United States

Background

Burkitt lymphoma is a highly aggressive form of non-Hodgkin lymphoma, with an increased risk associated with Human Immunodeficiency Virus (HIV) infection. In the United States, Burkitt lymphoma often involves intra-abdominal organs or lymph nodes. Here, we present an interesting and exceedingly rare case of Burkitt lymphoma involving the heart in an HIV patient.

Case Presentation

A 40-year-old male presented with a newly noticed swelling in his right axilla. He reported a 40-pound weight loss along with occasional fever, night sweats, and abdominal pain. Physical examination revealed a 4 cm subcutaneous mass without skin changes. Vital signs and initial lab results were unremarkable. CT scans of the chest, abdomen, and pelvis revealed a 7-cm right axillary mass, marked diffuse thickening of the gastric and small bowel walls, and a large right atrial filling defect.
An excisional biopsy of the axillary mass confirmed Burkitt lymphoma. HIV serology was positive, with a viral load of 229,000 copies/ml, and LDH was elevated at 503 U/L. Peripheral blood smear showed no atypical cells, and bone marrow aspiration, biopsy, and flow cytometry were negative for lymphoma involvement. The patient was diagnosed with stage IIIBE Burkitt lymphoma and started on chemotherapy, including cyclophosphamide, doxorubicin, vincristine, methotrexate, ifosfamide, etoposide, and cytarabine.

After one month, a follow-up CT scan showed a significant reduction in the size of the right axillary and atrial masses, as well as in the thickening of the small bowel and gastric walls. Given the significant treatment response of the intracardiac mass, the diagnosis was confirmed as Burkitt lymphoma with intracardiac involvement.

Discussion

Intracardiac Burkitt lymphoma is an extremely rare malignancy, with only 22 reported cases to date. As with other forms of Burkitt lymphoma, HIV infection increases the risk of developing intracardiac Burkitt lymphoma. The symptoms are often nonspecific and cardiopulmonary symptoms such as palpitations or dyspnea can occur in other types of Burkitt lymphoma as well.

Given the highly aggressive nature of intracardiac Burkitt lymphoma and its potential to cause arrhythmias or pericardial effusion, which can lead to life-threatening conditions, early diagnosis is crucial. However, the extreme rarity of the disease and the nonspecific nature of its symptoms often lead to a low level of awareness among physicians, increasing the likelihood of missed diagnoses. Therefore, it is essential for physicians to maintain a high index of suspicion for intracardiac involvement when diagnosing Burkitt lymphoma.


AMA Research Challenge 2024 

A Rare Case of Burkitt Lymphoma Intracardiac Involvement in an HIV Patient

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Abstract Title: A Rare Find: Diagnosis and Prophylactic Treatment of Factor VII Deficiency in a Pregnant Female Undergoing Cesarian Section 

Background: 
Factor VII deficiency is a rare inherited autosomal recessive bleeding disorder which can vary greatly in its presentation and management. Factor VII plays a vital role in secondary hemostasis through its interaction with tissue factor in the extrinsic coagulation pathway activated in times of vascular injury. Phenotype can range from patients being asymptomatic to developing life-threatening bleeding involving the brain or gastrointestinal tract. Diagnosis is suspected in a bleeding patient with an isolated prolongation of the prothrombin time and confirmed with a serum factor VII level. Treatment consists of recombinant factor VIIa replacement therapy with the number of recommended doses dependent on the severity of bleeding. 

Case Presentation: 
Our patient is a 32-year-old Hispanic female who presented at 37 weeks pregnancy for planned Cesarean and further evaluation of abnormal coagulation studies noted at an outside facility. She endorsed symptoms of easy bruising, bleeding gums with oral hygiene, occasional nosebleeds and an extensive history of heavy menstrual bleeding.  She had previously been hospitalized for blood transfusion five years earlier for heavy menstrual bleeding lasting one month.  Family history was significant for a sister who had recently been diagnosed with a coagulopathy though patient was unsure of her sister's diagnosis.   Lab work showed a prothrombin time (PT) greater than 169 seconds, INR >15, PTT 25.7 seconds and complete blood count demonstrated hematocrit 35% and platelet count of 145,000.  She was given one dose of oral vitamin K 10 mg without benefit.  Factor VII level was found to be less than 0.4 and PT correction was noted with one-to-one mix, confirming a diagnosis of factor VII deficiency. Initial dose of recombinant VIIa 20 mcg/kg was given before her planned C-section with the next dose at 15 mcg/kg 4 hours post-operatively and every 6 hours thereafter for a total of 5 doses in a 24-hour period. She underwent cesarean section without significant bleeding and her PT and INR normalized with the therapy outlined above. She was discharged from the hospital and at 1 month follow-up had no further episodes of bleeding. 

Discussion: 
Our patient received factor VII replacement therapy and did not experience excessive bleeding with Cesarean section. This case demonstrates the phenotypic variation in the potential bleeding associated with Factor VII deficiency, with one-third of patients being asymptomatic during their life. Factor VII deficiency remains a disease to keep on one’s differential for an isolated elevation in PT and INR with a significant personal or family history of bleeding.

A Rare Find: Diagnosis and Prophylactic Treatment of Factor VII Deficiency in a Pregnant Female Undergoing Cesarian Section

Introduction
Castleman disease, a rare lymphoproliferative disorder, is classified as unicentric (one lymph node) or multicentric (multiple regions). The latter include POEMS-associated, HHV-8-associated, and idiopathic type . POEMS syndrome features polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. Approximately about 15 % of POEMS patients may have Castleman disease.
Case Presentation
A 28-year-old male from North Kerala, India, presented with pleuritic chest pain, worsening dyspnea, abdominal distention, intermittent fever, weight loss, and loss of appetite over months. He had a history of treated symmetrical polyarthritis. Examination revealed palpable bilateral lymph nodes, low normal BP, tachycardia, tachypnea, left tracheal deviation, stony dullness on lung percussion, and absent breath sounds bilaterally. Abdomen showed mild distention, palpable liver 2 cm below the costal margin, and dullness over Traube’s space. Neurological and musculoskeletal exams were unremarkable except for reduced CMAP amplitude in bilateral peroneal nerves on nerve conduction studies.
Laboratory findings included positive ANA and Anti-TPO antibodies, suggesting autoimmune etiology. Liver function showed albumin-globulin reversal indicating chronic inflammation. Negative HHV-8 ruled out multicentric Castleman disease. Serum Immunoelectrophoresis showed normal pattern, but elevated kappa lambda light chain ratio (1.86). Elevated ferritin (572 ng/mL) and LDH (752 U/L) indicated cellular damage or inflammation.
Pleural fluid analysis revealed exudative nature (4844 cells/cubic cm, pleural protein 4.1 g/dL, LDH 312 U/L). AFB and CBNAAT tests negative ruled out tuberculosis. ADA levels normal, cultures negative for bacterial infection. Cytology negative for malignancy; serology negative for HIV and other viruses.
Imaging showed bilateral pleural effusion, lower lobe collapse, moderate pericardial effusion, and mild interstitial thickening.
Excision biopsy of the right axillary lymph node showed features consistent with Castleman disease, specifically the hyaline vascular variant. Histopathological findings included distorted lymph node architecture, increased lymphoid follicles, atretic follicles, and sclerotic blood vessels penetrating the germinal centers (lollipop lesions). Mantle zones displayed concentric rings of small lymphocytes (onion skin arrangement).
Discussion
The diagnosis of POEMS syndrome in our patient is supported by the mandatory criteria of polyneuropathy and monoclonal gammopathy, confirmed by an abnormal light chain ratio. Additionally, Castleman disease fulfills a major criterion, while minor criteria such as pleural effusion, hepatomegaly, and thyroid endocrinopathy further contribute to the diagnosis.The patient was started on pulse corticosteroid therapy and low dose immunosuppressants that brought the patient into remission. This case highlights the importance of a comprehensive diagnostic approach and multidisciplinary management in addressing Castleman disease, hyaline vascular variant, with potential concurrent POEMS syndrome

A Tale of two syndromes: The Intersection of Castleman disease and POEMS Syndrome

Background 
Renal cell carcinoma (RCC) is the most prevalent kidney malignancy in adults, accounting for 80-85% of primary renal tumors. In advanced-stage RCC, up to 30% of patients develop skeletal metastasis, causing severe bone pain and reduced quality of life. Bone metastases are often due to increased blood flow and red marrow density in highly vascularized long and flat bones. While acrometastasis—metastasis to distal bones—is rare, the high vascularity and marrow density in adult hand bones may contribute to its occurrence in 0.1-0.3% of cases. This report describes a case where RCC recurrence was indicated by left hand acrometastasis one year after initial malignancy diagnosis. 

Case Presentation 
A 65-year-old man with a history of renal cell carcinoma presented with persistent pain and swelling in the distal left long finger for 6 months. Examination revealed tenderness, swelling, and erythema in the distal phalanx, but no issues in the shoulder, elbow, or forearm. An incisional biopsy confirmed metastatic RCC to the distal phalanx, with X-rays showing a destructive process and MRI revealing an enhancing subcutaneous mass with mild erosive changes. Orthopedic consultation led to a distal interphalangeal joint disarticulation of the finger. Post-surgery pathology confirmed metastatic RCC, and the patient was later admitted to hospice care. 

Discussion 
Acrometastasis in RCC results from hematogenous rather than lymphatic spread. Cancer cells must survive in the systemic circulation, invade the sinusoidal vessels, and establish a blood supply in the bone marrow to initiate metastasis. Key factors include heparanase, which promotes metastasis by degrading extracellular matrix components, and RANKL, which facilitates cancer cell migration and osteoclastogenesis. Both RANKL and its receptor RANK, as well as the decoy receptor OPG, are involved in bone remodeling and metastatic processes. 

Clinical signs of acrometastasis include erythema, pain, swelling, and functional impairment, but can mimic conditions like osteomyelitis or gout. Early and accurate diagnosis is crucial, necessitating imaging studies and tissue biopsies when possible. Distinguishing acrometastasis from other conditions is essential for appropriate treatment, given its poor prognosis with a median survival of 6 months. 

The rarity of acrometastasis means there is no standard treatment protocol; management focuses on palliation, including pain control, resection, and maintaining function. Resection might involve ray amputation or more conservative approaches like radiation for large, inoperable lesions. Though prognosis is generally poor, solitary osseous RCC lesions may have a better outcome with wide resection and nephrectomy.

Acrometastatic Disease of the Hand as an Indicator of Renal Cell Carcinoma Recurrence

Background
Ketorolac (Toradol) is a non-steroidal anti-inflammatory drug (NSAID) that is commonly used to reduce pain and inflammation. It inhibits prostaglandin synthesis by competitively blocking cyclooxygenase (COX) enzymes. Although Toradol has known adverse side effects to include agranulocytosis, cases of such are extremely rare. Here we present a unique case of severe agranulocytosis following Toradol administration.
Case Presentation
A 72 year-old male with a past medical history of moderate-severe rheumatoid arthritis on methotrexate, golimumab (Simponi) and prednisone, hypertension and type two diabetes mellitus presented with one week of progressive oropharyngeal dysphagia and odynophagia consistent with severe esophageal candidiasis; he was admitted for treatment with fluconazole. In the 2 days prior to admission, the patient was seen in the emergency room setting on multiple occasions and was administered 75 mg of intramuscular Toradol. His complete blood count (CBC) the day prior to admission was significant for a normal WBC (6.81), a mild anemia (11.5), and a mild thrombocytopenia (145). On the day of admission he received an additional 30 mg of Toradol. The following CBC revealed pancytopenia with a leukopenia of 0.72, anemia of 10.4, and thrombocytopenia of 101. Toradol was discontinued, and his home regimen for rheumatoid arthritis was held the entirety of admission. A broad workup for etiologies of pancytopenia was unrevealing. Viral serologies were negative, hemolytic labs and blood smear showed no signs of hemolysis as well as no blasts. Felty syndrome was also considered but imaging did not show splenomegaly. Additionally, an iron panel, B12 and Folate were normal. Bone marrow suppression was evident by a reticulocyte of 0.27% and a rapid drop in WBC and thus the patient was initiated on Neupogen, a granulocyte colony-stimulating factor, and leucovorin. Bone marrow biopsy and flow cytometry revealed hypercellular/hyperproliferative myeloid elements and low level of blasts (5%) after G-CSF administration. The patient required platelet and blood transfusions on hospital day 6 and counts began to recover shortly after. Patient was discharged after cell lines had returned to safe levels.
Discussion
In patients who are unable to tolerate oral NSAIDs, Toradol is commonly used. While
cytopenias are often seen in the in-patient setting, providers should be aware of potential side effects of NSAIDs including the rarely-seen severe agranulocytosis to allow for early discontinuation of offending medications.

Agranulocytosis Following Ketorolac Administration

Introduction:

Light chain (AL) amyloidosis is a rare plasma cell dyscrasia characterized by extracellular deposition of light chains in various organs, showing distinctive Congo Red (CR) staining on involved organ biopsy. Most patients with plasma cell dyscrasias will have evidence of a monoclonal protein in the serum or urine but it can be absent in approximately 3% of patients. For such patients, serum free light chain (FLC) assay is a critical component of diagnostic evaluation. Amyloidosis can have broad clinical findings with non-specific manifestations including cutaneous, musculoskeletal, and cardiac, that overlap with certain rheumatological disorders like scleroderma. This makes amyloidosis a challenging diagnosis, which is often diagnosed after significant delay or misdiagnosed as another entity. We present a case of amyloidosis initially misdiagnosed as scleroderma. 

Case presentation: 

A 54-year-old woman with a past medical history of ulcerative colitis and rectal adenocarcinoma treated with surgical resection presented with severe skin thickening, pruritus, macroglossia, Raynaud’s phenomenon, and inflammatory arthritis. An extensive serologic workup for rheumatologic conditions was negative for a definitive diagnosis. As part of the workup, serum protein electrophoresis (SPEP) was obtained which showed hypogammaglobulinemia, however, no immunofixation (IFE) or FLC assay was ordered. Despite the negative serologic workup, due to high clinical suspicion, she was treated for a presumed diagnosis of scleroderma with sequential trials of prednisone, methotrexate, and mycophenolate mofetil, without improvement in her symptoms. About 2 years later with macroglossia still present, repeat SPEP, IFE, and FLC were obtained and revealed no M spike but did show lambda light chains elevated to 36.58 mg/dL, kappa light chains 0.5 mg/dL, with a FLC ratio of 73 (normal 0.26 to 1.65). Subsequently, a bone marrow (BM) biopsy was performed, which showed mildly hypocellular BM for her age (30% cellularity) and an abnormal plasma cell population constituting approximately 30% of the marrow, identified by immunohistochemistry against CD138, and they were found to be lambda light chain restricted by in-situ hybridization. CR stain was negative on the BM biopsy. Due to suspicion of underlying amyloidosis given history of macroglossia, an echocardiogram was ordered, which revealed moderate concentric hypertrophy of the left ventricle, consistent with infiltrative cardiomyopathy, which was then confirmed on cardiac MRI. An endomyocardial biopsy was subsequently performed, which stained positive for CR, and liquid chromatography/mass spectrometry confirmed AL amyloidosis. The patient was treated with amyloidosis directed therapies followed by an autologous peripheral blood stem cell transplant. Her prior symptoms resolved after treatment and macroglossia improved by over 50%.


Discussion: 

Amyloidosis may initially present with non-specific manifestations like skin thickening and infiltrative cardiomyopathy that can have clinical overlap with various rheumatologic disorders such as scleroderma. Our patient was initially misdiagnosed with scleroderma. Increased awareness and checking FLC may have led to earlier diagnosis and improvement in morbidity. This case highlights the need to consider an alternative diagnosis when symptoms fail to respond to appropriate therapy and the need for provider awareness regarding complete workup for paraproteinemia including FLC with SPEP and IFE when looking for amyloidosis as 50% of amyloidosis cases have light chain only involvement. 


Amyloidosis Masquerading as Scleroderma: A Case Report

An unusual Hemophilia: Acquired Coagulation Factor Inhibitor
Le Yen Ly Nguyen, Pragti Garg, Arshdeep Singh, Amanpreet Kaur, Akhilesh Sharma, Matthew B Maturasingh, Dileep Duggineni, Dolshi Bhatia, Kanish Chandrashekhar, Daniela Benitez, Fabian Andres Lituma Orellana, Ratesh Khillan MD

Background
Acquired Factor V deficiency (AFVD) is an exceedingly rare coagulation disorder, usually caused by development of an inhibitor, that may directly affect Factor V/V activity (FVa) or storage and processing of the protein. Only approximately 200 case reports or case series describing this disorder have been reported in the literature. Presenting symptoms include bleeding from gastric, urinary, and respiratory mucosa, post-surgical bleeding, hematoma, intracranial and retroperitoneal bleeding with hematuria being the most common. Several diagnoses may be postulated for patients affected by bleeding i.e., platelet deficiency or deficiency of coagulation factors. AFVD should also be considered in patients who present with bleeding after ruling out more common bleeding conditions. With the fact that AFVD is an extremely rare disorder, the optimal treatment of patients with factor V inhibitors is uncertain with no Factor V concentrates available.
In this study, we present a unique case of an 81-year-old African American male with AFVD without any history of autoimmune diseases, surgery, malignancy, exposure to bovine thrombin or recent antibiotics use.

Case presentation
An 81-year-old African American male presented to our clinic in 2013 after being admitted to hospital with chest pain, where he subsequently developed a hematoma on his lower abdomen and bilateral thighs, painless macrohematuria, anemia, and swelling of left extremities. The bloodwork showed hemoglobin 6.0, INR 6.7, aPTT >100.0, and normal coagulation factor activity except for FVa <1.5%. Mixing studies showed presence of Factor V inhibitor. Following discharge, he experienced recurrent painless macrohematuria. The patient was started on oral prednisone, and the dose was adjusted according to FVa. 4 cycles of Rituximab were also given.
In subsequent years, he developed recurring painless superficial bruises on elbows, abdomen, back and thighs, microhematuria and epistaxis. The patient was given 4 cycles of Cytoxan along with Prednisone, a few months later followed by Dexamethasone pulse therapy to maintain FVa levels.
Presently, the patient’s FVa is at 80%, and he has been taking oral Prednisone daily for the past 11 years.

Discussion
Acquired hemophilia is a rare hematological disorder mostly affecting Factors VIII or IX due to a clotting factor inhibitor. Although inhibitors may affect any clotting factors, Factor V inhibitor is exceedingly rare, making treatment challenging with no standards. Our patient responded to cyclophosphamide and prednisone. His treatment course included a drop in factor V levels without bleeding, managed by increasing steroid doses.

An unusual Hemophilia: Acquired Coagulation Factor Inhibitor.

Introduction
Post-obstructive pneumonia (POP) is an infection of the lung parenchyma that arises distal to a bronchial obstruction, commonly associated with malignancies such as lung cancer. In these cases, the tumor obstructs the bronchus, impairing secretion clearance and creating a favorable environment for infection. In patients with multiple myeloma, the occurrence of AL amyloidosis, where amyloid light chains deposit in various organs, further complicates the clinical picture. In non-smoker patients with a history of multiple myeloma and new-onset POP, the presence of a bronchial mass should raise suspicion for amyloidoma and plasmacytoma.

Case
A 58-year-old non-smoker female with a history of multiple myeloma, neuropathy, and chronic kidney disease presented with shortness of breath, fever, productive cough, hypotension, tachycardia, tachypnea and a dull, constant pain radiating from the right chest to the back. Initial chest X-ray revealed consolidation and a mass in the right middle lobe. After treatment for pneumonia, a follow-up chest CT identified a 4.6 cm x 5.4 cm mass with calcifications and septation, raising suspicion for malignancy due to bronchial obstruction. The mass was surgically resected, and histopathological analysis confirmed amyloidoma. Further workup was negative for systemic amyloidosis, and myeloma evaluation indicated the patient was in remission.

Discussion
Tracheobronchial amyloidosis is the most common form of localized primary pulmonary amyloidosis, characterized by the deposition of amyloid light chain (AL) proteins within the bronchial structures. This condition can present with symptoms that closely resemble bronchogenic carcinoma, including cough, dyspnea, hemoptysis, and wheezing, largely due to airway obstruction and luminal stenosis. Bronchoscopic evaluation often reveals nodules, masses, or diffuse narrowing of the bronchial lumen, making biopsy critical for accurate diagnosis. Post-obstructive pneumonia, a common complication of bronchial obstruction, can lead to serious outcomes such as empyema, lung abscess, and fistula formation if not treated promptly. To mitigate these risks and improve airway patency, treatment typically involves bronchoscopic interventions, including laser resection, stenting, and external beam radiation, which help to alleviate symptoms and prevent further complications.


Bronchial Amyloidoma: An Unusual Etiology of Post-Obstructive Pneumonia in a Patient with Multiple Myeloma


Non-small cell carcinoma (NSCC) accounts for 85-90% of lung cancer cases. Generally, treatment options depend on the staging and metastases of the tumor and can consist of surgical resection, radiation therapy, chemotherapy, or immune checkpoint therapy. We present a rare case of a 63-year-old male with a history of NSCC who presented with shortness of breath and low sodium levels and was found to have an unusually high rate of 49.5% for an EGFR (L858R domain, an exon 21 mutation), allowing for better-individualized therapy and opening new avenues for research and more effective treatments.

Cancer Genomics: A Gateway To Personalized Medicine

Background: Chronic Lymphocytic Leukemia (CLL) is a common hematologic malignancy characterized by the proliferation of mature B lymphocytes. The disease accounts for a significant proportion of adult leukemias, with an estimated annual incidence of 4.5 cases per 100,000 individuals. Despite its prevalence, CLL can present with diverse clinical manifestations, posing diagnostic and therapeutic challenges. One of them is clonal evolution, which refers to the acquisition of genetic mutations by leukemic B cells over time, resulting in the development of subclones with distinct genetic characteristics. As the disease progresses, different sub-clones may become dominant, contributing to disease relapse and resistance to treatment.
Methods: This case report presents the clinical evolution of a 65-year-old patient diagnosed with CLL, focusing on clonal evolution and treatment response. The patient was first diagnosed with CLL in 2017, with flow cytometry revealing CLL characterized by negative CD34 and positive CD49d markers. Fluorescence in situ hybridization (FISH) analysis revealed trisomy 12 in 65% of cells. The patient received 5 cycles of chemotherapy out of 6 prescribed cycles. The therapy was withheld due to thrombocytopenia. Although the patient received his last chemotherapy in March 2018, he continued to exhibit persistent pancytopenia during blood work conducted in July 2023, prompting a bone marrow biopsy and FISH analysis. Results demonstrated a decrease to 57% in trisomy 12 prevalence, accompanied by the emergence of a NOTCH1 mutation. In flow cytometry, CD49d was negative, indicating a change in the phenotype of the leukemic cells as well.
Results: The patient's CLL exhibited dynamic clonal evolution, as evidenced by changes in cytogenetic abnormalities and the acquisition of a NOTCH1 mutation over the course of the disease. Despite initial responses to treatment, including a complete remission with incomplete bone marrow recovery after chemoimmunotherapy, the disease eventually progressed, necessitating the initiation of targeted therapy.
Conclusion: This case highlights the dynamic nature of CLL and the impact of clonal evolution on disease progression and treatment response. Molecular monitoring, including FISH analysis and mutation profiling, is essential for identifying changes in disease biology and tailoring treatment strategies accordingly. Understanding the underlying mechanisms of clonal evolution in CLL is crucial for optimizing treatment outcomes and improving patient care.

Dynamic Clonal Evolution in Chronic Lymphocytic Leukemia: Case Study and Treatment Implications

Background
Kagami-Ogata syndrome (KOS, OMIM 608149) is a rare genetic imprinting disorder involving microdeletions and epimutations affecting a maternally inherited locus (14q32.2) in chromosome 14. Neonates commonly present abnormal phenotypic features such as facial dysmorphia, abdominal wall defects, and skeletal abnormalities.  Around 80 cases of KOS were reported in literature, and the incidence rate is estimated at less than 1 in 1,000,000 newborns.

Case Presentation
We describe the clinical case of a preterm newborn found with polyhydramnios who was delivered by C-section at 32 weeks by a 30-year-old African American female (G4 P3 Ab1 LC2) with a history of severe pre-eclampsia and sickle cell trait. Fetal ultrasound revealed an omphalocele, lung mass, and left-axis deviation of the heart. Chest X-ray indicated features associated with respiratory distress syndrome (RDS) and a bell-shaped chest indicating pulmonary hypoplasia. A chromosome microarray was performed to determine the underlying cause of this newborn presentation.

Discussion
Chromosome microarray analysis confirmed homozygosity of chromosome 14, indicating paternal uniparental isodisomy, which supports the diagnosis of KOS. This case demonstrates the classical symptoms including coat hanger deformity, presence of omphalocele, and bell-shaped thorax revealed by imaging. This patient exhibits facial dysmorphism characterized by hirsute forehead, depressed nasal bridge, micrognathia, webbed neck, and small ears. KOS can be mistaken for other diseases like Beckwith-Wiedemann syndrome, trisomy 18, androgenic mosaicism due to phenotypic overlap. That is why when there are symptoms suggestive of BWS like macrosomia, polyhydramnios, and omphalocele are present, with genetic testing not confirming it, KOS should be tested. The management entails supportive measures like mechanical ventilation, tube feeding, and therapy for developmental delay, necessitating a multidisciplinary approach.

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