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. Magnetic resonance imaging showed an oval mass with sharp and regular limits of approximately 45 × 29 × 25 mm in the cranial portion of the right carotid adipose space, caudal to the right carotid and lateral foramen. The patient underwent surgery, and a histological examination confirmed a schwannoma of the hypoglossal nerve. Six months after surgery, the patient was symptom-free. The literature on schwannomas of the hypoglossal nerve is scarce, with only a few previously reported cases in the adult population. Despite their rarity, schwannomas should be considered in the differential diagnosis of masses located in the neck that present with lingual and occasionally auditory symptoms, even in pediatric patients. Surgical resection is recommended and has a low risk of long-term recurrence.
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". This unclarity is due to the absence of well-defined pediatric guidelines for managing and following these radiological findings. We review and summarize some indications on how to, and even if to, monitor these anomalies over time to avoid unnecessary, expensive, and time-consuming investigations and to encourage a more appropriate follow-up of brain MRI anomalies in the pediatric population with endocrinological conditions.
Abstract
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.
Case presentation
Here we report the case of a 3 years-old girl with fever and neck stiffness. Blood tests revealed a mild anemia and a rise in inflammatory markers. CT-scan showed a solid, heterogeneous, predominantly hypodense surrenal mass with eccentric calcification and extensive inhomogeneity of the vertebral metamers. Blood tests revealed raised serum levels of Neuron-Specific Enolase. At the 24-hours urine collection urinary catecholamines were greatly increased. A course of chemotherapy for neuroblastoma was promptly started with immediate clinical improvement.
Conclusions
This case shows that the presence of torticollis could be a chief complaint of neuroblastoma. To our knowledge, neuroblastoma is not mentioned among life-threatening underlying conditions of torticollis in most recent literature reviews.
Abstract
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.
Case presentation
A 13-year-old male was referred to the Oncology Department because of a previous diagnosis of osteogenic sarcoma of his left thigh. The diagnosis was made upon a history of isolated thigh pain in the absence of traumas, the evidence of a contrast-enhanced soft tissue mass on magnetic resonance imaging and the histological findings of atypical nuclei and mitotic figures. The lesion was eventually radiologically unchanged after five cycles of chemotherapy; thus, the child was referred for radical surgery. At admission, endorsing the child well-appearance, together with the evidence of a reduced calcified lesion on a further magnetic resonance, a clinical suspicion of myositis ossificans was raised. Hence, the excisional biopsy confirmed the pathognomonic zonal pattern of myositis ossificans.
Conclusions
This case highlights some frequent diagnostic pitfalls facing myositis ossificans. A lacking history of traumas, along with a too early radiological and histological evaluation can lead to a misdiagnosis of soft tissue malignancies. Even in the absence of a clear history of trauma, a painful soft tissue swelling with a benign clinical course should raise the suspicion of myositis ossificans.
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 GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be efficient in identifying the molecular cause of HL, providing essential information for the patients’ future management.
Abstract
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.
Case presentation
An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO
2
88%, pCO
2
68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed.
Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m
2
, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after.
Conclusions
Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.
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.
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. We administered intranasal dexmedetomidine (4 μg/kg) 45 min before intravenous cannulation, followed by one bolus of ketamine (1 mg/kg) for each procedure. The patient maintained spontaneous breathing and no desaturation or any complication occurred.
intranasal dexmedetomidine and intravenous ketamine could be a feasible option for MRI and lumbar puncture in children with alpha-mannosidosis needing sedation.
Correspondence to Dr Irene Del Rizzo; idr8991@gmail.com A 15-day-old full-term newborn was admitted to the emergency department for right scrotal swelling, irritability and poor feeding that started ...12 hours earlier, without fever or vomiting. Newborns have a 3%–16% risk of incarceration, which rises up to 31% in preterm infants.1 Amyand hernia with appendicitis is a sporadic event (0.1%), and it is possibly due to the incarceration of the appendix into the herniary sac.2–4 Although rare, it should be considered in newborns with incarcerated hernia since early perforation and peritonitis are quite frequent in neonatal appendicitis. ...a delayed diagnosis can be life threatening.5 The authors would like to thank Martina Bradaschia, MD, for the English revision of the manuscript. Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.
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