Pierson Syndrome Associated with Hypothyroidism and Septic Shock
| Autor: | Areeba Ejaz, Meher Binte Ali, Mashal Binte Ali, Fatima Siddiqui, Ammarah Jamal |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Case Report Disease 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Hypothyroidism medicine Pakistan Hypocalcaemia Congenital nephrotic syndrome Congenital Microcoria Microcoria and Congenital Nephrotic Syndrome Psychomotor retardation Septic shock business.industry General Medicine Microcoria medicine.disease Hypotonia Septic Shock 030221 ophthalmology & optometry Pierson Syndrome medicine.symptom business Nephrotic syndrome |
| Zdroj: | Sultan Qaboos University Medical Journal |
| ISSN: | 2075-0528 2075-051X |
| DOI: | 10.18295/squmj.2020.20.04.017 |
| Popis: | 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. Keywords: Pierson Syndrome; Microcoria and Congenital Nephrotic Syndrome; Congenital Microcoria; Hypothyroidism; Septic Shock; Case Report; Pakistan. |
| Databáze: | OpenAIRE |
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