguish four main phenotypes of ECHS1deficiency: a severe neonatal presentation with a rapid and fatal course and significant white matter abnormalities; a severe infantile variant with slower neurological deterioration, developmental delay, pyramidal and extrapyramidal signs, optic atrophy, feeding difficulties, and degeneration of the deep gray nuclei; a slowly progressive infantile form, qualitatively similar to the previous phenotype, but less severe with mainly basal ganglia involvement; and a final phenotype, present in only few cases, characterized by paroxysmal exercise-induced dystonic attacks, normal neurological examination between these episodes, and isolated pallidal degeneration on MRI. INTERPRETATION: ECHS1 mutations cause metabolic encephalopathy with a wide range of clinical presentations that can be grouped into four main phenotypes, each with a distinct profile in terms of severity on clinical presentation, disease course and MRI involvement.

Nutritional management of preterm newborn after hospital discharge: energy and nutrients.

Preterm infants are at risk for poor growth while in the Neonatal Intensive Care Unit (NICU) and after discharge from the NICU. The main objective is to reach the body composition and rate of growth of a normal fetus/infant of the same post-menstrual age during the first entire year of life. In case of human milk, the limited data do not provide convincing evidence that feeding preterm infants after discharge with multi-nutrient fortified human milk, compared with unfortified, affects important outcomes including growth rates during infancy. Conversely, if formula-fed, post discharge formulas produce short term advantages in growth rate but no long term advantages are demonstrated. It is very important to establish a feeding plan and a follow up for all preterm babies who are discharged from NICU in order to recognize as soon as possible any growth deficit.

Weaning and complementary feeding in preterm infants: management, timing and health outcome.

The introduction of solid food is necessary for any infant in order to provide adequate nutrition because when they grow up milk is insufficient for their nutritional needs. Infants born preterm have increased nutritional requirements. The high nutrient demands as well as the organ immaturity of preterm infants combine to render it difficult to achieve dietary intakes that will allow preterm infants to match their in utero growth rates. Current guidelines for the introduction of solid food to term infants cannot be directly translated to preterm infants. For preterm infants such guidelines are lacking. Based on the limited available evidence, it could be concluded that a corrected age of 3 months (13 weeks) may be an appropriate age to start introducing solid food for most preterm infants. About celiac disease (CD), gluten may be introduced into the infant's diet anytime between 4 and 12 completed months of age. In children at high risk for CD, earlier introduction of gluten (4 vs 6 months or 6 vs 12 months) is associated with earlier development of CD autoimmunity (defined as positive serology) and CD, but the cumulative incidence of each in later childhood is similar. Relatively to weaning and allergies, the European Society of Pediatric Allergy and Clinical Immunology and the European Society for Paediatric Gastroenterology Hepatology and Nutrition have produced joint guidelines. They recommend exclusive breastfeeding for 4-6 months or use of hypoallergenic formulas if exclusive breastfeeding is not possible. In addition, The American Academy of Pediatrics recommendations now state that there is no evidence to recommend maternal dietary restrictions during pregnancy or breastfeeding. However, there is no evidence that delaying introduction of solids including allergenic foods after 4-6 months is protective.

A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

Early myoclonic encephalopathy (EME) presents in neonatal period with erratic or fragmentary myoclonus and a burst-suppression electroencephalography (EEG) pattern. Nonketotic hyperglycinemia (NKH) is the most common metabolic cause of EME and genetic testing confirms the diagnosis of NKH in around 75% of the patients with a clinical diagnosis of NKH. Three genes are known to cause NKH. Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected.

Two cases of neonatal human parechovirus 3 encephalitis.

We report 2 neonates with human parechoviruses type 3 encephalitis. Both newborns presented with fever, irritability and seizures. Cerebrospinal fluid analyses were normal, but magnetic resonance imaging revealed white matter damage, suggesting human parechoviruse infection. Human parechoviruses type 3-RNA was detected in cerebrospinal fluid samples and in blood, stool, urine and respiratory samples, indicating the dissemination of the virus.

Teaching neuroimages: neonatal parechovirus encephalitis: typical MRI findings.

A full-term 9-day-old girl presented with fever, irritability, and seizures. The routine CSF examination, cranial ultrasound, and laboratory tests were normal. Brain MRI showed diffuse white matter abnormality (figure). Human parechovirus (HPeV) type 3 was isolated in both CSF and blood. The neurodevelopmental outcome at 4 months is poor, and MRI shows an extensive cystic leukomalacia in the frontal white matter.

Effect of changes in inspired oxygen tension on indexes of oxygenation in ventilated neonates.

OBJECTIVE: Several indexes are used to quantify the severity of hypoxemia, including the arterial to alveolar oxygen ratio (a/APO(2)), the alveolar-arterial difference P(a-a)o(2), the ratio Pao(2)/Fio(2), and the oxygenation index (OI = mean airway pressure x Pao(2)/Fio(2)). This study was carried out to test how stable these indexes are when small changes in Fio(2) are made in ventilated neonates. DESIGN: Open prospective clinical study. SETTING: Level III neonatal intensive care unit of a teaching hospital. PATIENTS: Forty studies were performed in 31 clinically stable ventilated neonates (median birth weight, 1450 g; median gestation, 30.6 wks), monitored by transcutaneous Pao(2)-oxygen saturation (Sao(2)). INTERVENTIONS: If hyper- or hypoxemia without derangements of Paco(2) or pH were detected in a blood sample taken from an indwelling arterial catheter, Fio(2) was changed (median change, 0.05; range, -0.3 to 0.25) and another arterial blood sample was obtained 26-83 mins (median, 42) after. The indexes were calculated in the two blood samples, and for each index the changes between baseline and the value after Fio(2) change were analyzed. MEASUREMENTS AND MAIN RESULTS: Median baseline P(a-a)o(2) was 211.7 torr, median a/APO(2) was 0.24, median Pao(2)/Fio(2) was 161 torr, and median OI was 6.14. After the Fio(2) change, the coefficients of variation (sd/mean) were calculated, and they were 27.5%, 23.8%, 24.5%, and 31.6% for P(a-a)o(2), a/APO(2), Pao(2)/Fio(2), and OI, respectively. Changes in the value of each index were correlated to changes in Fio(2), indicating a dependency on Fio(2). When data were analyzed as "high Fio(2)" (approximate Sao(2) 95%) vs. "low Fio(2)" (approximate Sao(2) 90%), differences were statistically significant for all indexes except for a/APO(2). CONCLUSIONS: All the indexes tested showed a dependency on the value of Fio(2): increasing Fio(2) spuriously made neonates appear less hypoxemic. The a/APO(2) appeared to perform better than other indexes in this study, with a lower variability and a lower oxygen dependency.