Case Report
A Rare Case of Adult-onset Niemann-Pick Disease Type C with PEX6 Mutation: Novel Genetic Insights
Aditya Bishayee*,
Sagar Basu
,
Soumesh Roy,
Avas Chandra Ray
Issue:
Volume 11, Issue 2, April 2025
Pages:
18-22
Received:
10 June 2025
Accepted:
26 June 2025
Published:
19 July 2025
Abstract: Background: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative disorder. Adult-onset presentations are particularly uncommon and often misdiagnosed. Here, we report a rare case of NPC type C associated with a novel mutation in NPC1 and an additional mutation in the PEX6 gene, which has not been previously documented. Methods: A detailed clinical evaluation, laboratory investigations, imaging studies, and whole-exome sequencing were conducted. Results: A 29-year-old male presented with neuropsychiatric symptoms and splenomegaly. Genetic testing identified two significant mutations: c.3591+3G>T in NPC1 and c.2256del in PEX6. Clinical features were consistent with NPC type C1; however, no phenotypic expression of PEX6 mutation was observed, its potential modifying effects cannot be excluded. Conclusions: This case highlights the diagnostic challenges and genetic complexity of NPC, emphasizing the importance of genetic testing in rare diseases. Further studies are required to explore the clinical significance of co-occurring mutations. A lack of access to specific NPC therapies and long-term follow-up data remains a challenge in such rare cases.
Abstract: Background: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative disorder. Adult-onset presentations are particularly uncommon and often misdiagnosed. Here, we report a rare case of NPC type C associated with a novel mutation in NPC1 and an additional mutation in the PEX6 gene, which has not been previously documented. ...
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Case Report
A Case of Atypical Cor Triatriatum Sinister Persisting into Adulthood
Issue:
Volume 11, Issue 2, April 2025
Pages:
23-27
Received:
28 June 2025
Accepted:
23 July 2025
Published:
11 August 2025
DOI:
10.11648/j.ijcems.20251102.12
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Abstract: Background: Cor-triatriatum is a rare congenital cardiac anomaly characterized by a fibromuscular membrane that divides the left atrium into two chambers, giving the appearance of three atrial compartments. It typically presents during infancy or childhood due to obstructive symptoms but may remain undiagnosed until adulthood in milder or non-obstructive cases. Case Presentation: A 33-year-old Ethiopian male with no known past medical history presented with a one-month history of progressive shortness of breath, orthopnea, paroxysmal nocturnal dyspnea, and bilateral leg swelling. He also reported a productive cough, pleuritic chest pain, and high-grade intermittent fever of similar duration. Physical examination and initial investigations suggested decompensated heart failure and pneumonia. Transthoracic echocardiography revealed findings consistent with cor-triatriatum sinister. Despite initiation of supportive care, intravenous antibiotics, diuretics, and mechanical ventilation, the patient’s condition deteriorated. He ultimately developed cardiogenic shock and died during hospitalization. Conclusion: Cor-triatriatum is a rare but important cause of heart failure in adult patients. This case demonstrates that congenital heart disease can remain clinically silent for decades and may present with acute decompensation. Awareness and early recognition of this anomaly, especially in resource-limited settings, are essential for timely diagnosis and management. Point-of-care ultrasound can be a valuable tool in such environments for rapid cardiac assessment and should be considered when evaluating patients with unexplained heart failure symptoms.
Abstract: Background: Cor-triatriatum is a rare congenital cardiac anomaly characterized by a fibromuscular membrane that divides the left atrium into two chambers, giving the appearance of three atrial compartments. It typically presents during infancy or childhood due to obstructive symptoms but may remain undiagnosed until adulthood in milder or non-obstr...
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