{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T10:28:37Z","timestamp":1793701717205,"version":"4.5.1"},"reference-count":0,"publisher":"Sultan Qaboos University","issue":"4","license":[{"start":{"date-parts":[[2020,12,21]],"date-time":"2020-12-21T00:00:00Z","timestamp":1608508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sultan Qaboos University Medical Journal"],"abstract":"<jats:p>Pierson syndrome is caused by mutations in the laminin \u03b22 gene causing absent \u03b22 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.<\/jats:p>","DOI":"10.18295\/squmj.2020.20.04.017","type":"journal-article","created":{"date-parts":[[2021,1,24]],"date-time":"2021-01-24T06:11:19Z","timestamp":1611468679000},"page":"e385-389","source":"Crossref","is-referenced-by-count":2,"title":["Pierson Syndrome Associated with Hypothyroidism and Septic Shock"],"prefix":"10.18295","volume":"20","author":[{"given":"Areeba","family":"Ejaz","sequence":"first","affiliation":[{"name":"Department of Pediatric Oncology, The Indus Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meher B","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Siddiqui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashal B","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ammarah","family":"Jamal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan; Department of Pediatrics, Dr. Ruth K. M Pfau Civil Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7681","published-online":{"date-parts":[[2020,12,21]]},"container-title":["Sultan Qaboos University Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.squ.edu.om\/index.php\/squmj\/article\/download\/3954\/2989","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.squ.edu.om\/index.php\/squmj\/article\/download\/3954\/2989","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T09:49:40Z","timestamp":1793699380000},"score":1,"resource":{"primary":{"URL":"https:\/\/mjournal.squ.edu.om\/home\/vol20\/iss4\/17"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,21]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,12,21]]}},"URL":"https:\/\/doi.org\/10.18295\/squmj.2020.20.04.017","relation":{},"ISSN":["2075-0528"],"issn-type":[{"value":"2075-0528","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,21]]}}}