question about my 3 year old boy

[cpohl]

HISTORY
-born at 32 weeks
-22q11 duplication syndrome
- motor and speech delay
- speech therapist said he doesn't make some sounds properly due to hypotonia or his larger tongue
-motor delay resolved except for poor balance, some shakiness, frequent falls, difficulty moving 1 leg
-hypotonia with tight hamstrings
-low IgG levels, unprotective response to Tetanus - possibly evolving humoral immunodeficiency, likely CVID
-frequent illness, mainly viral upper airway/ear infections
-chronic tongue pain with no apparent cause
-chronic urticaria
-mild asthma
-anaphylactic food allergies
-no apparent cognitive delays
->6 months concerns with episodic dyspnea with intercostal retractions, tachypnea, complaints of difficulty breathing, no cyanosis
-nocturnal oximetry has shown repeated brief desaturations down to 80% during healthy times (trying to obtain longer term recording oximeter for monitoring during unpredicatable respiratory episodes)
- a walk in pediatrician said he was in a semicomatose state (during a typical state we thought was a deep sleep) and sent by ambulance to emergency - emerg doctor said no concern
- MRI at 18 mths showed slight cortical volume loss, with subtle signal abnormality in peritrigonal deep white matter (T2 and FLAIR hyperintense)
- CT at 3 years without contrast was normal (following 3 weeks of waking headaches, very brief episodes of vision loss and right sided eye pain)

videos of the deep "sleep" state, etc: http://www.youtube.com/user/cpohlweary?feature=mhee

QUESTION:
-using the WHO growth curves:
- weight: birth under 3rd %ile, by age 1 between 3-15th %ile, by age 3 edging up to 50th %iles on a gradual curve
- length same path except closer to 15th than 50th %ile
- head circumference started slightly below 50th %ile, age 1-2.5 stayed midway between 50-85th %ile, and in the last year has risen to near the 97th %ile (currently 52.25 cm)

Is it normal for head growth to occur at this age, and to shift over %iles like this? Suggestions?

[cpohl]

Hi, thank you for your reply.

My son hasn't had an MRI since 18 mths. He's 3 1/2 now. He did have a CT without contrast in December due to recurring waking headaches. It was normal.

I noticed in photos that he seems like his head has grown larger leaving a slight dent above his eyebrowns that seem to hold a shadow in the photos. When he was younger his forehead altho frontal bossing, seemed rounded and these dents that cause shadows in the photos were not obvious.

Would you think that with a normal CT, an MRI would still be warranted?

Is it normal for frontal bossing to change shape over time from rounded to two somewhat distint lumps on each side of forehead, leaving slight dents above the eyes that show as shadows in photos?

thanks for your advice

[Christopher R Newey, DO]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

Head circumference is measured around the widest part of the skull. When it becomes enlarged, we call this macrocephaly. Causes are many and should be evaluated. They include metabolic causes such as Canavan’s, Hurler’s, and Alexander’s syndromes. Others include cerebrospinal fluid flow changes that can occur from obstruction or lack of resorption. These may be secondary to infections, trauma, congenital malformations, etc. Lastly, any disease that increases intracranial pressure can also cause head growth changes. These can include tumors, bleeds, etc. Overall, symptoms may include changes in mentation, irritability, vomiting, eye movement abnormalities, etc. You should have your son evaluated with some form of neuroimaging such as an MRI if not already done. Was this performed while he was admitted to the hospital?

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.