Say What?! - Pediatric Hirsutism and Stress!

Hi y'all!  Can you all feel the stress radiating from me and hear my screams from Texas?  Just when my stress and anxiety levels start to taper down, something happens to send them skyrocketing again.  Seriously, can this kiddo have anything else?  It is like Ellie is the poster child for random, non major (thank goodness!) medical conditions that always leave health care providers stumped.  Why?!

*Please note that aside from Ellie's low thyroid, these medical conditions discussed in this blog are not related to Down syndrome.*

Hirsutism:

Yesterday was Ellie's neuropsychology appointment (more on that in a later post).  I brought to the nurse practitioner's attention abnormal hair growth - something that started a few months ago.  My thought was that it may be her Trileptal (mood stabilizer/antiseizure medication).  Yes, it isn't listed as a side effect, but. . . "it's Ellie".  This led to the other neuropsychologist evaluating her and saying it's odd followed by the Comprehensive Care doctor also saying it's odd.  All said - "I am not sure what the cause is.  This is atypical.  Perhaps it is the Trileptal, but that makes no sense.  However, this is Ellie".

Abnormal hair growth or hirsutism is not often seen in kids.  For Ellie, she has increased and darkening hair along her arms and legs as well as fine hair, also darkening along her spine. Some people refer to it as lanugo.  The Princess refused to cooperate for a picture so check out the one from a Dermatology journal below.  Often times, the hirsutism also occurs on the face along upper lip and occasionally the chin and side burn area.  Thankfully, we are not seeing that . . . yet. . . hopefully never.  The anxiety over facial hair makes me want to puke.  I don't want to shave my 9 year-old's face!  I don't know if it is transient and will eventually fall out or if it will be permanent.  Cue: Mama Bear crying, screaming, and having a heart rate of 180.

Photo Credit: Our Dermatology Online Journal

Hirsutism is most common among woman who have polycystic ovarian disease.  Ellie is too young for that and there is no family history.  Four, yes, I said FOUR, healthcare providers (including endocrine from a few months ago) and myself have concluded she is not in puberty.  Plus, the distribution of hair would be more along the lines of the usual puberty patterns - think legs, underarms, and genital region.

Other causes include long-term use of steroids such as prednisone and Cushing's Syndrome.  All of these increase one's cortisol levels.  Cushing's Disease, which can develop suddenly, is rare in children and is often the result of an adrenal gland, which sits above the kidneys, tumor which also causes increased cortisol levels.  

Testing for Cushing's Disease is a pain in the butt and not all that accurate.  One test involves analyzing cortisol levels via blood draw in the morning and at midnight.  Oh yes, midnight.  What lab is open at midnight?  A 24 hour urine collection.  Yep, you read that right - you are basically going to deliver a gallon of pee to the lab.  Also a dexamethasone-suppression test, which I don't completely understand.

Symptoms include:

-moon face/round face

-truncal obesity: excess fat along the back, abdomen

-high blood pressure

-high blood sugar

-striae/purple lines 

-hirsutism 

-absent menstrual cycle

-males: increased breast tissue

-poor wound healing

All of us have concluded that Cushing's Disease is very unlikely since her only signs are the hair growth and the high blood pressure.  The high blood pressure is also atypical in that it is in her left arm only and she has high renin levels (produced in kidney).  Ellie has her follow up with the nephrologist this afternoon so I plan to talk to him about it.

As it stands, the Comprehensive Care doctor is going to do an extensive literature review as well as consult with endocrine.  I for one would Like to have for harmonium levels drawn especially testosterone. 

Not-So-Fun Fact: hair along the spine is is slightly more common in Down syndrome than in the general population, BUT not even close to people Ellie's age.

I hope to get in a blog post soon on Ellie's strabismus surgery from the end of January as well as a psych update.  In other news, I managed to re-pinch a nerve in my neck which is causing left-side neck, head, should, and the upper back of the arm pain.  It isn't intolerable, but the headaches and shoulder get pretty bad and I can barely turn my neck to the left.  So, hello PT twice a week because I totally have all the time in the world for that.  

Thank you everyone who offered up prayers, good vibes, positive thoughts, etc after my last blog post.  I would very much appreciate if you would continue to think of Ellie Bear.

Hypertension In a Child

In previous blog posts I have written about Ellie's high blood pressure.  I have an update er, well updates.

According to the new pediatric guidelines, for Ellie's age, height %tile, and gender, her systolic blood pressure [top # of BP] should fall around 111 mmHg.  Ellie's average without blood pressure medication is 124 in the LEFT arm only and normal in the right arm.

High blood pressure in a child is usually due to cardiac issues such as narrowing of the aorta (a large artery that branches off the heart) or renal [kidney] issues.  However, with the increasing rates of childhood obesity, doctors are seeing more and more hypertension related to weight, similar to adults.

Flashback: October is Down Syndrome Awareness Month

In August, we were able to rule out all cardiac issues so that is not the cause of her hypertension.  We are currently evaluating her kidney function.  Many doctors start off with a basic metabolic panel that looks at things such as glucose, sodium, potassium, etc, but the main values that a physician looks at from that lab study is BUN and Creatinine.  I won't get into what those things are for, but high levels of BUN and Creatine can be a sign of impaired kidney function.  Ellie's were normal.  Other, more in-depth testing include assessing Renin, Aldosterone, and Angiotensin - again, I will spare you the details of their function.  Ellie's Renin levels are high.  Renin is an enzyme that is secreted by the kidney that helps regulate blood pressure. One of the causes of high renin levels is renal artery stenosis, which is is the narrowing of the artery that supplies blood flow to one or both of the kidneys.  This is something that is very rare with systolic BP usually above 170 mmHG and it is highly unlikely that Ellie has this . . . BUT, as the nephrologist said "this is Ellie".  Plus, she has been on clonidine for years and she is also on a calcium channel blocker BP med so we don't really know how high it would be without these medications. At this point, we are working on scheduling a CT with contrast (angiogram) or her kidneys, but it is not considered urgent.

Flashback: October is Down Syndrome Awareness Month

Hypertension in a child is typically diagnosed when the systolic reading is 10 mmHG above the 95% tile for age, height, and gender.  First line treatment for high blood pressure in a child is a calcium channel blocker - i.e. amlodipine. (Calcium Channel blockers tend to end in "ipine.)  A few months ago we started Ellie on Norvasc.  We some mild improvement in her blood pressure.  The nephrologist says that kids typically end up on higher doses than adults due to their higher metabolic rates so he bumped up her dose.

I don't know what happened and I don't understand it.  I measure Ellie's blood pressure with an automated cuff. This is the same cuff that I have been using for months.  After we increased her Norvasc, I noticed that her systolic readings were back into the mid-120s.  A few weekends ago, I took her BP and it was in the 130s.  I waited a few hours and she was 140 mmHg.  I didn't believe it.  I switched out the cuff to an adult one and took mine.  The I compared it to my Qardio cuff that I use with an app.  Both of mine were the same.  So . . . Ellie's reading was accurate.  I waited an hour and she was 147 mm HG.  Note that she had both clonidine and the higher dosage of Norvasc in her system.  A BP that high in a child is dangerous.  I had to call nephrologist on-call who told me to immediately give her clonidine (it is pretty fast acting) and that if it was still in the 140s in a few hours, she'd have to receive IV anti-hypertensives in the hospital.  It was odd.  I don't know why this happened, but the clonidine did work.

Uh huh . . . how long do you think she'll keep that on?  The eye patch is over her good eye.  The thought is the eye that turns in will correct itself.  We've tried glasses and then keeping her good eye dilated with no change (okay, she refused the glasses).  So this is our last ditch effort.

A few days later, the nephrologist upped her dosage of Norvasc again and it seems to be working.  Her BP has been averaging 110/60 so we are pretty happy with that.  Her renal CT scan with contrast still isn't scheduled as we are trying to do it the same day as her ABR and cecostomy tube replacement.  I hate waiting, but I only want to put her under sedation once.

The blood pressure machine that I use for Ellie is by Contec.  It is no longer sold on Amazon, but eBay has it and a few online medical supply sell it.  I have tried several automatic and manual cuffs, but this machine is the ONLY one that has a TRUE pediatric BP cuff.  Most the ones marketed as pedi are actually infant cuffs.  A blood pressure cuff isn't just about length to wrap around the arm.  It is about width.  It is supposed to cover a specific portion on the upper arm.  If the cuff isn't wide enough, the pressure will read higher.  If the cuff is too wide, the pressure may read lower.

Contact 08A Blood Pressure Monitor - pediatric/child cuff sold separately

photo: uptodate.com

Some cuffs are labeled with #s.  i.e. a child cuff may be labeled as size 9 so it is good to read the measurements.

While the Norvasc is working, it comes with an unfortunate side effect.  For Ellie, it is significantly making her constipation worse (it may cause the opposite problem in some people).  She used to get 250 mL of saline enemas through her cecostomy every other day.  She is now getting 250 mL SMOG enemas [saline, mineral oil, and glycerin] through her tube 2-3 x week - the max we can do and then 2 rectal ones a week - also the max.  It is frustrating because she is still only having a bowel movement every 5-7 days.  Seriously?!?!  She has a freaking tube in her colon for this stuff!  Unfortunately, it is something that Ellie will have to suffer through because I really don't want to her to be at risk for a stroke from a really really really high blood pressure.  If it gets to where is going more than a week, then we will have to figure something out because colitis and bowel perforation would suck.

Anyway, that is the big blood pressure update.  My next post on The Chronicles of Ellie Bellie Bear will be fun!  Horse therapy with Jack?  Yes!  Seeing the dolphins at Sea World?  Yes!  Reuniting with friends from The Wish Connection and seeing a Tim St. John, the magician?  Absolutely!  What about Morgan's Wonderland, an amusement park designed for children and adults of ALL abilities?  What fun!

Fun Photo Flashback: