Rare Pediatric Case Research Articles

Diagnostic Difficulties of Erosive Lichen Planus in a Pediatric Patient

Background: Lichen planus (LP) is a chronic inflammatory disease that can present with significant morbidity, particularly in children. Erosive lichen planus (ELP), its rare destructive subtype, can be particularly difficult to diagnose and manage. We present a rare pediatric case of ELP with multisite involvement and discuss the differential diagnosis. Case Presentation: A 12-year-old boy presented with painful erosions and ulcers on the lateral tongue and dystrophic nails. His six-year history of tongue and nail lesions prompted several comprehensive examinations. Laboratory tests did not reveal any abnormalities. Histopathological examination of the tongue lesions was representative of ELP. Line-field confocal optical coherence tomography (LC-OCT) examination of the tongue lesions showed features that strongly correlated with histopathology. The patient was later hospitalized due to dysphagia and esophageal food impaction, during which esophageal ELP was confirmed. The patient was initially managed with topical corticosteroids. He was later started on systemic therapy in the form of methotrexate and low-dose naltrexone to address his symptoms and disease presentation. Conclusions: This case highlights the complexities of diagnosis and management of ELP in pediatric patients. A multidisciplinary approach and regular follow-up are necessary to manage symptoms, prevent complications, and improve quality of life.

Sporadic Burkitt Lymphoma First Presenting as Painful Gingival Swellings and Tooth Hypermobility: A Life-Saving Referral

Background: Burkitt lymphoma (BL) is an aggressive non-Hodgkin lymphoma (NHL), subdivided into endemic, sporadic, and immunodeficiency-associated forms. While jaw lesions are common in endemic BL, they are infrequent in sporadic cases, only rarely constituting the first manifestation of the disease. The aim of this study is to present a rare pediatric case of sporadic BL first manifesting as gingival swellings and tooth hypermobility and provide a review of all the published sporadic BL case reports as the first sign of disease. Case report: An 11-year-old Caucasian female was referred for the evaluation of hypermobility of posterior lower teeth, associated with painful gingival swellings of 20 days duration. Clinical examination revealed right facial asymmetry and bilateral prominent swellings of the posterior lower gingiva. A panoramic radiograph revealed ill-defined radiolucent lesions in the posterior mandible bilaterally. On computed tomography, soft-tissue masses were identified along the mandibular ramus extending into the maxillary sinus bilaterally. The histopathologic and immunohistochemical analyses of the lesions led to a diagnosis of Burkitt lymphoma (BL). The patient underwent a full staging work-up, revealing bone marrow involvement and widespread disease. A multi-chemotherapy regimen was initiated with the regression of oral lesions and symptoms within a few weeks and complete disease remission after nine chemotherapy cycles. The patient remains free of disease 11 years later. Conclusions: This case underscores the critical importance of the timely diagnosis and life-saving referral of rapidly growing jaw lesions, which may represent the first sign of an underlying lymphoreticular malignancy with aggressive course, such as BL.

A Rare Pediatric Case of COVID-19-Associated Guillain-Barré Syndrome With Multiple Cranial Neuropathies and Without Pulmonary Symptoms

A Rare Pediatric Case of COVID-19-Associated Guillain-Barré Syndrome With Multiple Cranial Neuropathies and Without Pulmonary Symptoms

Mitophagosomes induced during EV-D68 infection promote viral nonlytic release.

Enterovirus-D68 (EV-D68) is a plus-strand RNA virus that primarily causes infant respiratory infections. In rare pediatric cases, infection with EV-D68 has been associated with acute flaccid myelitis, a polio-like paralytic disease. We have previously demonstrated that EV-D68 induces nonselective autophagy for its benefit. Here, we demonstrate that EV-D68 induces mitophagy, the specific autophagic degradation of mitochondria. EV-D68 infection induces mitophagosome formation and several hallmarks of mitophagy, including mitochondrial fragmentation, mitochondrial membrane potential loss, and Parkin translocation to the mitochondria were observed in EV-D68 infected cells. The 3C protease of EV-D68 cleaves the mitochondrial fusion protein, mitofusin-2, near the C-terminal HR2 domain to induce mitochondrial fragmentation, and these fragmented mitochondria colocalized with double-stranded RNA (dsRNA), which labels viral RNA replication sites after peak viral RNA replication. Depleting components of mitophagy signaling specifically reduced EV-D68 release without impacting viral intracellular titers. Our results suggest that whereas the machinery of macroautophagy supports various stages of enterovirus replication, including viral genomic RNA replication and capsid maturation, mitophagy is the specific form of autophagy that regulates the nonlytic release of enteroviruses from cells.

The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.

Variants in the GNB1 gene, which encodes for the beta-1 subunit of G proteins, have been associated with intellectual development disorder (OMIM: 616973), characterized by developmental delay, infantile hypotonia, seizures, and psychiatric problems. GNB1 variants may also cause a multisystem disorder, with symptoms such as hearing and vision impairment, gastrointestinal disorders, genitourinary abnormalities, and growth delay. We present two pediatric patients with two novel GNB1 variants. The first patient is a 12-year old Caucasian European female with a history of neonatal hypotonia, feeding difficulties, and failure to thrive for the first 2 years of life. Subsequently, she developed grade 3 obesity, hyperphagia, and autoimmune thyroiditis. Whole Exome Sequencing (WES) revealed a novel likely pathogenic variant in the GNB1 gene (NM_002074.5:c.93_94del, p.Gln32AspfsTer46), which is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. The second patient is a 2-year old Roma female with severe failure to thrive during infancy, congenital hypothyroidism, and transient hyperoxaluria. No developmental delay was identified. Genetic testing excluded primary hyperoxaluria and WES revealed to be a novel likely pathogenic variant {NM_002074.5:c.183G > T (NP_002065.1:p.Met61Ile), which is predicted to have a damaging effect on the gene or gene product. We present two rare pediatric cases with novel GNB1 variants which highlight the phenotypic variability associated with disrupted GNB1 expression. GNB1 may serve as a candidate gene for severe early onset obesity, hyperphagia, neurodevelopmental delay, and other metabolic and endocrine disorders.

Utilizing metagenomic next-generation sequencing and phylogenetic analysis to identify a rare pediatric case of Naegleria fowleri infection presenting with fulminant myocarditis.

Naegleria fowleri (N. fowleri), a rare and typically lethal amoeba, most commonly causes primary amoebic meningoencephalitis (PAM). This case report describes an exceptionally rare presentation of fulminant myocarditis as the primary manifestation in a 6-year-old child, diverging from the typical neurological pathogenesis associated with N. fowleri infection. Beyond neurological afflictions, the child developed arrhythmias and cardiac failure, necessitating treatment with extracorporeal membrane oxygenation (ECMO). Diagnosis was confirmed via metagenomic next-generation sequencing (mNGS) of both blood and cerebrospinal fluid (CSF). This analysis not only substantiated the infection but also revealed a potential new genotype of N. fowleri, designated k39_3, suggesting broader genetic diversity than previously recognized. Immediate treatment with Amphotericin B (Am B) and rifampin was initiated upon diagnosis. Despite aggressive management and supportive care, the patient failed to maintain hemodynamic stability, continued to show a decrease in cardiac output, and exhibited relentless progression of central nervous system failure, culminating in death within 72 h. Our report documents a rare pediatric case of N. fowleri infection presenting with fulminant myocarditis, revealing an unexpected clinical manifestation and broadening the known spectrum of its effects. This emphasizes the need for enhanced surveillance and targeted research to understand the pathogenic mechanisms and improve treatment strategies.

8401 Genetic Characterization of a Case of Primary Aldosteronism in an 11-Year-Old Girl carrying a Germline VUS of CACNA1H and a Somatic Mutation of CTNNB1

Abstract Disclosure: S. Parisien-La Salle: None. G. Van Vliet: None. G. Corbeil: None. M. Labrecque: None. M. Tétreault: None. I. Bourdeau: None. Introduction: Primary aldosteronism is a frequent cause of secondary hypertension in adults but is rare in children. We report the case and genetic studies of an 11 yo girl presenting with primary aldosteronism at puberty. Case presentation: An 11-year-old female patient was referred to the pediatric endocrinology clinic for hypertension (166/118). Her past medical history and family history were unremarkable. She reported polyuria, polydipsia and occasional headaches and abdominal pain. Her Tanner stage indicated that puberty was initiated (P2M2). An abdominal CT revealed a 9x10x11cm right adrenal mass with calcifications and a necrotic zone. On [1]8F-FDG PET/CT, the mass had an uptake of 2.9 SUVmax. Laboratory results revealed hypokalemia (K: 2.6 mmol/L [N: 3.5-4.5]) and elevated aldosterone (1712.8 pmol/L [N: 110-1330]) with suppressed renin (0.2 ng/ml/h [N: <5.3]). Her urinary aldosterone level was elevated (114 nmol/day [N: <67]). The rest of the biochemical adrenal panel was normal. Patient underwent a right adrenalectomy by laparotomy. The pathology report showed an adrenal tumor without capsular or vascular invasion. The only malignancy criterion was an area of necrosis and the ki-67% proliferation index was < 1%. Genetic investigations: After informed consent, the patient underwent germline analysis for the chimeric gene CYP11B2/CYP11B1 (Ruhr University Bochum, Germany) and a multigene panel including KCNJ5, CACNA1D, CACNA1H and CLCN2 genes (Fulgent, CA), which were both negative except for a variant of unknown significance (VUS) that was identified in CACNA1H (c.3868G>A, p.Val1290Ile) with a minor allele frequency of 3.291E-5 (GnomAD). Tumor DNA was extracted after adrenalectomy from fresh frozen tissues. Somatic genetic analysis of GNAS, CTNNB1, KCNJ5, ATP1A1, ATP2B3 and CACNA1D was performed using direct Sanger Sequencing (Genome Quebec Innovation Centre) and revealed a heterozygous missence pathogenic variant in the CTNNB1 gene (c.121 A>G p.Thr41Ala). This mutation was absent in leukocyte DNA of the patient. Immunohistochemistry of the adrenal tumor disclosed strong cytoplasmic β-catenin staining in most tumor cells (monoclonal anti-β-catenin antibody; BD Transduction Laboratories). RNA-sequencing of patient tumor RNA was performed (Research Center CHU Québec) and compared to human adrenal total RNA (Clontech, Mountain View, CA). Pathway enrichment analysis showed activation of the Wnt signaling pathway. No variant was identified in GNAQ or GNA11 genes. However, GNRHR was upregulated compared to the control sample with a log2 fold change of 3.96 (p=0.000074). Conclusion: We present a rare pediatric case of an aldosterone producing adenoma harbouring a somatic β-catenin pathogenic variant with upregulation of GNRHR. The implication of the germline CACNA1H VUS still needs to be clarified. Presentation: 6/3/2024

A Rare Pediatric Case of Top of the Basilar Syndrome

A Rare Pediatric Case of Top of the Basilar Syndrome

Diagnostic Accuracy of a Custom Large Language Model on Rare Pediatric Disease Case Reports.

Accurately diagnosing rare pediatric diseases frequently represent a clinical challenge due to their complex and unusual clinical presentations. Here, we explore the capabilities of three large language models (LLMs), GPT-4, Gemini Pro, and a custom-built LLM (GPT-4 integrated with the Human Phenotype Ontology [GPT-4 HPO]), by evaluating their diagnostic performance on 61 rare pediatric disease case reports. The performance of the LLMs were assessed for accuracy in identifying specific diagnoses, listing the correct diagnosis among a differential list, and broad disease categories. In addition, GPT-4 HPO was tested on 100 general pediatrics case reports previously assessed on other LLMs to further validate its performance. The results indicated that GPT-4 was able to predict the correct diagnosis with a diagnostic accuracy of 13.1%, whereas both GPT-4 HPO and Gemini Pro had diagnostic accuracies of 8.2%. Further, GPT-4 HPO showed an improved performance compared with the other two LLMs in identifying the correct diagnosis among its differential list and the broad disease category. Although these findings underscore the potential of LLMs for diagnostic support, particularly when enhanced with domain-specific ontologies, they also stress the need for further improvement prior to integration into clinical practice.

Metachronous intracranial meningiomas without dural attachment in a child - Rare case report and review of literature.

Meningiomas in children are rare, constituting less than 5% of all paediatric brain tumours and less than 2% of all meningiomas. Multiple meningiomas (synchronous or metachronous) are even more uncommon, typically occurring due to radiation exposure or in patients with phacomatoses like Neurofibromatosis II. This report presents the case of a child with metachronous meningiomas without dural attachment in unusual locations, along with their management. This report aims to describe a rare paediatric case of metachronous meningiomas without dural attachment, detailing their presentation, treatment, and outcomes. A 2-year-old female presented with headaches, irritability, and excessive crying for one year. A CT scan revealed a mass in the fourth ventricle, causing obstruction, which was surgically decompressed. The biopsy confirmed a clear cell meningioma, WHO grade II. A follow-up MRI identified a new lesion in the suprasellar area six months later, for which she underwent right pterional craniotomy and gross total resection, which turned out to be a clear cell meningioma, WHO grade II. The patient recovered well and remained asymptomatic, with no recurrence on MRI at one-year follow-up. This case highlights the unusual presentation of metachronous clear cell meningiomas without dural attachment in a young child. Surgical excision resulted in a favourable outcome, though long-term follow-up is essential due to the high propensity for recurrence.

A Rare Pediatric Case of Allopurinol-Induced Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Successfully Treated With Intravenous Immunoglobulins

Allopurinol-induced drug reaction syndrome with eosinophilia and systemic symptoms (A-DRESS) is a well-described condition in adults, whereas it is uncommon among children. We describe a case of A-DRESS in a 16-year-old male with steroid-dependent nephrotic syndrome. He presented a life-threatening clinical course with persisting fever, skin rash, eosinophilia, lymphadenopathy, distributive shock, and herpesvirus 6 detection. The withdrawal of allopurinol and a combination of intravenous immunoglobulins (IVIGs) and systemic corticosteroids led to the patient’s recovery without sequelae. Drug reaction with eosinophilia and systemic symptoms (DRESS) in pediatrics is rare and can present in a severe form. Early diagnosis and timely treatment are critical for prognostic purposes. This report suggests the potentially crucial role of IVIG in the treatment of patients with A-DRESS.

Imaging blastic plasmacytoid dendritic cell neoplasm with 18FDG PET/CT: A rare paediatric case

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) previously called “CD4/CD56 hematodermic neoplasm” is a rare hematolymphoid neoplasm with a very poor prognosis. The disease has rarely been described in the paediatric population and is characterized by cutaneous involvement in most cases with hematological dissemination. Given the low number of cases described, the role of 18FDG PET/CT in this disease is very little known. We herein present a case of a 14-year-old girl with BPDCN to highlight the utility of 18FDG PET/CT for staging and treatment follow-up in this rare entity.

Case Report: Toxic epidermal necrolysis: a rare pediatric case report from Nepal

Toxic epidermal necrolysis (TEN) is a life-threatening cutaneous reaction to various medications like antibiotics and antiepileptics characterized by erythematous rashes, diffuse necrosis, and exfoliation of skin and mucous membranes, with a high mortality rate. Here, we present a case of six years old female child from Nepal who presented with fever and rashes, was diagnosed with measles and treated with cefixime, ibuprofen, and other drugs. Six hours after taking the drugs, the child developed generalized rashes, blisters formation, and peeling of the skin which progressed to cover most of the skin of her body within the next two days. She was then diagnosed with TEN and admitted to the Pediatric Intensive Care Unit (PICU) and treated by a multidisciplinary team with antibiotics, systemic steroids, antihistamines, wound care, and other medications. The child's fever subsided and her skin and oral lesions gradually regenerated. She was discharged after twelve days of hospitalization as she improved clinically and symptomatically. TEN is a dermatological emergency that should be diagnosed and treated promptly to minimize the fatal outcome of the disease.

Urbach-Wiethe disease: a rare pediatric case report

Urbach-Wiethe disease also known as lipoid proteinosis (LP) is a rare autosomal recessive Geno dermatosis.1 It is characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera and is also known as cutaneous-mucosal hyalinosis.2,3 Parental consanguinities is identified in approximately 20% of Urbach-Wiethe disease cases. The classic manifestation due to laryngeal infiltration is a hoarse cry with its onset in infancy. Skin and mucous membrane changes become clinically apparent important consequences.4 Rarely, the central nervous system and respiratory tract may be involved resulting in seizures and airway obstruction, respectively. The lifespan is generally normal. We report a case of Urbach-Wiethe disease in a 6-year-old boy with hoarseness of voice who was started on oral acitretin therapy following his diagnosis. Oral acitretin can prove useful in cases of lipoid proteinosis who present with hoarseness of voice or vocal cord palsy. The mutations in the gene encoding extracellular matrix protein 1 (ECM1) have been linked to lipoid proteinosis. Even though no effective treatment is known, acitretin has proved to reverse hoarseness of voice in few reported cases and was started in our case as it was his chief presenting complaint.

Fibrous Dysplasia of Maxilla in a 5-year-old Child: A Rare Pediatric Case Report and Literature Review

Fibrous dysplasia (FD) is a rare benign fibro-osseous, nonhereditary skeletal disorder that results from the postzygotic mutation in the GNAS1 gene (20q13.2). It manifests variable clinical manifestations, namely monostotic, polyostotic, and craniofacial forms/types and may also constitute few syndromes. Updated scientific literature with case report articles about FD is utmost important for the awareness of the medical and dental clinicians to identify accurately and also to make individualized treatment plans with multidisciplinary approach. Hence, this current article presents and illustrates the case report about monostotic FD of the maxilla in a 5-year-old boy. Furthermore, the case findings have been correlated with the updated relevant literature.

SETBP1 in Myeloid Malignancies—Putting Breadcrumbs Together in Rare, Uncommon, and Common Pediatric Cases

SETBP1 in Myeloid Malignancies—Putting Breadcrumbs Together in Rare, Uncommon, and Common Pediatric Cases

Unusual Combined Dental Attrition and Erosion of Primary Teeth with its Multiple Risk Factors: A Rare Pediatric Case Report with Literature Review

Tooth wear (erosion, attrition, or abrasion) has been reported with variable prevalence in children. These clinical entities present a wide range of dental problems and difficulty in dental management in growing children. If tooth wear and its causative/risk factors in primary dentition are not timely addressed, it may negatively affect the permanent teeth later. The current article presents the pediatric case report of successful and effective dental management of a 7-year-old healthy child having dental erosion and attrition with the past history of gastroesophageal reflux disease and Bruxism concurrently in addition to dietary factors (acidic fruits juices and soft-drink). This case presentation has been thoroughly described in a step-wise systematic manner to demonstrate the evidence-based clinical approach for managing such tooth wear problems (combined lesions of erosion and abrasion) in the young pediatric patient by preventive and conservative dental treatment modalities along with appropriate behavior management techniques. Moreover, a review of relevant dental literature about tooth wear and its different clinical aspects has been discussed in this article.

A rare pediatric case of proximal radius exostosis with radio-capitellar joint dislocation-marginal resection with joint reconstruction

We present a case of a patient with an incidental finding of an isolated radial head osteochondroma. This progressively enlarged to become symptomatic causing gradual subluxation of the radio-capitellar joint. Marginal excision and an annular ligament reconstruction was performed using a forearm fascia graft. The patient made a full recovery with symptom resolution and preservation of range of movement. He successfully returned to physical activity by the 3-month mark.

Keratocystic Odontogenic Tumor- A Rare Pediatric Case Report with an Impacted Premolar

Keratocystic Odontogenic Tumor which presently is also termed as Odontogenic keratocyst (OKC) this new title was given by WHO in 2005. It is a benign intraosseous cystic lesion of the gnathic bones which probably originates from the remnants of the dental lamina. We Present the case of a female child aged 12 years with aggressive KCOT and impacted maxillary second premolar.

Recurrence from the Spinal Region of the Patient Whose Treatment Was Completed with Liver and Lung Cystic Echinococcosis: A Rare Pediatric Case of Spinal Cystic Echinococcosis

Cystic echinococcosis is a parasitic disease caused by the Echinococcus tapeworm. The disease can often affect organs such as the liver and lungs, muscles, bones, kidneys, brain, and spleen. Spinal cystic echinococcosis has been reported very rarely in the literature. In this report; we present a pediatric case with spinal cystic echinococcosis, who was diagnosed with multiple cystic echinococcosis in the liver and lungs and was admitted with complaints of difficulty in walking and leg pain 1 year after the albendazole treatment, which he had been taking for 3.5 years. If a diagnosis of cystic echinococcosis was made in any organ, recurrences may occur in another organ at some time, even if the treatment is completed.Kistik ekinokokkoz, Echinococcus tenyasının neden olduğu paraziter bir hastalıktır. Hastalık sıklıkla karaciğer ve akciğer olmak üzere kaslar, kemik, böbrek, beyin, dalak gibi organları tutabilir. Spinal kistik ekinokokkoz hastalığı ise literatürde oldukça nadir bildirilmiştir. Bu raporda; karaciğer ve akciğerde multipl kistik ekinokokkoz tanısı ile 3,5 yıl aldığı albendazol tedavisi kesildikten bir yıl sonra yürümede zorlanma, bacak ağrısı şikayetiyle başvurması üzerine spinal kistik ekinokokkoz tanısı alan bir çocuk olgu sunulmuştur. Bu olguda da görüldüğü gibi, herhangi bir organda kistik ekinokokkoz tanısı konuldu ise tedavi tamamlansa da hayatın bir döneminde başka bir organda dahi nükslerin olabileceği unutulmamalıdır.