Diagnoses you've seen?

Published

What are some of the diagnoses of your past or present clients? Some of the ones I've seen- 6q Deletion Syndrome, Pseudoparahypothyroidism, Lissencephaly, Spinal Muscular Atrophy, Duchenne's MD, Mitochondrial Disease, Rett Syndrome, & Tracheomalacia.

I have a child with DM1 and another with Williams

Up Vote Up Vote ×
Specializes in NICU, ICU, PICU, Academia.

My clients over the years have had diagnoses of:

C1-C2 quadriplegia

Ondine's curse (congenital central hypoventilation syndrome)

BPD (bronchopulmonary dysplasia)

Pulmonary atresia/ hypoplastic right heart

Hypoplasic left heart

Diaphragmatic hernia

Microcephaly

CP / traumatic brain injury

CHARGE syndrome

Pierre-Robin

Marateaux-Lamy Syndrome (sp?)

Tetralogy of Fallot

Transposition

Extreme prematurity/ intraventricular hemorrhage

However, every single one of them had one diagnosis in common: CKS (Cute Kid Syndrome)

Up Vote Up Vote ×

Great thread! Gave me lots to study!

Up Vote Up Vote ×
Specializes in Peds(PICU, NICU float), PDN, ICU.

A few more...

Sarcoidosis

Hemangioma

Quadriplegic from car accident x6 (vent dependent)

ALS (worked a couple of adult cases)

Plus a few others have mentioned as well. I'll keep thinking of more. I'm sure there is more.

Up Vote Up Vote ×
Specializes in Pediatric.
This is an interesting aspect of PDN!

Some I have encountered, starting with heart: Tetrology of Fallot, Pulmonary (valve) atresia, then neuro: Spina bifida, Acardi Syndrome, traumatic brain injury, and CP, of course.

Then, Esophogeal eosinophilia, and CHARGE Syndrome. Both very interesting.

Hi Texan, I had a patient with CHARGE too- it's pretty rare.

Sent from my iPhone using allnurses.com

Up Vote Up Vote ×

CP

18q- syndrome

CHARGE syndrome

Failure to thrive

TBI

Down syndrome

Trisonomy 9

Up Vote Up Vote ×
Specializes in Medsurg/ICU, Mental Health, Home Health.

I'm an adult MICU nurse, but this thread is fascinating. In grad school, I'm relearning all of the congenital cardiac defects so it's piqued my interest in pediatric patients especially. So not my thing, but it's really awesome to learn about this. Please keep it up!

To be completely honest, I've never heard of a chunk of these!

Up Vote Up Vote ×
Specializes in NICU, ICU, PICU, Academia.
I'm an adult MICU nurse, but this thread is fascinating. In grad school, I'm relearning all of the congenital cardiac defects so it's piqued my interest in pediatric patients especially. So not my thing, but it's really awesome to learn about this. Please keep it up!

To be completely honest, I've never heard of a chunk of these!

Seriously- there are a thousand and one ways to be born with a jacked up heart. We had a kid last year whose heart was backwards in his chest (front-to-back backwards) AND had situs inversus (backwards left-to-right) AND had Transposition of the Great Arteries (aorta and pulmonary arteries arising from the wrong ventricle). Wrap your head around THAT DeLana!!!!!

Up Vote Up Vote ×
Specializes in pediatric.

My patient (14 yo male) has CHARGE syndrome and had hamstring and psoas lengthening surgery for contractures. He is also deaf, half blind, and has unspecified apnea (among other things).

Up Vote Up Vote ×

Has anyone cared for a child with ROHHAD? I used to follow this little girl with it on a SN site but her family went offline a couple of years ago. It's a fascinating and scary syndrome.

Up Vote Up Vote ×
Specializes in Pediatric Private Duty; Camp Nursing.
Has anyone cared for a child with ROHHAD? I used to follow this little girl with it on a SN site but her family went offline a couple of years ago. It's a fascinating and scary syndrome.

Do tell!!!

Up Vote Up Vote ×
Specializes in NICU, ICU, PICU, Academia.

I left out SMA Type I (a set of siblings AND a set of identical twins)

Up Vote Up Vote ×
+ Join the Discussion