Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a 4-month-old Chinese male infant who presented with a severe BSCL "cardiac" phenotype comprising heart failure, hypertension and hypertrophic cardiomyopathy.

[Pulmonary complications during parenteral feeding via percutaneous silicon catheters]. / Complicaciones pulmonares durante la nutrición parenteral con catéteres siliconados percutáneos.

Percutaneous fine bore silicone central catheters are frequently used in sick full term newborns and in low birth weight premature infants; although their use has some risks. We report two cases of pleural effusion in two prematures of 34 and 33 weeks gestation and birth weight of 1,510 and 1,650 g, respectively; and one case neumonitis in a newborn of a 38 weeks gestation and 2,730 g birth weight. All of them have in common same initial clinical sign: increase mucus secretion of the upper airway a few hours after the beginning of parenteral nutrition using the type of catheter mentioned with the tip abnormally located in pulmonary artery. These complications are probably related to endothelial injury of very slow flow vessels due to the high osmolarity and low pH of the parenteral solutions used; which probably, in turn, produce thrombosis and vascular perforation, and/or extravasation. We suggest to suspect a pulmonary artery abnormally located catheter in patients receiving parenteral nutrition who increase upper airway mucus secretion. The rapid correction of the position would prevent major complications.

Cutis marmorata telangiectatica congenita or neonatal lupus?

Cutis marmorata telangiectatica congenita (CMTC) is a cutaneous vascular abnormality characterized by a persistent cutis marmorata pattern, spider nevuslike telangiectasia, and superficial ulceration. An infant girl was noted at birth to have characteristic features of CMTC as well as anti-Ro/SSA antibodies and a positive autonuclear antibody (ANA) test. Serologic studies carried out on her mother were positive for Ro/SSA antibodies as well as ANA (titer 1:2560). Therefore the diagnosis of neonatal lupus was made. We propose that livedo patterns mimicking CMTC might sometimes represent the residual phase of neonatal lupus active during intrauterine life.

[Invasive Streptococcus agalactiae infections at a general university hospital over a 10-year period]. / Infecciones invasivas por Streptococcus agalactiae en un hospital general universitario durante un período de 10 años.

BACKGROUND: Streptococcus agalactiae is a known causal agent of neonatal meningitis, sepsis and puerperal infections. The incidence of invasive infections caused by Streptococcus agalactiae has increased in recent years in non gestating adults: in the elderly, patients receiving prolonged steroid treatment or those with chronic immunosuppressive diseases. The clinical and epidemiological characteristics and risk factors associated to invasive infections caused by S. agalactiae were analyzed. METHOD: A retrospective study was undertaken in patients with invasive disease by S. agalactiae attended in the Hospital Universitari Germans Trias i Pujol in Badalona (Barcelona), Spain, from 1983 to 1993. RESULTS: S. agalactiae was isolated in 51 patients including 13 (25%) neonates. Three patients presented invasive puerperal infection. Thirty-five adult patients with a mean age of 62 years presented invasive disease. Infection involved bacteremia in 26 (74.2%) patients. S. agalactiae was isolated in the ascitic fluid of 4 patients with liver cirrhosis with spontaneous bacterial peritonitis (one with bacteriemia) and in the peritoneal exudate of two patients with peritonitis secondary to intestinal perforation. Of 5 patients with septic arthritis, 3 involved bacteremia. Two patients presented empyema by S. agalactiae. Mortality was 28%, being directly related with infection in 4 cases (7.8%). CONCLUSIONS: Without taking pregnant women into account, 68% of the cases of invasive infections by S. agalactiae were observed in adults with associated base disease, with liver cirrhosis, neoplasms and diabetes mellitus being the most frequent. Advanced age was also found to be an important predisposing factor.

Neonatal survival after preterm premature rupture of membranes secondary to first trimester chorionic villus sampling.

A case of preterm premature rupture of membranes (PROM) secondary to first trimester chorial biopsy is described. The newborn survived and physical and psychological development was normal at 1 year of age. On review of the literature, different attitudes may be found with regard to the treatment of PROM: some authors prefer expectant management while others defend extraction of the fetus when reasonable maturity is reached. In both cases the outcome is usually poor for the fetus.

Sterile transient neonatal pustulosis is a precocious form of erythema toxicum neonatorum.

A sterile pustular skin eruption was observed in 17 of 3,541 newborn infants examined over a period of 30 months. The skin eruption was always present at birth and fulfilled the clinical criteria of transient neonatal pustular melanosis (TNPM). However, some days after birth, all of them but 1 developed skin lesions typical of erythema toxicum neonatorum (ETN). Histological examination of 11 biopsies obtained at the age of 1 day showed intracorneal neutrophilic pustules in 4 and subcorneal intraepidermic eosinophilic pustules in 7. On the basis of our findings and a literature review we consider that a clear-cut differentiation between TNPM and ETN is not always possible. We propose the name sterile transient neonatal pustulosis to unify these conditions.