A novel mutation of laminin ß-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.

Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.

Spectrum of Brevundimonas vesicularis infections in neonatal period: a case series at a tertiary referral center.

OBJECTIVES: To report infections caused by Brevundimonas vesicularis and the treatment regimens administered based on antibiotic studies of this Gram-negative bacterium in the neonatal period. PATIENTS AND METHODS: Eight hospitalized neonates with positive blood cultures for Brevundimonas spp. were studied. Demographic data, clinical and laboratory findings, nutritional regimens, presence of primary disease, and the antibiotic regimens administered during the treatment of these neonates were noted. Antimicrobial susceptibility tests were performed on isolates of the positive cultures. RESULT: Four neonates were preterm, and four were full-term infants. The underlying diseases--with the exception of being a neonate--were congenital heart disease (4 patients), respiratory distress syndrome (2), multiple congenital cerebral anomalies (1), and meconium aspiration syndrome (1). Septicemia was observed in all eight patients, while three also had concurrent meningitis. Multidrug resistance to the antimicrobials, including piperacillin-tazobactam, ceftazidime, and aztreonam, were identified in all eight infants; however, susceptibility to amikacin and imipenem was retained. All study patients responded to the antibiotic treatments and subsequent cultures were sterile. One patient died due to other causes. CONCLUSIONS: We consider that until larger series are available, B. vesicularis should be regarded as virulent. Consequently, in this era of multi-resistant Gram-negative bacteria, serious B. vesicularis infections in neonates should be treated with a broad-spectrum agent, such as third-generation cephalosporin until the results of susceptibility testing are available. Our case reports demonstrate that the susceptibility of this organism to all aminoglycosides and third-generation cephalosporin is not uniform, but that most of the isolates are susceptible to imipenem. More treatment experience and more exact results from antimicrobial susceptibility testing are required to improve on present treatment regimens for invasive B. vesicularis infections.

A linear fracture and meningitis associated with non-infected cephalohematoma in a neonate.

We present a neonate with cephalohematoma complicated by a linear skull fracture and Staphylococcus epidermidis meningitis. Clinicians, especially neonatologists, should be aware that a cephalohematoma in the newborn infant with a history of vacuum-assisted delivery could be the origin or trigger point of the infection either as sepsis, meningitis or osteomyelitis. The utmost importance of screening studies should be emphasized in order to be aware of the pathogenic potential of cephalohematomas.