Case Reports in Pediatrics最新文献

Red ear syndrome (RES) is a rare clinical entity presenting with paroxysmal erythema of one or both ears associated with a burning sensation or earache. The onset of symptoms could be either spontaneous or triggered by touch, stress, coughing, sneezing, neck movements, chewing, and combing hair. While most cases are usually described in adults, it can rarely present in children. This article reports a case of pediatric RES, first misdiagnosed as relapsing polychondritis. The patient's condition improved after introduction of ibuprofen, isoptin, and amitriptyline, with no new attacks reported after a 1 year follow up.

A 17-month-old child presented for an anesthesia consultation before planned plagiocephaly correction one week later. The medical history by the mother reported an episode of facial redness after administering atropine-based eye drops when the child was 9 months old. Based on this information, the anesthesiologist decided to postpone the surgery and conduct an allergy assessment. Skin tests performed by a pneumo-allergologist in a hospital setting were positive for atropine. Atropine, a frequently utilized drug in anesthesiology, is rarely associated with allergic reactions, particularly in pediatric patients, as evidenced by poor prior descriptions. This case report underscores the pivotal role of preoperative anesthesia consultations and the significance of attentively considering parental perspectives. Allergy testing can be fastidious in infants, and postponing surgery can be challenging, but in our case, it allowed for a safe procedure and no adverse reactions.

Pediatric palatal fractures are rare clinical presentations owing to the relative plasticity of their bones. We present a case of a 3-year-old pedestrian struck male patient presenting with a mid-sagittal palatal fracture which corresponds to a Hendrickson class II fracture. Diagnosis and treatment of these rare cases are very critical to ensuring proper manducatory functions and normal facial growth in these children.

Background: Breastfeeding is vital for infant nutrition, bonding, and overall health. However, challenges can arise with the presence of tethered oral tissues, commonly known as labial (lip) tie or lingual (tongue) tie, otherwise known as ankyloglossia. This case study explores the differential resolution of breastfeeding symptoms in a one-month-old infant with both labial and lingual ties. It outlines the diagnostic process, surgical interventions, and postoperative care, emphasizing the importance of detailed characterization of symptom resolution associated with a lingual and labial frenectomy. Case Presentation: The one-month-old male presented with 11 symptoms of feeding difficulties. Sequential surgical releases were performed for the labial and lingual ties, with a ranula also addressed. Detailed symptom assessments were conducted at one, two, and 4 weeks postsurgery, revealing differential responses to labial and lingual releases. Results: The results show that 81.8% of symptoms resolved after labial and lingual surgeries, with some symptoms responding specifically to either labial or lingual release. The study suggests that surgical intervention can significantly improve breastfeeding outcomes, including for patients who may not have access to sufficient lactation counseling resources. Conclusion: This single case study provides a valuable starting point for the exploration of which dysfunctional breastfeeding symptoms are associated with a labial tie versus lingual tie. Further research with larger samples is warranted to explore optimal treatment strategies for diverse parent-baby dyads experiencing breastfeeding difficulties, or whose access to lactation support services is limited.

TANGO2 deficiency disorder, a rare autosomal recessive genetic disorder characterised by biallelic loss-of-function variants in the TANGO2 gene, was first described in 2016. This disorder involves the transport and Golgi organisation homologue, impacting Golgi membrane redistribution into the endoplasmic reticulum. Clinically, affected individuals exhibit a multiorgan phenotype, with prominent neurological manifestations such as developmental delay and regression. Metabolic crises, triggered by minor infections or fasting, are a hallmark of the disorder. We present the case of a 5-year-old boy diagnosed with TANGO2 deficiency disorder who experienced a refractory-to-treatment ventricular arrhythmia storm. The patient's clinical course was marked by rhabdomyolysis-induced muscle pain, weakness and dark urine. Despite aggressive medical management during intercurrent illness, including hyperhydration, maintenance of normoglycemia and correction of electrolyte abnormalities, the patient's condition deteriorated, leading to a life-threatening ventricular arrhythmia storm. In a life-saving therapeutic approach, the patient underwent a thoracoscopic left sympathectomy during extracorporeal membrane oxygenation (ECMO) support. Remarkably, this intervention resulted in the termination of the ventricular arrhythmia storm. The case underscores the challenges in managing TANGO2 deficiency disorder-associated complications and highlights the potential role of innovative interventions, such as sympathectomy during ECMO, in critical and refractory cases. This case contributes to the understanding of the clinical spectrum of TANGO2 deficiency disorder and emphasises the need for further research into targeted therapies for this rare metabolic condition, where current treatment strategies focus on symptom management.

Cases of cervical foreign bodies are considered rare, and cases of needle that have migrated into the spinal canal are fairly uncommon. The most well-documented cases are those of acupuncture needles. We present a case of an incidental finding of an intravenous needle extending posteriorly between C7 and T1 interspinous space and ending at the level of C5-C6 interspace in a 2-year-old boy. We discuss the possible port of entry and the management of such findings.

Neurofibromatosis type 2 (NF2), also known as NF2-related schwannomatosis (SWN), is a rare dominantly inherited genetic disorder mainly characterized by the presence of vestibular schwannomas (VSs) in addition to a range of other tumors that affect both the central and peripheral nervous systems. These tumors include cranial, spinal, peripheral nerve, and intradermal schwannomas, cranial and spinal meningiomas, and intrinsic central nervous system (CNS) tumors, usually spinal ependymomas. Juvenile cataracts are also common in patients with NF2, with most symptoms at presentation being hearing loss and visual disturbances. We present the case of a previously healthy 12-year-old girl who presented with postprandial right upper quadrant pain and was found to have a large hydrops of the gallbladder on ultrasound scan of the abdomen. Pathology of the gallbladder post laparoscopic cholecystectomy showed diffuse involvement of the gallbladder by a benign nerve sheath tumor that was suggestive of schwannoma. Further testing confirmed the diagnosis of NF2. This case helps shed light on unusual NF2 symptoms and underscores the importance of recognizing atypical presentations for timely intervention and management. It also adds value to a multidisciplinary approach in diagnosing and managing NF2.

Hamman's syndrome, a rare complication of diabetic ketoacidosis (DKA), is characterized by subcutaneous emphysema and spontaneous pneumomediastinum. This case report discusses the occurrence of Hamman's syndrome in an 11-year-old adolescent male newly diagnosed with type 1 diabetes mellitus (T1DM) and presenting with severe DKA. The patient exhibited symptoms typical of DKA, including polydipsia, polyuria, abdominal pain, and fatigue, alongside signs such as dehydration, Kussmaul breathing, and tachycardia. Following initial management with intravenous fluids and insulin infusion, he was transferred to a tertiary children's hospital for further care. Subsequently, on routine examination, he exhibited bilateral neck crepitus and a mediastinal crunching sound on auscultation, indicative of Hamman's syndrome. Conservative management led to symptom resolution, and the patient was discharged with follow-up arranged. This case highlights the importance of recognizing Hamman's syndrome as a potential complication of DKA in pediatric patients. Prompt diagnosis and management, along with differentiation from more severe conditions like Boerhaave's syndrome, are crucial for ensuring favorable outcomes. Further awareness and understanding of this rare syndrome are essential for optimal patient care and management.

Background: In pediatric patients with severe COVID-19, if the respiratory support provided using high-flow nasal cannula (HFNC) becomes insufficient, no definitive evidence exists to support the escalation to noninvasive ventilation (NIV) or mechanical ventilation (MV). Case Presentation. A 9-year-old boy being treated with face mask-delivered biphasic positive airway pressure ventilation developed fever, tachypnea, and frequent desaturation. The COVID-19 polymerase chain reaction test and urine antigen test for Streptococcus pneumoniae were both positive, and sputum culture yielded Pseudomonas aeruginosa. The do-not-resuscitate order precluded the use of endotracheal intubation. After 2 h of HFNC support, the respiratory rate oxygenation (ROX) index declined from 7.86 to 3.71, indicating impending HFNC failure. A helmet was used to deliver NIV, and SpO₂ was maintained at >90%. Dyspnea and desaturation gradually improved, and the patient was switched to HFNC 6 days later and discharged 10 days later.

Conclusion: In some cases, acute respiratory distress syndrome severity cannot be measured using the oxygenation index or oxygenation saturation index, and the SpO₂/FiO₂ ratio and ROX index may serve as useful alternatives. Although NIV delivered through a facemask or HFNC is more popular than helmet-delivered NIV, in certain circumstances, it can help escalate respiratory support while providing adequate protection to healthcare professionals.

Background: Acute disseminated encephalomyelitis (ADEM) is a rare immune-mediated pathology involving inflammatory demyelination of the central nervous system. Case Presentation. In this case report, we present the case of a nine-year-old female who exhibited altered mental status and focal neurological deficit, subsequently diagnosed as ADEM based on clinical presentation and magnetic resonance imaging (MRI) findings. The patient was managed symptomatically along with glucocorticoids.

Conclusion: ADEM must be suspected when a patient, especially a child, presents with prodromal symptoms followed by multifocal neurological symptoms. Diagnosis can be established with an MRI brain scan. Most patients respond to high-dose intravenous glucocorticoids.