Claudia Piona

Minor diplotypes of FMO3 might protect children and adolescents from obesity and insulin resistance

In order to assess whether flavin-containing monooxygenase-3 (FMO3) might be involved in early cardiovascular risk, we assessed adiposity and traditional metabolic variables in children/adolescents grouped according to their genotypes in two FMO3 exonic polymorphisms, rs2266782 (E158K) and rs2266780 (E308G), which are in linkage disequilibrium and have been associated with decreased FMO3 activity. Among 776 children/adolescents (10.8 ± 2.2 years) recruited from the general population (452) and from our obesity outpatient clinic (324), the 68 carrying either the 158K–308G/158K–308E or the 158K–308G/158K–308G diplotype had lower mean z-BMI and prevalence of obesity compared to their 708 peers carrying any of the other diplotypes (0.39 vs 0.80, p = 0.01; OR = 0.39[0.17–0.87], p = 0.018, respectively), and to the sub-sample of 303 children carrying the major diplotype (158E–308E/158E–308E) (0.39 vs 0.87, p = 0.008; OR = 0.35[0.16–0.81], p = 0.014, respectively). They also had lower z-BMI-adjusted lnHOMA-IR compared to all the other children (0.75 vs 0.97, p = 0.001) and those carrying the major diplotype, (0.75 vs 0.98, p = 0.03), as well as lower z-BMI-adjusted iln-triglycerides compared to all the other children (3.98 vs 4.17, p = 0.037). These associations provide the first evidence that FMO3 may be involved in early body weight, insulin sensitivity, and lipid regulation in humans.

Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate

The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). edpract;archdischild-2017-314021v2/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation. QUESTIONS 1: What investigations would you think of in a baby with limb hypertrophy and a vascular malformation? Limb X-rays followed by abdominal and limb CT scanLimb muscles and soft tissues MRIKidney and limb ultrasound followed by abdominal and limb CT scanThigh, leg and abdominal MRI and in second instance brain MRIThigh, leg and abdominal CT scan and brain MRI. QUESTIONS 2: Which overgrowth syndrome includes limb hypertrophy, skin vascular malformations and bilateral hydroureteronephrosis?Neurofibromatosis type ISotos syndromeBeckwith-Wiedemann syndromeMadelungs diseasePIK3CA-related overgrowth spectrum (PROS) disorder. Answers to the questions are on page 02 Answers to the questions on page 1.

Painless bilateral swelling of the face: think about cherubism

A 4-year-old Caucasian male child was referred to our padiatric clinic with bilateral facial swelling. When he was 3 years old, he had started to develop an enlargement of the cervical lymph nodes and of the jaw, which gave him a full-faced cherubic appearance (figure 1). Clinical examination revealed swelling of both rami of the mandible with bilateral expansion of the mandibular angle extending to the molar and retromolar regions. Panoramic radiography showed generalised multicystic bilateral radiolucent lytic …