The cause of eyelid ptosis, orthostatic hypotension and exercise intolerance. (9th March 2022)

• Record Type: Journal Article
• Authors: Monnens, Leo
• Is Part Of: Acta pædiatrica. Volume 111:Number 6(2022)
• Page Start: 1134
• Page End: 1136
• Publication Date: 2022-03-09
• Subjects: dopamine beta‐hydroxylase deficiency -- eyelid ptosis -- L‐threo‐3, 4‐dihydroxyphenylserine [L‐DOPS] -- orthostatic hypotension; Pediatrics -- Periodicals; Pediatrics; 618.92
• DOI: 10.1111/apa.16312
• Languages: English
• ISSNs: 0803-5253

Abstract

Abstract: To provide more insight in the delay in diagnosis and expectation of treatment adapted for the paediatrician, the data were collected from patients described with dopamine beta‐hydroxylase deficiency are evaluated. More insight in clinical features of dopamine beta‐hydroxylase deficiency consisting mainly of eyelid ptosis, orthostatic hypotension, hypoglycaemia and exercise intolerance, explains the delay in diagnosis of this congenital disorder, although all symptoms some more concealed are present. An increasing experience by L‐DOPS, a resurrection for the patient, allows recommendations for early treatment. An explanation for the delay in diagnosis is provided together with the advice for treatment.