Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction. Abdominal US showed bilateral increased echogenicity of the kidneys, with poor corticomedullary differentiation, and a slightly enlarged liver with diffuse irregular echotexture. Initial MRI of the brain, performed at presentation, showed areas of gliosis with encephalomalacia and diffused hypo/delayed myelination, and a thinned appearance of the middle and anterior cerebral arteries. Genetic analysis evidenced a novel homozygous pathogenic variant of the pericentrin (PCNT) gene. PCNT is a structural protein expressed in the centrosome that plays a role in anchoring of protein complexes, regulation of the mitotic cycle, and cell proliferation. Loss-of-function variants of this gene are responsible for microcephalic osteodysplastic primordial dwarfism type II (MOPDII), a rare inherited autosomal recessive disorder. The boy died at 8 years of age as a result of an intracranial hemorrhage due to a cerebral aneurism associated with the Moyamoya malformation. In confirmation of previously published results, intracranial anomalies and kidney findings were evidenced very early in life. For this reason, we suggest including MRI of the brain with angiography as soon as possible after diagnosis in follow-up of MODPII, in order to identify and prevent complications related to vascular anomalies and multiorgan failure.

A Case of Atypical Bartonellosis in a 4-Year-Old Immunocompetent Child.

In most cases, infection due to Bartonella henselae causes a mild disease presenting with a regional lymphadenopathy frequently associated with a low-grade fever, headache, poor appetite and exhaustion that spontaneously resolves itself in a few weeks. As the infection is generally transmitted by cats through scratching or biting, the disease is named cat scratch disease (CSD). However, in 5-20% of cases, mainly in immunocompromised patients, systemic involvement can occur and CSD may result in major illness. This report describes a case of systemic CSD diagnosed in an immunocompetent 4-year-old child that can be used as an example of the problems that pediatricians must solve to reach a diagnosis of atypical CSD. Despite the child's lack of history suggesting any contact with cats and the absence of regional lymphadenopathy, the presence of a high fever, deterioration of their general condition, increased inflammatory biomarkers, hepatosplenic lesions (i.e., multiple abscesses), pericardial effusion with mild mitral valve regurgitation and a mild dilatation of the proximal and medial portion of the right coronary artery, seroconversion for B. henselae (IgG 1:256) supported the diagnosis of atypical CSD. Administration of oral azithromycin was initiated (10 mg/kg/die for 3 days) with a progressive normalization of clinical, laboratory and US hepatosplenic and cardiac findings. This case shows that the diagnosis of atypical CSD is challenging. The nonspecific, composite and variable clinical features of this disease require a careful evaluation in order to achieve a precise diagnosis and to avoid both a delayed diagnosis and therapy with a risk of negative evolution.

From Placenta to Polycystic Ovarian Syndrome: The Role of Adipokines.

Adipokines are cytokines produced mainly by adipose tissue, besides many other tissues such as placenta, ovaries, peripheral-blood mononuclear cells, liver, muscle, kidney, heart, and bone marrow. Adipokines play a significant role in the metabolic syndrome and in cardiovascular diseases, have implications in regulating insulin sensitivity and inflammation, and have significant effects on growth and reproductive function. The objective of this review was to analyze the functions known today of adiponectin, leptin, resistin, and visfatin from placenta throughout childhood and adolescence. It is well known now that their serum concentrations during pregnancy and lactation have long-term effects beyond the fetus and newborn. With regard to puberty, adipokines are involved in the regulation of the relationship between nutritional status and normal physiology or disorders of puberty and altered gonadal function, as, for example, premature pubarche and polycystic ovarian syndrome (PCOS). Cytokines are involved in the maturation of oocytes and in the regular progression of puberty and pregnancy.

The impact of the Italian guidelines on antibiotic prescription practices for acute otitis media in a paediatric emergency setting.

BACKGROUND: Acute otitis media (AOM) is one of the most common childhood infectious diseases. The recent Italian Pediatric Guidelines for the treatment of AOM constitutes a step forward in the management of children with uncomplicated AOM. The aim of this study was to evaluate antibiotic prescription patterns for AOM in a Pediatric Emergency Department (PED) after those guidelines were introduced and to assess the relationship between implementation of the "watchful waiting" strategy and the incidence of acute mastoiditis in the PED. METHODS: This retrospective study was conducted between 1st January 2007 to 31st December 2013 at the PED of the University of Modena and Reggio Emilia in Modena (Italy). All children between 0 and 14 years who were examined because of symptoms and/or signs of AOM and acute mastoiditis were enrolled. Pearson's chi-squared test was used to evaluate if introduction of the Italian Paediatric Guidelines was associated with a reduction in the antibiotic prescription pattern in children with AOM and/or with an increase in mastoiditis frequency. RESULTS: 4,573 (89.4%) patients were included in our analysis, antibiotics were prescribed to 81% cases of the children diagnosed with AOM. The frequency of antibiotic prescribing continued to be stable after the Italian guidelines were introduced (82% versus 81%). Forty children were admitted to hospital with a diagnosis of acute mastoiditis. Our study did not find any association between the number of cases of acute mastoiditis and the percentage of patients treated with antibiotics; the annual incidence of mastoiditis before and after the new guidelines were published was, in fact, stable. CONCLUSIONS: Despite the diffusion of clinical guidelines recommending a "watchful waiting" approach for children with AOM, the antibiotic prescription rate continues to be high. It appears to be more difficult to impact the percentage of cases for which antibiotics are prescribed than the type of antibiotic that is utilized. In view of these findings, a close follow-up control by the primary care paediatrician or a scheduled follow-up appointment at the PED and incisive campaigns to promote parents' awareness of proper antibiotic use appear to be warranted.

Longitudinal evaluation of endothelial function in children and adolescents with type 1 diabetes mellitus: a long-term follow-up study.

BACKGROUND: Type 1 diabetes (T1DM) predisposes to cardiovascular disease, increasing the risk to develop atherosclerosis. In the pediatric population, the cardiovascular risk may be evaluated examining endothelial function by a non-invasive ultrasound technique, namely flow-mediated dilation (FMD) of the brachial artery. The aims of this study were the longitudinal evaluation of the potential change in the endothelium-dependent vasomotor function in children and adolescents with T1DM and the identification of clinical and laboratory data correlated to modifications. METHODS: We studied 39 T1DM patients (20 girls and 19 boys; aged 11.2 ± 3.72 years). FMD and blood samples were obtained from all patients at baseline (time 0) and after a follow up of at least 1 year (time 1). FMD was also evaluated in 45 healthy controls (22 boys, 23 girls) aged 10.2 ± 3.05 years. RESULTS: At time 0, 43.6% of T1DM patients presented an impaired FMD. FMD at time 1 revealed a dramatic impairment of endothelial function: altered FMD values were shown in 61.5% of patients and it got worse in 74.3% of them. Longitudinally, boys had a greater impairment of FMD than girls. At baseline, multivariate analysis identified only sex as significant predictor of FMD (ß = 0.470, P = 0.029). CONCLUSIONS: Because endothelial dysfunction appears earlier in diabetic children, they are at higher risk to develop atherosclerosis. Our results suggest the usefulness of FMD as a tool to stratify pediatric T1DM patients according to their cardiovascular risk and to follow them up longitudinally.