Case Report
Clinical and Genetic Characterization of Two Siblings with SCN9A-Related Congenital Insensitivity to Pain Type 1: Two Case Reports
Issue:
Volume 7, Issue 3, September 2026
Pages:
34-39
Received:
19 February 2026
Accepted:
24 August 2026
Published:
15 September 2026
Abstract: Congenital insensitivity to pain (CIP) is an extremely rare syndrome with various clinical features, characterized by a dramatic impairment of pain perception since birth. Although many genes are known to cause this condition, SCN9A-related disease remains underrecognized, and affected individuals cannot perceive pain despite preserved tactile sensation, predisposing them to repeated unnoticed injuries, fractures, burns, and joint deformities. Here, we report two siblings with genetically confirmed SCN9A-related type 1 CIP: the first is a female patient who experienced fractures with delayed detection, anosmia, recurrent hand and foot inflammation, and life-long absence of pain response, while the second is her brother, who demonstrated similar features along with progressive lower-limb deformity, limb-length discrepancy, and multiple soft-tissue injuries resulting from unrecognized trauma; both had unremarkable perinatal and developmental histories. These findings illustrate that CIP remains a rare and diagnostically challenging condition, highlighting clinical features that can guide early identification, including lack of pain perception, recurrent trauma, painless inflammatory episodes, and preserved non-nociceptive sensation; genetic testing plays a central role in confirming the diagnosis, and long-term management requires multidisciplinary care, regular radiological monitoring, and comprehensive family education to reduce preventable complications. Overall, this case series highlights a rare familial neurological condition in which early recognition and treatment can make a meaningful difference in preventing progressive deformity and disability, and increasing awareness of this uncommon condition may improve diagnostic timing and patient outcomes.
Abstract: Congenital insensitivity to pain (CIP) is an extremely rare syndrome with various clinical features, characterized by a dramatic impairment of pain perception since birth. Although many genes are known to cause this condition, SCN9A-related disease remains underrecognized, and affected individuals cannot perceive pain despite preserved tactile sens...
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Case Report
Diagnostic Challenges and Management of Paroxysmal Nocturnal Hemoglobinuria: A Case Report from Nepal
Priya Karna*
,
Gaurav Karn
Issue:
Volume 7, Issue 3, September 2026
Pages:
40-43
Received:
3 June 2026
Accepted:
17 June 2026
Published:
12 November 2026
Abstract: This case report focuses on a 26-year-old man from Nepal who was diagnosed with paroxysmal nocturnal haemoglobinuria (PNH), an uncommon and potentially life-threatening haematological disorder. PNH is characterised by chronic intravascular haemolysis, bone marrow failure, and an increased risk of thrombosis, which can contribute to considerable clinical complications. The patient presented with several symptoms, including generalised weakness, jaundice, recurrent episodes of nosebleeds, dark-coloured urine, and pain in the large joints during the winter season. These symptoms had developed over time and reflected the varied clinical manifestations that can occur in patients with PNH. On clinical examination, the patient had scleral icterus and hepatomegaly, supporting the presence of an underlying haemolytic condition. Laboratory investigations demonstrated severe anaemia, leukopenia, an elevated lactate dehydrogenase level, and a significant PNH clone identified through flow cytometric analysis. Bone marrow examination also revealed findings that were consistent with the diagnosis of PNH. The combination of the patient’s clinical presentation, laboratory abnormalities, flow cytometry findings, and bone marrow results helped establish the final diagnosis. This report highlights the diagnostic difficulties associated with PNH because of its rarity and diverse clinical presentation, which may delay accurate recognition of the condition. It also reviews the available treatment approaches, including eculizumab and corticosteroids. Overall, the case emphasises the importance of maintaining clinical awareness and achieving a timely and accurate diagnosis to support the effective management of this rare and potentially fatal haematological disorder.
Abstract: This case report focuses on a 26-year-old man from Nepal who was diagnosed with paroxysmal nocturnal haemoglobinuria (PNH), an uncommon and potentially life-threatening haematological disorder. PNH is characterised by chronic intravascular haemolysis, bone marrow failure, and an increased risk of thrombosis, which can contribute to considerable cli...
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