Abstract
Syndrome of inappropriate antidiuretic hormone (SIADH) secretion is a recognisable complication of acute porphyria. We report a nine-year-old female patient with hereditary tyrosinaemia type 1 and poor adherence to nitisinone therapy who presented with acute abdominal pain, vomiting and lethargy at Sultan Qaboos University Hospital, Muscat, Oman in 2016. She subsequently developed generalised tonic-clonic seizures attributable to severe hyponatremia that met the diagnostic criteria of SIADH. The acute porphyria screen also appeared positive. The patient responded well to fluid restriction and was discharged home without immediate neurological sequelae. Although acute porphyria is also a recognised complication of uncontrolled tyrosinaemia type 1, to the best of the authors’ knowledge, no patient with tyrosinaemia type 1 has been reported to present with SIADH.
Publication Date
6-21-2021
First Page
e312
Last Page
315
Creative Commons License
This work is licensed under a Creative Commons Attribution-No Derivative Works 4.0 International License.
Recommended Citation
Al-Hinai, Abdulhamid; Al-Murshedi, Fathiya; Al-Nabhani, Dana; and Al-Thihli, Khalid
(2021)
"Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1,"
Sultan Qaboos University Medical Journal: Vol. 21: e312-315.
DOI: https://doi.org/10.18295/squmj.2021.21.02.023