Although recent advancements in DNA sequencing technologies and their widely used, the interpretation of variants of uncertain significance from these large datasets is not clear‐cut. Here, we present the case of a family referred to our metabolic disease department, in which three males' individuals were affected by a suspected a genetic inherited disease, resulting from next‐generation sequencing results. A correct assessment of the clinical significance of the genetic variant found in our cases, with a review of the literature, the evaluation of population database and the use of computational predictive program changed the initial suspect. Despite NGS technologies have increased diagnostic sensitivity, most of these variants remains of uncertain clinical significance. An efficient systematic approach is fundamental to determine the pathogenicity of a variant, avoiding incorrect interpretation in a clinical setting.

Objectives: We summarized the clinical and radiological characteristics of Meningitis-Retention Syndrome (MRS), its therapeutic options and urological outcome, to better understand the pathogenesis of this syndrome and to evaluate the effectiveness of corticosteroids in reducing the period of urinary retention. Methods: We reported a new case of MRS in a male adolescent. We also reviewed the previously 28 reported cases of MRS, collected from inception up to September 2022. Results: MRS is characterized by aseptic meningitis and urinary retention. The mean length of the interval between the onset of the neurological signs and the urinary retention was 6.4 days. In most cases no pathogens were isolated in cerebrospinal fluid, except for 6 cases in which Herpesviruses were detected. The urodynamic study resulted in a detrusor underactivity, with a mean period for urination recovery of 4.5 weeks, regardless of therapies. Discussion: Neurophysiological studies and electromyographic examination are not pathological, distinguishing MRS from polyneuropathies. Although there are no encephalitic symptoms or signs, and the magnetic resonance is often normal, MRS may represent a mild form of acute disseminated encephalomyelitis, without radiological detectable medullary involvement, due to the prompt use of steroids. It is believed that MRS is a self-limited disease, and no evidence suggests the effectiveness of steroids, antibiotics, and antiviral treatment in its clinical course.

Background Infant leukemia is a rare form of acute leukemia diagnosed prior to 1 year of age with an extremely poor prognosis, due to its poor response to current therapies. It comprises about 4% of childhood acute lymphoblastic leukemia (ALL). Isolated initial cutaneous involvement in ALL is very uncommon, and even more in infant ALL. Case Presentation Here we present a case of 2-month-old infant, presenting only nodular skin infiltrates on the scalp with the diagnosis of infant acute lymphoblastic leukemia (ALL), characterized by the immunophenotype of the most immature B-cell precursors (pro-B ALL) and chromosomal translocation t (9;11), associated with the rearrangement of KMTLA2 and AF9 genes, that is a negative prognostic factor. She underwent hematopoietic stem cell transplantation (HSCT) and she is still in remission Conclusions This represents a peculiar case because isolated initial cutaneous involvement in ALL is rare. In fact, most reports of ALL leukemia cutis in literature are single cases. The novel treatment strategies, obtained from recent discoveries regarding the peculiar biology of these leukemias, are increasingly being incorporated into clinical trials and have the potential to improve the prognosis.

Drowning is the third leading cause of injury death in the pediatric population worldwide, with incidence peaking among those aged 1–4 years and again in adolescence.The purpose of this commentary is to review the basic pathophysiology of drowninginjury and factors that affect the outcome, such as submersion and hypothermia. We also discuss principles of prehospital and in-hospital management, comprising resuscitation and stabilization, administration of oxygen and intravenous liquids, and central reheating.Even though the mortality rate has decreased in recent years, further investments and safety measures are needed to prevent child drowning deaths.