Background: To measure patient flow at our Pediatric Emergency Department (PED) during the Italian lockdown, with particular care in terms of otolaryngological (ENT)-related diagnoses. Methods: A retrospective evaluation of electronic charts of children admitted to our PED in the City Center of Milan (Italy) for any disease. The outcome was to compare distribution of diagnoses performed at our PED during 21 February–3 May 2019 (period 1) to 21 February–3 May 2020 (period 2). Results: A total of 4538 children were evaluated during period 1 compared to 1310 during period 2. A statistically significant overall effect on diagnosis between the study periods was attested (p-value < 0.001; pseudoR2 = 0.010), ENT-related diagnoses being more frequently documented in period 1 (80.4% vs. 19.5%; p-value < 0.001), as well as those related to middle ear infections (92.8% vs. 7.2%; p-value < 0.001). Non-complicated acute otitis media more frequently occurred in period 1 (92.0% vs. 8.0%; p-value < 0.001); no significant difference in the number of complicated middle ear infections occurred (95.8% vs. 4.2%). Conclusions: The exceptional circumstances of the Italian lockdown resulted in a significant decrease in patients’ attendance to our PED, especially when considering diagnoses related to any ENT disorder, middle ear disease, and non-complicated middle ear infection.
Background: Cerebral venous sinus thrombosis in children is a rare but potentially fatal complication of acute mastoiditis, one of the most common pediatric infectious diseases. Due to its subtle clinical presentation, suspicion is essential for a prompt diagnosis and appropriate management. Unfortunately, no standard treatment options are available. To discuss the possible clinical presentation, microbiology, and management, we here report the case of a child with otogenic cerebral venous sinus thrombosis and perform a literature review starting from 2011. Case presentation: The child, a 10-months-old male, presented clinical signs of right acute otitis media and mastoiditis. Brain computed tomography scan detected right sigmoid and transverse sinus thrombosis, as well as a subperiosteal abscess. Fusobacterium necrophorum and Haemophilus Influentiae were detected on cultural sampling. A multidisciplinary approach along with a combination of medical and surgical therapy allowed the patient's full recovery. Conclusion: Cerebral venous sinus thrombosis is a rare but severe complication of acute otitis media and mastoiditis. The management of this pathological condition is always challenging and an interdisciplinary approach is frequently required. Current therapeutic options include a combination of medical and surgical therapy. A patient-centered approach should guide timing and treatment management.
Usually overlooked by physicians, olfactory abnormalities are not uncommon. Olfactory malformations have recently been reported in an emerging group of genetic disorders called Mendelian Disorders of the Epigenetic Machinery (MDEM). This study aims to determine the prevalence of olfactory malformations in a heterogeneous group of subjects with MDEM. We reviewed the clinical data of 35 patients, 20 females and 15 males, with a mean age of 9.52 years (SD 4.99). All patients had a MDEM and an already available high-resolution brain MRI scan. Two experienced neuroradiologists reviewed the MR images, noting abnormalities and classifying olfactory malformations. Main findings included Corpus Callosum, Cerebellar vermis, and olfactory defects. The latter were found in 11/35 cases (31.4%), of which 7/11 had Rubinstein-Taybi syndrome (RSTS), 2/11 had CHARGE syndrome, 1/11 had Kleefstra syndrome (KLFS), and 1/11 had Weaver syndrome (WVS). The irregularities mainly concerned the olfactory bulbs and were bilateral in 9/11 patients. With over 30% of our sample having an olfactory malformation, this study reveals a possible new diagnostic marker for MDEM and links the epigenetic machinery to the development of the olfactory bulbs.
Ludington and colleagues recently published an article in the American Journal of Medical Genetics Part A reporting a possible new microdeletion disorder involving the Contactin-Associated Protein 5 gene (CNTNAP5, OMIM *610519) (Ludington, Yu, Bae, & Barnett, 2020). The authors described a 9-year-old patient presenting with microcephaly, thin corpus callosum, and cognitive impairment. Array CGH identified a de novo 838 kb deletion at 2q14.3 involving CNTNAP5, which was deemed to be the cause of the child's phenotype. To date, this is the only reported case of a deletion solely involving CNTNAP5. Currently, five CNTNAP genes have been described, each encoding a Contactin-Associated Protein, a multidomain transmembrane structure predominantly found in the central and peripheral nervous sys
Septic arthritis is an inflammatory process usually generated by a bacterial infection. The knee is one of the most frequently involved joints. The etiology varies depending on age, and hematogenous spread remains the primary cause in children. Herein, we report a case of a previously healthy three-year-old female who was referred to our institution for acute swelling of her right knee. After a clinical and radiological diagnosis of septic arthritis, an empirical treatment with a combination of cefotaxime and clindamycin was initiated. The isolation of a multi-sensitive Streptococcus pyogenes strain from the joint’s effusion prompted the discontinuation of clindamycin and the usage of cefotaxime alone. One week later, an ultrasound was executed due to worsening in the patient’s clinical conditions, and an organized corpuscular intra-articular effusion with diffuse synovial thickening was revealed. Cefotaxime was therefore replaced with clindamycin, which improved the symptoms. Despite the antibiotic sensitivity test having revealed a microorganism with sensitivity to both cephalosporin and clindamycin, clinical resistance to cefotaxime was encountered and a shift in the antimicrobial treatment was necessary to ensure a full recovery. This case study confirms that an antibiotic regimen based solely on a susceptibility test may be ineffective for such cases.
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