Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico.

Neonatal hyperglycemia is a metabolic disorder found in the neonatal intensive care units. Neonatal diabetes mellitus (NDM) is a very uncommon cause of hyperglycemia in the newborn, occurring in 1 in every 400,000 births. There are two subtypes of neonatal diabetes mellitus: permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). We describe a term, small for gestational age, female neonate with transient neonatal diabetes mellitus who presented with poor feeding tolerance and vomiting associated with hyperglycemia (385 mg/dL), glycosuria, and metabolic acidosis within the first 12 hours of life. The neonate was treated with intravenous insulin, obtaining a slight control of hyperglycemia. An adequate glycemia was achieved at 5 weeks of life. The molecular studies showed complete loss of maternal methylation at the TND differentially methylated region on chromosome 6q24. The etiology of this neonate's hyperglycemia was a hypomethylation of the maternal TND locus. A rare cause of neonatal diabetes mellitus must be considered if a neonate presents refractory hyperglycemia. To our knowledge, this is the first case reported in Puerto Rico of transient neonatal mellitus due to the uncommon mechanism of maternal hypomethylation of the TND locus. Its prevalence in Puerto Rico is unknown.

Prevalence of overweight and obesity in a group of children between the ages of 2 to 12 years old in Puerto Rico

BACKGROUND: Obesity in children has been related with co-morbid conditions being an important risk factor in adult morbidity and mortality. The objective of this study was to identify the prevalence of overweight /obesity in a group of children in Puerto Rico. METHODS: Participants included 158 children receiving pediatric care at the San Juan City Hospital and a primary care clinic. Body mass index (BMI) was calculated in children and parents. RESULTS: Fifty-six percent of children were overweight/obese as well as 61% of mothers and 75% of fathers. Using weight-height percentiles graphs, 49% of children were overweight. CONCLUSIONS: This study shows the high prevalence of overweight and obesity in children and their parents. Using the BMI for evaluating weight identified more children at risk than the traditionally used graphs. Identifying risk factors will help health care professionals and parents intervene to improve the health of these families.

Pulmonary hypoplasia in Jarcho-Levin syndrome

Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. Many patients die in early infancy due to respiratory compromise associated to lung restriction and the reported cases emphasize mostly the skeletal malformations associated to the syndrome. We report the autopsy findings in a newborn with isolated Jarcho-Levin syndrome emphasizing pulmonary pathology. He was a pre-term male who died of respiratory failure at three hours old and, autopsy findings confirmed the clinical diagnosis. Internal examination showed hypoplastic lungs with normal lobation. The histological structure appeared normal and relatively mature; the diaphragm showed eventration and unilateral absence of musculature. This case shows the worst spectum of the Jarcho-Levin syndrome: pulmonary hypoplasia not compatible with extrauterine life. Since thoracic restriction is present during the fetal period, the degree of pulmonary hypoplasia probably defines survival beyond the neonatal period.