Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.

BACKGROUND: Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. CASE PRESENTATION: We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. CONCLUSIONS: We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disorder led to respiratory failure during infancy and these pulmonary complications may be the first sign of this disorder. Early recognition with thoracic imaging is important to guide genetic testing, neuroimaging and to define optimal timing of potential therapies, such as lung transplant in progressive lung disease.

Respiratory Changes in Ventilated and Not-Ventilated Neonates During and After Whole-Body Hypothermia: A Multicenter Retrospective Study.

The aim of this study was to describe whether whole-body hypothermia induced different respiratory changes in both invasively and noninvasively ventilated newborns and spontaneously breathing asphyxiated newborns during the course and after therapeutic hypothermia (TH). Data of 44 asphyxiated newborns undergoing TH at five different neonatal intensive care units in southern Italy were collected retrospectively between January 2018 and January 2021. For each type of ventilation, patient data on pH, partial pressure of Carbon Dioxide (pCO2), base excess, lactate, and heart rate were recorded before cooling was started and at 24, 48, 72, and 96 hours from its initiation. Patients were later subgrouped into spontaneously breathing, noninvasively ventilated, and mechanically ventilated groups. The average trend of each parameter was reported, and a nonparametric statistical analysis of differences among groups before initiation and at 96 hours was performed using the Kruskal-Wallis test. Our results confirmed previous findings (supported by a small amount of literature) that no increase in requests for respiratory support is recorded in asphyxiated newborns undergoing TH during and after the rewarming phase. Furthermore, no statistically significant differences in the analyzed parameters were found among spontaneously breathing, noninvasively ventilated, and mechanically ventilated newborns, suggesting that changes in parameters might be attributable to TH itself rather than to an improvement in the respiratory condition over time; otherwise, a difference between spontaneously breathing patients, by definition "stable" from a respiratory point of view, and those requiring any type of respiratory support would have been expected.

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and B (ETFs; ETFA or ETFB) or ETF dehydrogenase (ETFDH). The clinical manifestation of MADD are heterogeneous, from severe neonatal forms to mild late-onset forms. CASE PRESENTATION: We report the case of a preterm newborn who died a few days after birth for a severe picture of untreatable metabolic acidosis. The diagnosis of neonatal onset MADD was suggested on the basis of clinical features displaying congenital abnormalities and confirmed by the results of expanded newborn screening, which arrived the day the newborn died. Molecular genetic test revealed a homozygous indel variant c.606 + 1 _606 + 2insT in the ETFDH gene, localized in a canonical splite site. This variant, segregated from the two heterozygous parents, is not present in the general population frequency database and has never been reported in the literature. DISCUSSION AND CONCLUSION: Recently introduced Expanded Newborn Screening is very important for a timely diagnosis of Inherited Metabolic Disorders like MADD. In some cases which are the most severe, diagnosis may arrive after symptoms are already present or may be the neonate already died. This stress the importance of collecting all possible samples to give parents a proper diagnosis and a genetic counselling for future pregnacies.

Skin lesions in preterm and term newborns from Southern Italy and their relationship to neonatal, parental and pregnancy-related variables.

BACKGROUND: Cutaneous lesions are common in the neonatal period and usually physiological, transient and self-limited; infrequently, they are pathological and require treatment and collaboration between dermatologists and neonatologists. Particular conditions, like prematurity, can influence onset, type and evolution of cutaneous manifestations. Of the several articles in literature about skin findings in newborns, only few were performed in Southern European countries. We aimed to investigate dermatological findings in a sample of neonates within the first 7 days of life and to evaluate the association between skin lesions and neonatal, parental or pregnancy-related variables. METHODS: A total of 259 newborns, hospitalized in the Department of Pediatrics and Neonatal Intensive Care Unit, Barone Romeo Hospital, Patti (Messina), Italy, during a six months period, were examined. All skin findings were recorded and information on neonatal, parental and pregnancy-related variables was collected and analyzed to detect statistically significant associations. RESULTS: Skin lesions were present in 181 newborns (69.88%). Their frequency was significantly higher in those born to primigravida mothers (P=0.024). Erythema toxicum neonatorum prevalence was significantly higher (P=0.006) in term newborns. CONCLUSIONS: Skin findings are frequent in newborns and often cause concern in parents and physicians without specific experience. Thus, it is important to know and identify them promptly to avoid unnecessary diagnostic and therapeutic procedures.

Subcutaneous fat necrosis of the newborn: be aware of hypercalcaemia.

Subcutaneous fat necrosis of the newborn is an uncommon, self-limiting panniculitis that usually occurs in full-term infants as a consequence of perinatal asphyxia. The cutaneous involvement may be associated with metabolic complications such as hypoglycaemia, thrombocytopenia, hypertriglyceridemia, anemia and hypercalcaemia. The delayed onset of hypercalcaemia, 1-6 months after the development of the skin manifestations, imposes a prolonged follow-up to avoid its acute toxic effects on cardiovascular and renal systems and the more durable metastatic calcifications.