Neonatal diagnosis of circumferential skin creases.

BACKGROUND: Circumferential skin creases is a rare and heterogeneous disorder characterized by multiple and redundant skin folds, which can present as an isolated feature or in association with other phenotypic anomalies. Here, we report the case of a newborn who immediately captured our attention because of his phenotype. CASE: A male Caucasian infant was born at 39 weeks and 4 days of gestational age with an instrumental delivery, after a pregnancy characterized by threat of preterm birth at 32 weeks. Fetal ultrasounds were reported to be normal. The patient was the first child of non-consanguineous parents. Anthropometry at birth: weight 3.590 kg (0.57 SDS); length 53 cm (1.73 SDS); cranial circumference 35.5 cm (0.83 SDS). Clinical examination soon after birth revealed multiple, asymmetric and deep skin folds involving forearms, legs and lower eyelids (right > left). These folds seemed not to cause any physical discomfort. In addition, hypertrichosis, micrognathia, low-set ears and a thin, down-turned border of upper lip were observed. Cardio-respiratory, abdominal and neurological examination was unremarkable. There was no family history of similar appearance or other physical abnormalities. Given the clinical picture, an array-CGH was performed, which was normal. A genetic counseling was requested and Circumferential Skin Creases disorder was diagnosed based on the typical cutaneous involvement and, given the absence of other clinical signs, it was supposed a benign evolution, with skin folds tending to disappear over time. In addition, the baby's DNA was requested for a targeted genetic analysis, which resulted negative. CONCLUSIONS: This clinical case underlines the need of performing a detailed neonatal physical examination in order to realize a timely diagnostic approach. Our patient presented with multiple skin folds, facial dysmorphism but normal systemic and neurological examination. Anyways, since Circumferential Skin Creases may be associated with later neurological symptoms, a regular reevaluation is recommended.

Severe Hypercapnia Requiring 48-h Whole-Body Hypothermia in an Infant with Acute Bronchiolitis.

Bronchiolitis is a clinical syndrome involving the lower respiratory tract of infants and young children. The majority of patients recover using adequate hydration and oxygen (O2) therapy, while a small number of patients require ventilatory assistance. Beyond these therapeutical approaches, there are no available strategies for patients that do not improve. Hypothermia is a measure used to prevent neonatal hypoxic-ischemic encephalopathy by preventing carbon dioxide (CO2) production and subsequent tissue damage. Other medical applications of hypothermia have been proposed, such as in acute respiratory failure and necrotizing colitis. Case report: We report the case of a 50-day-old girl hospitalized with severe bronchiolitis caused by respiratory syncytial virus. On admission, the girl presented severe hypercapnic respiratory failure, requiring intubation and ventilatory support with conventional and non-conventional systems. However, the patient's general conditions worsened with elevated O2 demand, thus whole-body hypothermia was attempted and performed for 48 h, with a gradual improvement in the respiratory function. No adverse effects were detected. Conclusions: Whole-body hypothermia could have a critical role as a rescue treatment in infants affected by severe hypercapnic respiratory failure, at the expense of few and rare side effects (bradycardia, coagulopathy, hyperglycemia). Notably, beyond reducing CO2 production, whole-body hypothermia might have an impact in restoring lung function in newborns using bronchiolitis refractory to maximal medical therapy and invasive ventilation.

Successful lung response after surgical repair in an infant with right-sided congenital diaphragmatic hernia.

Congenital diaphragmatic hernia is a rare condition associated with pulmonary complications as the abdominal viscera herniated into the chest may affect lungs development. We present the case of a male newborn baby with a prenatal diagnosis of a posterolateral defect (Bochdalek hernia) involving the right side. The infant underwent surgical repair at 3 days of life, and the post-surgery chest X-ray did not reveal morpho-structural alterations of the lungs and diaphragmatic profile. Our clinical case shows that patients may have a better lung outcome despite an initial unfavorable picture. Prenatal diagnosis is essential in identifying infants with congenital diaphragmatic hernia, especially those cases at higher risk for the worse outcomes, to optimize their clinical and surgical management.