Rare pediatric cases: Diagnosis & management challenges

Ananya Desai

doi:10.35841/ bmcr-9.2.208

Short Communication - Biology & Medicine Case Reports (2025) Volume 9, Issue 2

Rare pediatric cases: Diagnosis & management challenges

Ananya Desai^*

Department of Pediatrics, Tata Memorial Hospital, Mumbai, India

*Corresponding Author:: Ananya Desai
Department of Pediatrics
Tata Memorial Hospital, Mumbai, India.
E-mail: ananya.desai@tmh.org.in

Received : 04-Apr-2025, Manuscript No. AABMCR-208; Editor assigned : 08-Apr-2025, PreQC No. AABMCR-208(PQ); Reviewed : 28-Apr-2025, QC No AABMCR-208; Revised : 07-May-2025, Manuscript No. AABMCR-208(R); Published : 16-May-2025 , DOI : 10.35841/ bmcr-9.2.208

Citation: Desai A. Rare pediatric cases: Diagnosis & management challenges. aabmcr. 2025;09(02):208.

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Introduction

The field of pediatric medicine continually faces diagnostic and therapeutic complexities, particularly with rare and unusual disease presentations. This collection of case reports sheds light on a diverse array of challenging conditions encountered in children, emphasizing the critical need for advanced diagnostic acumen, comprehensive multidisciplinary team approaches, and innovative treatment strategies. What this really means is, the unique physiological and developmental aspects of pediatric patients often lead to atypical manifestations of diseases, which demand careful consideration and tailored management plans. One striking instance involves an extremely rare occurrence of hypertrophic cardiomyopathy in a pediatric patient also diagnosed with congenital diaphragmatic hernia [1].

This case highlights the challenges inherent in diagnosing such complex presentations, underscoring the vital need for a comprehensive, multidisciplinary approach to management within pediatric cardiology. Getting to the root of these conditions requires expertise from various specialists working in concert. Let's break it down further; a unique pediatric case where refractory status epilepticus was directly linked to Anti-NMDA receptor encephalitis offers significant insights [2].

This particular report illuminates the diagnostic difficulties and the aggressive treatment strategies essential for managing such autoimmune neurological conditions in children, providing crucial insights into potential therapeutic pathways that could save lives. Another concerning scenario involves an exceptionally young pediatric patient presenting with gastric adenocarcinoma, a diagnosis typically observed in older populations [3].

This case emphatically points to the importance of considering rare malignancies even in young children, as well as the substantial challenges involved in early diagnosis and the subsequent planning of effective treatment. Complex autoimmune diseases are also a recurring theme. We see a pediatric patient suffering from systemic lupus erythematosus complicated by recurrent cerebral infarction, an uncommon presentation that demands careful neurological and rheumatological assessment [4].

This particular case highlights the intricate interplay of autoimmune diseases and their varied systemic manifestations in the pediatric population, making diagnosis a true puzzle. Then, there's the rare pediatric case of immune checkpoint inhibitor-associated myositis-myasthenia gravis overlap syndrome, which led to acute respiratory failure [5].

This article provides valuable insights into recognizing and managing severe immune-related adverse events in children undergoing cancer immunotherapy, which is becoming increasingly common. On the hematological front, a highly unusual presentation of pediatric acute monocytic leukemia concurrently with mixed-phenotype acute leukemia (T-lymphoid/myeloid) has been described [6].

This report underscores the diagnostic complexities associated with rare leukemia subtypes in children and the profound implications these findings have for developing tailored treatment strategies. Aggressive cancers also pose significant challenges. This article reports a rare case of pediatric neuroblastoma presenting with both orbital and intracranial metastasis, an uncommon initial spread pattern for this childhood cancer [7].

It emphasizes the importance of thorough staging and prompt diagnosis, given the often-aggressive nature of neuroblastoma, where time is truly of the essence. Not all challenges are internal. We see here a peculiar case of pediatric anaphylaxis triggered by sodium nitrite ingestion, highlighting an unexpected and potentially dangerous cause of severe allergic reactions in children [8].

This report brings attention to the need for continuous vigilance regarding unusual toxic ingestions that might otherwise be overlooked. Cerebrovascular interactions also play a role, as shown in a rare coexistence of pediatric moyamoya disease with pulmonary hypertension [9].

This case emphasizes the complex cerebrovascular and cardiopulmonary interactions that can occur in rare pediatric conditions, necessitating integrated diagnostic and management strategies that consider the whole child. Finally, here's a report on a unique pediatric case involving myocarditis that occurred simultaneously with systemic lupus erythematosus [10].

It illustrates the diagnostic challenge posed by overlapping autoimmune conditions and highlights the importance of considering multiple systemic involvements in children, ensuring that no stone is left unturned in their care. These cases collectively paint a picture of the multifaceted difficulties inherent in pediatric healthcare, from rare genetic disorders and aggressive malignancies to complex autoimmune conditions and unexpected environmental triggers. The overarching message is clear: successful outcomes for these young patients hinge upon vigilant clinical observation, sophisticated diagnostic tools, and collaborative, patient-centered care models.

Conclusion

Cases discussed cover a range of rare pediatric conditions, highlighting diagnostic and management challenges. These include complex cardiac issues like hypertrophic cardiomyopathy with congenital diaphragmatic hernia [1], severe neurological conditions such as refractory status epilepticus from Anti-NMDA receptor encephalitis [2], and unusual malignancies like gastric adenocarcinoma in a young child [3]. Autoimmune disorders present uniquely in children, exemplified by systemic lupus erythematosus (SLE) complicated by recurrent cerebral infarction [4], and SLE with concomitant myocarditis [10]. Immunotherapy side effects are also a concern, as seen with immune checkpoint inhibitor-associated myositis-myasthenia gravis overlap syndrome leading to acute respiratory failure [5]. Leukemia cases reveal diagnostic complexities, including acute monocytic leukemia with concurrent mixed-phenotype acute leukemia [6], while neuroblastoma can present with aggressive orbital and intracranial metastasis [7]. Unexpected allergic reactions like anaphylaxis from sodium nitrite ingestion underscore the need for vigilance against unusual toxic exposures [8]. Finally, rare cerebrovascular conditions like moyamoya disease coexisting with pulmonary hypertension illustrate the intricate systemic interactions in pediatric patients [9]. Collectively, these reports emphasize the critical need for comprehensive, multidisciplinary approaches to diagnose and manage uncommon and complex pediatric diseases, highlighting the importance of considering rare presentations, ensuring thorough staging, and developing tailored treatment strategies. These cases also bring to light the ongoing challenges in early diagnosis and the aggressive treatment needs for such conditions, pushing the boundaries of pediatric medicine.