Multiple-organ failure as a result of non-COVID-19 coronavirus infection.

Coronavirus infections (CoV) are common in pediatric patients. In general, they produce a mild clinical presentation consisting of an upper respiratory tract infection that does not usually infect the lungs, with the exception of preterm infants and children with chronic diseases. These infections exceptionally affect other organs (heart, brain, gastrointestinal tract), thus increasing their severity.

Intercenter variability and factors associated with survival without bronchopulmonary dysplasia in extremely preterm newborns.

Variability in clinical practice may influence morbidity and mortality in extremely preterm infants. We aimed to know if there are differences in survival and survival without bronchopulmonary dysplasia (BPD) in extremely preterm infants in Spanish tertiary hospitals and the potential associated factors. Fifteen hospitals from the SEN1500 network were studied.

Perinatal risk factors for pneumothorax and morbidity and mortality in very low birth weight infants.

Aim: To determine the perinatal risk factors for pneumothorax in Very-Low-Birth-Weight (VLBW) infants and the associated morbidity and mortality in this population.

Methods: Retrospective analysis of data collected prospectively from a cohort of VLBW neonates assisted in our Unit (2006-2013). We included all consecutive in-born patients with ≤ 1500 g, without severe congenital anomalies.

[Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].

Introduction: Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature. The levels of genes stimulated by interferon has been postulated as a good biomarker, as they remain high in peripheral blood over time and are more sensitive, in comparison to determinations of interferon alpha and neopterins in cerebrospinal fluid, which descend as of one year of life.

[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome].

Introduction: Hereditary spastic paraplegia (HSP) is a set of neurodegenerative clinical features characterised by a progressive loss of strength in the lower limbs together with spasticity. It is the result of an axonal lesion in the corticospinal tracts. Type 1, known as SPG1, is the most common form of X-linked HSP.

[Paroxysmal stereotypy-tic-dystonia syndrome].

Case Reports: We report the cases of four males from four different families, who presented paroxysmal episodes from the 1st 2nd year. These episodes were characterised by asymmetrical bilateral dystonia of the upper limbs, predominantly in both hands, and were associated with orofacial dyskinesias, stereotipies (jumping, arm flapping, etc.), facial tics and, occasionally, phonic tics.

[West's syndrome associated with inversion duplication of chromosome 15].

We describe a five year old boy with inversion duplication of chromosome 15 (inv dup (15)) who, at the age of six months had started to develop West's syndrome. He later developed cryptogenic myoclonic epilepsy which was resistant to medication. On examination there was dysmorphia, overall hypotonia and diffuse pyramidalism.

Segmental cecal dilatation with absent appendix: a case of failure of appendiceal regression?

A rare intestinal malformation is reported in a boy 11 years old with a 3-year history of abdominal pain and chronic anemia. Laparotomy revealed a large cecal mass extending beyond the ileocecal valve in the place of the appendix, with bleeding mucosal ulcers.