Advances in paediatrics in 2019: current practices and challenges in allergy, endocrinology, gastroenterology, public health, neonatology, nutrition, nephrology, neurology, respiratory diseases and rheumatic diseases.

We highlight the main developments that have been published during the first semester of the last year in the Italian Journal of Pediatrics. We have carefully chosen information from numerous exciting progresses issued in the Journal in the field of allergy, endocrinology, gastroenterology, neonatology, nutrition, nephrology, neurology, public health, respiratory diseases and rheumatic diseases. The impact on the care of patients has been placed in the broader context of studies that appeared in other journals. We think that many observations can be used directly to upgrade management of patients.

Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation.

Desmoplastic fibroma of the mandible.

We report the imaging findings of a desmoplastic fibroma (DF) of the mandible in a 3 years old girl. DF of bone is a rare, no-metastasizing but locally aggressive tumor. Hypercellularity, nuclear pleomorphism, mitotic activity, and traces of odontogenic epithelium and bony tissue are absent. US exam showed a highly vascular and well delimited mass, with no necrotic/hemorrhagic areas. It appeared as a well-defined osteolytic region in RX and a multiloculated, hypodense mass, with no periosteal reaction signs, in CT scans. MRI showed hypointensity in T1w TSE sequence and hyperintensity both in T1w TSE SPIR and T2w ones with no restriction of the "apparent diffusion coefficient" (ADC). In conclusion, remaining histology the gold standard for the DF diagnosis, imaging features may strongly suggest it.

Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?

We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation. Bilateral restricted elbow extension, knock knees and hip dislocation were also present. Radiographs showed evidence of radial dislocation due to the absence of the radial heads, lateral dislocation of both patellae, multiple epiphyseal dysplasia that was more severe at the proximal femoral epiphyses, and dislocation of both hips with severe hip dysplasia. The patient developed a behavioral disorder at age 15. Conventional karyotyping was normal (46,XY). Molecular karyotyping, performed through array-based competitive genomic hybridization, showed copy number variants that were probably benign. We suggest that multiple joint dislocations, including the patellae, may be a sign of Lowry-Wood syndrome.

Idiopathic hypercalciuria in infants with renal stones.

In children older than 2 years, hypercalciuria is the most common metabolic cause of renal stones. In infants, its prevalence is not well established. Since 1990, we observed five infants in whom renal stones or microcalculi were diagnosed between the age of 5 and 19 months. One of them was lost to follow up. In the present report, we describe the four patients who underwent metabolic evaluation and in whom idiopathic hypercalciuria (IH) was diagnosed. We conclude that IH is a frequent cause of microcalculi and renal stones in infants, and a screen for this condition is warranted in this age group.