Giovanni Cacciaguerra

Background: Vitamin D deficiency is common in Duchenne muscular dystrophy (DMD) and contributes to impaired skeletal health. Evidence describing early real-world responses to supplementation during the ambulatory phase remains limited. Methods: Prospective case series including five ambulatory boys with genetically confirmed DMD receiving individualized oral cholecalciferol (vitamin D ₃ ) for 6 months. Results: Serum 25(OH)D increased in four of five patients, bone mineral density Z-scores improved descriptively in all patients, no new fractures occurred, and treatment was well tolerated. Conclusions: Individualized correction of vitamin D deficiency appears feasible and safe in ambulatory children with DMD. These findings support routine screening and individualized correction of vitamin D deficiency as part of multidisciplinary care in ambulatory children with DMD, while highlighting the need for larger controlled studies evaluating long-term skeletal outcomes.

Cystic echinococcosis (CE), caused by Echinococcus granulosus sensu lato, most commonly involves the liver and lungs, whereas the spleen is an uncommon site, accounting for less than 2% of cases; isolated primary splenic involvement is rarer still and is only sporadically reported in children. Total splenectomy has traditionally been the standard treatment for splenic CE, yet it carries a lifelong risk of overwhelming post-splenectomy infection, a particularly relevant concern in a child. We describe a 13-year-old boy from a rural, sheep-rearing area of eastern Sicily in whom a splenic cyst was incidentally detected on ultrasonography performed after minor blunt abdominal trauma. Ultrasound and contrast-enhanced computed tomography showed a 3.7 cm cyst with a partly calcified wall and a thin enhancing rim compatible with a pericyst, reported as stage CE3a (WHO-IWGE), and Echinococcus IgG serology was positive. In the absence of histological confirmation, a presumptive diagnosis of splenic CE was made after considering the relevant differential diagnoses. Given the small, uncomplicated cyst and the wish to preserve splenic function, the patient was managed with continuous albendazole monotherapy (400 mg twice daily) for six months, without any invasive procedure. Treatment was well tolerated, and serial imaging showed a modest reduction in size together with evolution of the cyst content toward a solid, calcified, inactive-appearing pattern that remained stable for six months after treatment discontinuation. This case suggests that, in exceptionally selected patients, albendazole monotherapy with close imaging surveillance may allow spleen preservation; it should not be regarded as a standard alternative to surgery.

Background: Moyamoya disease (MMD) refers to an isolated, usually bilateral vasculopathy of undetermined origin characterized by a chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Moyamoya syndrome (MMS) refers to the same Moyamoya angiographic findings when the anomaly is found in association to various inherited or acquired conditions. We report herewith the clinical and neuroradiological evaluation conducted on six children presenting with MMD and MMS together with a wide revision of the literature. Method: The medical records of patients with age < 18 years, admitted to the Pediatric Clinic of Catania University and the Pediatric Unit of the Cannizzaro Hospital Catania, Italy between 2006 and 2023 were analyzed. The children here reported were selected according to the results of neuroradiological investigations related to the Magnetic Resonance Imaging (MRI) diagnostic criteria for MMD 2021 Revised Version. Results: Six children with MMD were selected for this study: four children with genetic disorders including Neurofibromatosis type 1, Down syndrome, Marfan syndrome, partial chromosomal duplications: two observed during neuroradiological investigations for mycoplasma meningoencephalitis and for traumatic brain injury. Sex, age at diagnosis, type of vascular complications, presenting symptoms and signs, treatment, and short time clinical and neurological follow-up was reported. Conclusions: This study shows that MMD is a disorder presenting with a wide, heterogeneous clinical expression frequently associated with underlying congenital and acquired manifestations.

Coronavirus disease 2019 (COVID‑19) caused by the highly infectious severe acute respiratory syndrome coronavirus‑2 (SARS‑CoV‑2) is a relatively recent emerging public welfare issue due to the rapid pandemic diffusion of the infection and to the new data acquisitions on the acute and chronic consequences related to the disorder. The first clinical manifestations identified were the involvement of the respiratory tract, with mild fever, rhinorrhea, cough and shortness of breath; these are the most frequently reported symptoms. Adults who are older, of the male sex, have cardiovascular issues, are obese, and have high blood pressure or diabetes are more likely to have a poor outcome following infection. This is true for both healthy children and adults who are otherwise healthy. In individuals with COVID‑19, neurological involvement varies, presenting with mild, or severe clinical complications; seizures are known to be the most common neurological manifestation. Neurological manifestations in childhood are less common and usually less severe than those observed in adults and may present with variable features involving the central, as well as the peripheral nervous system. The present literature review discusses the link between COVID‑19 infection and infection‑related seizures in children, as well as the effects of COVID‑19 infection in children affected by epilepsy. Seizures in COVID‑19 may raise from direct infectious, inflammatory or vascular causal effects on central nervous system structures. Indirect effects due to previous systemic disruptions or complications provoked by COVID‑19 infection are other suggestive causes. The effects of COVID‑19 infection on children affected by epilepsy and COVID‑19 as possible causal ground for subsequent epilepsy are also discussed herein. The vaccination, early diagnosis and the correct treatment of children affected by COVID‑19 are relevant factors for preventing the more aggressive course of the disorder and for preventing cerebral involvement, which may be the cause of subsequent severe clinical complications.

The COVID-19 pandemic has revealed a diverse spectrum of clinical manifestations in the pediatric population, including the rare but notable presentation of unilateral parotitis. This comprehensive review explores the complexities surrounding SARS-CoV-2-associated unilateral parotitis in children. It addresses the initial clinical presentation, diagnostic challenges, treatment strategies, and the wider epidemiological impacts of this unusual symptom. The review synthesizes the available literature, providing insights into the pathophysiological mechanisms underlying this atypical manifestation and its implications for pediatric healthcare during the pandemic. Through the rigorous analysis of reported cases, this study underscores the need for increased awareness and a broad differential diagnosis among clinicians. It also emphasizes the importance of continued research to delineate the full clinical spectrum of COVID-19 in children.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection usually affects the respiratory system; however, a number of atypical manifestations of this disease have also been reported, especially in children. The present study reports a case of a 12-year-old presenting with right unilateral parotitis and sialadenitis and SARS-CoV-2 infection. The young patient, after a 3-day history of fever, was brought to our clinic (Polyclinic University Hospital ‘G. Rodolico’, Catania, Italy) for the sudden onset of unilateral parotitis accompanied by sialadenitis and hyperaemia of the skin, which was tender to touch. The SARS-CoV-2 molecular swab was positive; the ultrasound of the affected region showed an increase in the volume of the parotid and sublingual gland and reactive lymph nodes compatible with parotitis and sialadenitis. This case suggests that, in the present Coronavirus disease 2019 pandemic, SARS-CoV-2 should be included in the differential diagnosis of parotitis and sialadenitis along with mumps and flue. Notably, a respiratory panel and serology for other potential causes are needed in case of parotitis-like disease.

Coronavirus disease 2019 (COVID-19) has been chiefly linked with substantial respiratory complications. However, emerging studies have brought attention to the occurrence of severe muscle inflammation (myositis) related to COVID-19, potentially leading to multi-organ failure and increased mortality. Myositis is generally characterized by heightened serum creatine kinase (CK) levels. Acute myositis is characterized by an infiltration of viruses into calf muscle fibers, which may cause a subsequent inflammatory response leading to calf muscle pain. Symptomatic and supportive management, along with explanation and reassurance, is all that is required in managing this condition. While the association between myositis and severe outcomes has been recognized in adults, it remains less understood in the pediatric population. The current retrospective study, conducted at Policlinico San Marco University Hospital in Catania, aimed to analyze clinical and laboratory factors associated with myositis in pediatric patients with SARS-CoV-2 infection. Between January 2022 and January 2023, ten pediatric patients diagnosed with myositis and SARS-CoV-2 infection were evaluated. The study highlighted clinical manifestations such as fever, calf muscle pain, and abnormal gait. Lab results showed elevated CK levels among other findings. All patients underwent treatment, with the majority recovering without complications. A notable correlation was observed between CK levels, blood urea nitrogen (BUN), and the urea/creatinine ratio (UCR). The study also discusses potential pathophysiological mechanisms behind SARS-CoV-2’s impact on skeletal muscles, emphasizing an indirect inflammatory response. Our findings underscore that while myositis in children with SARS-CoV-2 infection appears to follow a benign and self-limiting trajectory, it is crucial to monitor specific markers for early intervention and management. Further research is warranted to elucidate the underlying mechanisms and improve clinical outcomes.

Mumps is an acute generalized infection caused by a Paramyxovirus. Infection occurs mainly in school-aged children and adolescents and the most prominent clinical manifestation is nonsuppurative swelling and tenderness of the salivary glands, unilaterally or bilaterally. Negative serology for mumps requires a differential diagnosis with other infectious agents, but it is not routine. An 11-year-old girl presented with fever and right-sided parotitis and a negative serology for Mumps. A respiratory panel revealed the presence of Coronavirus OC43 and influenza virus H3N2. Parotitis may be caused by the parainfluenza virus, Epstein–Barr virus, influenza virus, rhinovirus, adenovirus, or other viruses in addition to noninfectious causes such as drugs, immunologic diseases, or obstruction of the salivary tract as predisposing factors. In this case, Coronavirus OC43 and influenza virus H3N2 were detected. The H3N2 has been already reported in the literature, whereas Coronavirus OC43 has never been associated with parotitis before; although, in the present case, the association of the two viruses does not let us conclude which of the two was responsible for the disease.

Klippel–Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel–Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.

Craniosynostosis, the premature closure of cranial sutures, is one of the principal causes of pediatric skull deformities. It can cause aesthetic, neurological, acoustic, ophthalmological complications up to real emergencies. Craniosynostosis are primarily diagnosed with accurate physical examination, skull measurement and observation of the deformity, but the radiological support currently plays an increasingly important role in confirming a more precise diagnosis and better planning for therapeutic interventions. The clinician must know how to diagnose in the earliest and least invasive way for the child. In the past, technological limitations reduced the choices; today, however, there are plenty of choices and it is necessary to use the various types of available imaging correctly. In the future, imaging techniques will probably rewrite the common classifications we use today. We provide an updated review of the role of imaging in this condition, through the ages, to outline the correct choice for the clinician for an early and non-invasive diagnosis.