Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child

Postural Orthostatic Tachycardia Syndrome (POTS) is a debilitating disease with a commonly non-uniform and unspecific presentation that makes diagnosis difficult. A twelve-year-old girl, recently diagnosed with Addison’s Disease, was referred to paediatric nephrology for Fludrocortisone-induced noct...

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Autores principales:	Guido Filler, Lana Rothfels
Formato:	article
Lenguaje:	EN
Publicado:	The Beryl Institute 2018
Materias:	postural orthostatic tachycardia syndrome (pots) ehlers-danlos-syndrome growth retardation pyridostigmine Medicine (General) R5-920 Public aspects of medicine RA1-1270
Acceso en línea:	https://doaj.org/article/a67f2648096e48bc9adb3de0aaf20068
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spelling	oai:doaj.org-article:a67f2648096e48bc9adb3de0aaf200682021-11-15T04:25:52ZTertiary care centres must do more for patients with unknown conditions: Lessons learned from a child2372-0247https://doaj.org/article/a67f2648096e48bc9adb3de0aaf200682018-07-01T00:00:00Zhttps://pxjournal.org/journal/vol5/iss2/6https://doaj.org/toc/2372-0247Postural Orthostatic Tachycardia Syndrome (POTS) is a debilitating disease with a commonly non-uniform and unspecific presentation that makes diagnosis difficult. A twelve-year-old girl, recently diagnosed with Addison’s Disease, was referred to paediatric nephrology for Fludrocortisone-induced nocturnal hypertension. She had fallen off the growth curve for both height and weight from the 50th percentile at birth to below the 5th percentile at presentation. The severity and multitude of her symptoms, including muscle weakness, poor body control, dizziness, light headedness, persistent fatigue, excessive sweating, tachycardia, chronic constipation and recurrent infection hinted at the unusual nature of this case of Addison’s. At the time of referral, she had been seen by more than a dozen specialists and subspecialists as well as undergone a number of tests including neurophysiological testing without sufficient explanation. With the help of tilt-table testing, we established the diagnosis of POTS. There is a lack of tested treatment options for POTS, and we established dosing of pyridostigmine in children, based on the emerging literature in adults. While pyridostigmine therapy substantially improved her quality of life, it took another 6 years and referral outside the country, before a final unifying diagnosis was made. Eventually, the patient was diagnosed with Ehlers Danlos Syndrome with associated autonomic dysfunction, including POTS, as well as primary adrenal insufficiency. The parents and the patient experienced considerable stress due to the lack of willingness of many physicians that the family encountered to search for a diagnosis and a treatment.Guido FillerLana RothfelsThe Beryl Institutearticlepostural orthostatic tachycardia syndrome (pots)ehlers-danlos-syndromegrowth retardationpyridostigmineMedicine (General)R5-920Public aspects of medicineRA1-1270ENPatient Experience Journal (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	postural orthostatic tachycardia syndrome (pots) ehlers-danlos-syndrome growth retardation pyridostigmine Medicine (General) R5-920 Public aspects of medicine RA1-1270
spellingShingle	postural orthostatic tachycardia syndrome (pots) ehlers-danlos-syndrome growth retardation pyridostigmine Medicine (General) R5-920 Public aspects of medicine RA1-1270 Guido Filler Lana Rothfels Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child
description	Postural Orthostatic Tachycardia Syndrome (POTS) is a debilitating disease with a commonly non-uniform and unspecific presentation that makes diagnosis difficult. A twelve-year-old girl, recently diagnosed with Addison’s Disease, was referred to paediatric nephrology for Fludrocortisone-induced nocturnal hypertension. She had fallen off the growth curve for both height and weight from the 50th percentile at birth to below the 5th percentile at presentation. The severity and multitude of her symptoms, including muscle weakness, poor body control, dizziness, light headedness, persistent fatigue, excessive sweating, tachycardia, chronic constipation and recurrent infection hinted at the unusual nature of this case of Addison’s. At the time of referral, she had been seen by more than a dozen specialists and subspecialists as well as undergone a number of tests including neurophysiological testing without sufficient explanation. With the help of tilt-table testing, we established the diagnosis of POTS. There is a lack of tested treatment options for POTS, and we established dosing of pyridostigmine in children, based on the emerging literature in adults. While pyridostigmine therapy substantially improved her quality of life, it took another 6 years and referral outside the country, before a final unifying diagnosis was made. Eventually, the patient was diagnosed with Ehlers Danlos Syndrome with associated autonomic dysfunction, including POTS, as well as primary adrenal insufficiency. The parents and the patient experienced considerable stress due to the lack of willingness of many physicians that the family encountered to search for a diagnosis and a treatment.
format	article
author	Guido Filler Lana Rothfels
author_facet	Guido Filler Lana Rothfels
author_sort	Guido Filler
title	Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child
title_short	Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child
title_full	Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child
title_fullStr	Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child
title_full_unstemmed	Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child
title_sort	tertiary care centres must do more for patients with unknown conditions: lessons learned from a child
publisher	The Beryl Institute
publishDate	2018
url	https://doaj.org/article/a67f2648096e48bc9adb3de0aaf20068
work_keys_str_mv	AT guidofiller tertiarycarecentresmustdomoreforpatientswithunknownconditionslessonslearnedfromachild AT lanarothfels tertiarycarecentresmustdomoreforpatientswithunknownconditionslessonslearnedfromachild
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Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child

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