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.

Gut Microbiota and Obesity in Adults and Children: The State of the Art.

In recent decades, obesity has become a serious public health problem affecting both children and adults. Considering the multifactorial origin of obesity, including modifiable factors, childhood was identified as the golden age for investing in obesity prevention by both promoting proper lifestyles and actively intervening in possible triggers. The gut microbiota is at the center of the most recent scientific studies and plays a key role in obesity development because it is intimately linked to energetic-humoral variations in the host: its alterations can promote a state of excessive energy storage, and it can be manipulated to maintain energy homoeostasis. This review aims to offer a panoramic understanding of the interplay between obesity and the gut microbiota, focusing on the contribution that the gut microbiota could have to the prevention of childhood obesity and its complications in adulthood. Currently, the use of some specific probiotic strains has been shown to be able to act on some secondary metabolic consequences of obesity (such as liver steatosis and insulin resistance) without any effect on weight loss. Although definitive conclusions cannot be drawn on the real impact of probiotics and prebiotics, there is no doubt that they represent an exciting new frontier in the treatment of obesity and associated metabolic dysfunctions. Targeted studies randomized on specific populations and homogeneous for ethnicity, sex, and age are urgently needed to reach definitive conclusions about the influence of microbiota on weight. In particular, we still need more studies in the pediatric population to better understand when the switch to an obese-like gut microbiota takes place and to better comprehend the right timing of each intervention, including the use of pre/probiotics, to improve it.

SARS-CoV-2 infection in children in Parma.

not available.