Inés García-García

Congenital EWS/pPNET presenting as a neck mass.

To the Editor: Ewing sarcoma and peripheral primitive neuroectodermal tumor (EWS/pPNET) belong to the same group of tumors collectively termed Ewing sarcoma family of tumors (ESFT). These tumors are characterized by the same molecular translocations and immunophenotyping [1]. They are blue round cell sarcomas with varying degree of neuroectodermal differentiation [2]. EWS/pPNET are tumors that usually affect adolescents or young adults and rarely occur in newborns. The most common locations are the chest wall, abdomen, and extremities [3]. The median age at diagnosis is 14– 22 years, with 70–80% of cases presenting at or before 20 years of age. In the series of Coffin and Dehner, they constituted 4% of pediatric soft tissue tumors. Only 14% of cases occur in children younger than 5 years of age [4]. Thirteen cases of congenital pPNET have been reported in the English literature and none of them had arisen in the neck area [5–7]. A 36 weeks pregnant woman was referred to our institution due to prenatal diagnosis of a rapidly growing mass protruding from the right side of the neck of the fetus. At birth, a lobulated mass, with active bleeding through a laceration which occurred during C-section, was seen protruding from the infant’s neck. A gauze packing was placed in an attempt to control the bleeding. However, in spite of multiple interventions, the patient died 14 hr after birth. The autopsy revealed a mass measuring 13 cm 10 cm 7 cm and weighing 400 g arising from the soft tissues of the neck without involvement of any other structure (Fig. 1). Microscopically, the tumor cells were uniform and small with clear cytoplasm and round nucleus containing fine chromatin. Rosettes were easily seen (Supplementary Fig. 2). Immunostain for MIC 2 (CD-99, O13) showed intense membranous immunoreaction. LCA, desmin, chromogranin, S-100, NSE, and GFAP were negative. The diagnosis of EWS/pPNET was established. Cytogenetic studies were not performed. There was no evidence of metastatic disease. Congenital masses of the neck are often benign. Congenital malignant tumors are rare, accounting for 0.5–2% of all childhood malignancies [5,6]. The differential diagnosis of congenital neck masses includes teratoma, neuroblastoma, rhabdomyosarcoma, hemangioma, vascular, and lymphatic malformations. Immunohistochemistry and molecular/genetic studies are fundamental in the differential diagnosis. MIC2 is a highly reliable marker for the ESFT; however, the use of a panel of antibodies is necessary because the expression of the MIC2 is not entirely restricted to the ESFT [4,8]. The majority of tumors in the Ewing sarcoma family express either a t(11;22)(q24;q12), t(21;22)(q22;q12), or t(7;22)(p22;q12) translocations [2,4,9]. ESFT are highly aggressive malignancies with a grisly prognosis. Although rare in that location, they should be considered in the differential diagnosis of malignant tumors of the neck area in the neonatal period.

Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects.

Folic acid supplementation can reduce the incidence of neural tube defects. The first reported genetic risk factor for neural tube defects is a C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme. We examined the enzyme mutation role of methylenetetrahydrofolate reductase in the etiology of neural tube defects in our population. The study group consisted of 204 Puerto Rican individuals including 37 pregnant females with a prenatal diagnosis of neural tube defects in their fetuses, 31 newborns, 36 fathers, and 100 healthy adults. The prevalence of the C677T mutation was examined. Homozygosity for the alanine to valine substitution (TT) was observed in 9% of the controls and 19% of the mothers with children with neural tube defects. Our results indicate that the presence of the T allele at the methylenetetrahydrofolate reductase 677 position may increase the risk of giving birth to an infant with a neural tube defect. (J Child Neurol 2002;17:30-32).

Perinatally Acquired Chikungunya Infection: The Puerto Rico Experience.

for varicella from January 2004 to November 2011 at Bambino Gesù Children Hospital, Roma, Italy. Neurologic complications occurred in 21.7%. The pooled prevalence of neurologic complications resulting from a systematic review of the literature from January 1990 to January 2012 identified the likelihood of pediatric neurologic complications in the 13.9%–20.4%. We speculate that the different incidences in neurologic complications may be due to the age of patients included in the study, to a different sociodemographic structure of the population or to different hospitalization policies. Finally, the authors show the highest rate of hospitalizations in years 2011 to 2013 resulting from varicella complications. They speculate that this should be the consequence of the economic crisis, “with long working hours for parents limiting early presentation for care.” We speculate that the delay in hospital admission can be due to a public perception of varicella infection as a harmless childhood affliction. In fact, media are known to be able to influence the population even on health decisions. In particular, the use of the internet to search for medical and health-related information is increasing. Unfortunately, it is associated with concerns about both the quality and the safety of immunization policy and of medical treatment. Finally, pediatricians may have underestimated the potential risk of varicella, considering it a benign acute disease, possibly contributing to the delay of primary care.