Minimizing unnecessary brain magnetic resonance imaging in pediatric endocrinology: a retrospective cohort analysis.

Background: Brain magnetic resonance imaging (MRI) is mandatory or highly recommended in many pediatric endocrinological conditions to detect causative anatomic anomalies and rule out neoplastic lesions. However, MRI can also show findings associated with the underlying clinical condition, as well as unrelated "incidentalomas". These latter findings are often abnormalities with a high incidence in the general population for which there is no clear literature regarding their management, especially in pediatric patients.

Pediatric schwannoma of the hypoglossal nerve: a case report and narrative literature overview.

Schwannomas are benign, slow-growing tumors originating from the Schwann cells of nerve sheaths. Extracranial schwannomas are rare, particularly in pediatric populations. Here, we report the case of a hypoglossal schwannoma in a 15-year-old male who experienced tongue paresthesia and fasciculations and difficulty swallowing two years before hospital admission.

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA.

A 16-year-old boy was evaluated for a history of exercise-induced fatigability associated with nausea even after minimal effort, lower limbs muscle hypotrophy, and swelling of the masseter muscles after chewing. Laboratory tests were remarkable for hyperlactatemia and metabolic acidosis after short physical activity. The muscle biopsy showed non-specific mitochondrial alterations and an increase in intrafibral lipids.

Neck stiffness and bone osteolytic lesion in a 3-years old child: a case report.

Background: Neuroblastoma is the most frequent extracranial solid tumor occurring in childhood, representing approximately 28% of all cancers diagnosed in infants. Signs and symptoms of neuroblastoma vary with the site of development of the tumor and can mimic other diseases due to its extreme clinical variability. However, torticollis is not reported in the medical literature as a leading symptom of neuroblastoma.

Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

Objective: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine.

Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance.

Introduction: The objective of this study was to describe a cohort of fetuses with an ultrasound prenatal diagnosis of obliterated cavum septi pellucidi (oCSP) with the aim to explore the rate of associated malformations, the progression during pregnancy and the role of fetal magnetic resonance imaging (MRI).

Material And Methods: This was a retrospective multicenter international study of fetuses diagnosed with oCSP in the second trimester with available fetal MRI and subsequent ultrasound and/or fetal MRI follow-up in the third trimester. Where available, postnatal data were collected to obtain information on neurodevelopment.

Asymptomatic sacroiliitis detected by magnetic resonance enterography in patients with Crohn's disease: prevalence, association with clinical data, and reliability among radiologists in a multicenter study of adult and pediatric population.

Objectives: Patients with Crohn's disease (CD) usually undergo magnetic resonance enterography (MRE) for evaluating small bowel involvement. Musculoskeletal symptoms are the most frequent extraintestinal manifestation in inflammatory bowel diseases, especially in CD, with sacroiliitis at imaging occurring in about 6-46% of patients and possibly correlating with axial spondyloarthritis. The primary study aim was to assess the prevalence of sacroiliitis in adult and pediatric patients with CD performing an MRE.

Dealing With Brain MRI Findings in Pediatric Patients With Endocrinological Conditions: Less Is More?

Neuroimaging is a key tool in the diagnostic process of various clinical conditions, especially in pediatric endocrinology. Thanks to continuous and remarkable technological developments, magnetic resonance imaging can precisely characterize numerous structural brain anomalies, including the pituitary gland and hypothalamus. Sometimes the use of radiological exams might become excessive and even disproportionate to the patients' medical needs, especially regarding the incidental findings, the so-called "incidentalomas".

Severe onset of inflammatory myositis in a child: think to paraneoplastic myositis.

Background: Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child.

Unilateral leg swelling in a newborn.

A female neonate was born with asymmetric lower limbs, the right leg appearing enlarged, with thickened, reddish-purple skin and ectasic superficial reticulum (figure 1A,B). Limb pulses were present and symmetrical. The girl's family history and prenatal scans were unremarkable.

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of and genes, (3) the evaluation and deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3.

Myositis ossificans mimicking sarcoma: a not so rare bioptic diagnostic pitfall.

Background: Myositis ossificans (MO) is a heterotopic bone formation in soft tissues, usually caused by traumas or neuropathies. Although the aetiology remains unclear, MO is supposed to be an osteoblast metaplasia with a benign and self-limiting course. Remarkably, at onset MO can be clinically, radiologically and histologically indistinguishable to soft tissue malignancies, especially in cases lacking a history of trauma, leading to misdiagnoses and improper treatments.

Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects.

Background: Plexiform neurofibromas (PN) are congenital tumors that affect up to 50% of individuals with neurofibromatosis type 1. Despite their benign nature, they can grow rapidly and cause severe morbidities. Selumetinib, an inhibitor of mitogen-activated protein kinase (MEK) 1 and 2, was reported to induce a clinical response in pediatric subjects with inoperable PN.

A strident girl.

A 12-year-old girl was referred with a 7-month history of episodes of dyspnoea, stridor and a sense of chest constriction during physical exercise. These were self-limiting and never occurred at night. Physical examination was normal.

A toddler with a persisting limp after a minor trauma.

A 3-year-old toddler was admitted for a 5-day history of worsening painful limping on his left leg. History was remarkable only for a minor trauma 2 days before the onset of symptoms; the boy fell on his buttocks but was walking normally in the following days. No fever was reported.

Intranasal dexmedetomidine and intravenous ketamine for procedural sedation in a child with alpha-mannosidosis: a magic bullet?

Background: Procedural sedation is increasingly needed in pediatrics. Although different drugs or drugs association are available, which is the safest and most efficient has yet to be defined, especially in syndromic children with increased sedation-related risk factors.

Case Report: we report the case of a five-year-old child affected by alpha-mannosidosis who required procedural sedation for an MRI scan and a lumbar puncture.