الملخص
Pierson syndrome is caused by mutations in the laminin β2 gene causing absent β2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation. We report a two-month old boy who presented to the Pediatrics Department of Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan, in 2015, with the typical features of microcoria and congenital nephrotic syndrome. The hypocalcaemia, hypoproteinaemia and probable immunocompromised state consequent to nephrotic syndrome resulted in seizures, hypothyroidism and urosepsis. Despite being treated aggressively with high dose antibiotics, ionotropic support, angiotensin-converting enzyme inhibitors, thyroxine replacement and nutritional support, the infant died due to significant multiorgan disease including renal failure and septic shock.
بيانات النشر
- المعرّف الرقمي
- 10.18295/squmj.2020.20.04.017
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 20(4), e385-389
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Ejaz, A., Ali, M. B., Siddiqui, F., Ali, M. B., & Jamal, A. (2025). Pierson Syndrome Associated with Hypothyroidism and Septic Shock. Sultan Qaboos University Medical Journal, 20(4), e385-389. https://doi.org/10.18295/squmj.2020.20.04.017
MLA 9
Ejaz, Areeba, et al. "Pierson Syndrome Associated with Hypothyroidism and Septic Shock." Sultan Qaboos University Medical Journal, vol. 20, no. 4, 2025, pp. e385-389. https://doi.org/10.18295/squmj.2020.20.04.017.
شيكاغو (المؤلف–التاريخ)
Ejaz, Areeba, Meher B. Ali, Fatima Siddiqui, Mashal B. Ali, and Ammarah Jamal. 2025. "Pierson Syndrome Associated with Hypothyroidism and Septic Shock." Sultan Qaboos University Medical Journal 20 (4): e385-389. https://doi.org/10.18295/squmj.2020.20.04.017.
هارفارد
Ejaz, A., Ali, M. B., Siddiqui, F., Ali, M. B. and Jamal, A. (2025) 'Pierson Syndrome Associated with Hypothyroidism and Septic Shock', Sultan Qaboos University Medical Journal, 20(4), pp. e385-389. doi:10.18295/squmj.2020.20.04.017.
فانكوفر
Ejaz A, Ali MB, Siddiqui F, Ali MB, Jamal A. Pierson Syndrome Associated with Hypothyroidism and Septic Shock. Sultan Qaboos University Medical Journal. 2025;20(4):e385-389. doi:10.18295/squmj.2020.20.04.017
IEEE
A. Ejaz, M. B. Ali, F. Siddiqui, M. B. Ali, and A. Jamal, "Pierson Syndrome Associated with Hypothyroidism and Septic Shock," Sultan Qaboos University Medical Journal, vol. 20, no. 4, pp. e385-389, 2025, doi: 10.18295/squmj.2020.20.04.017.