A Rare Congenital Malformation, Made Even Rarer

choi

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My comment: The day the Boston Globe report (see (2)) was published, I read it (I read it irregularly) but was unsure of its medical significance. Today I read the news release (see (1)) from the hospital (one of the many teaching hospital affiliated with Harvard Medical School), with a discerning eye I understand there is not much medical significance (and thus will not be reported in a medical journal). Still, it is interesting. The newspaper reporter did conduct his own research (talking to the parents in depth, etc; as opposed to regurgitaing the feed from the hospital's PR staff).

(1) Tripp Underwood, Our patients’ stories: Dominic’s craniofacial surgery. Children's Hospital Boston, Jan 28, 2013.
http://childrenshospitalblog.org ... aniofacial-surgery/

(a) Quote:

(i) "During a routine 20-week ultrasound in their home state of Wisconsin, Dominic’s parents, Mark and Mary, were excited to find out if they were having a boy or girl. But when doctors looked at Mary’s grainy ultrasound they discovered more than Dominic’s sex. Though it was hard to tell for sure, the ultrasound image showed that Dominic’s skull hadn’t fused together properly early in the pregnancy, leaving a large, triangle-shaped gap running from his upper lip through the middle of his nose and forehead—a condition known in the medical world as a Tessier midline facial cleft.

"But the cleft wasn’t the only issue Dominic was facing: some fluid and tissue from his brain, normally encased in the skull, had seeped outwards through the cleft, forming a golf ball-sized bubble underneath the skin of his forehead. (A condition called an encephalocele.)  

"The combination of Tessier cleft and an encephalocele is very rare, especially in the United States. As few as one child every two to five years may be born with both conditions, and most craniofacial surgeons will go their entire careers without ever seeing it outside of medical textbooks. As a result, the Gundrums’ medical team wasn’t sure what the future held for Dominic.

(ii) "Treating Dominic’s encephalocele would require a number of specialists with a wide range of expertise. First, Mark Proctor, MD, director of Boston Children’s Brain Injury Center, would need to carefully remove the brain tissue and fluid that had pooled inside Dominic’s encephalocele. Once Proctor had finished, Meara would perform extensive reconstruction of Dominic’s face, repairing the cleft and aligning the previously disconnected sections of skull while making sure his features were symmetrical.

(b) My comment:
(i) There is no need to read the rest of the press release. But do view photos, as well as click the tag "John Meara, MD, DMD, MBA, plastic surgeon-in-chief." It is unusual for an MD (acronym for the degree of "medical doctor," obtained after completing the four-year medical school education) to have, in addition, DMD, MBA or PhD--because medical students want to start their careers quickly, most often feeling compelled to repay huge debt incurred by the medical education.
(ii) Through the link, one may, in the tags at the top horizontal bar, read "education" at the web page of Dr John Meara.
(iii) DMD stands for "dental medicine doctor" which is equivant to DDS (doctor of dental surgery), either of which is awarded by a dental school. Most dental school (which takes four years to complete) in US award DDS, but a few--such as Harvard Dental School--award DMD. Just different names for the same degree.
(iv) The press release failed to mention why Dominic stayed at ICU (for intensive care unit) for three weeks. The newspaper report pointed out post-operation infection, which would smudge the hospital reputation (because theoretically it, the infection, should not have happened.
(v) facial cleft
http://en.wikipedia.org/wiki/Facial_cleft
(section 2.1 Tessier classification)
* Paul Tessier
http://en.wikipedia.org/wiki/Paul_Tessier
(1917-2008; a French surgeon; considered the father of modern craniofacial surgery)
* The French surname Tessier denotes "a weaver, Old French tissier (Late Latin texarius, a derivative of texere ‘to weave’)."
(vi) encephalocele
http://en.wikipedia.org/wiki/Encephalocele
* Only read the introduction and view the photo; then click the first link to NINDS (for US National Institute of Nurological Disorders and Stroke) for "Is there a treatment?").
* eymology of encephalocele: Gk enkephalos brain + koilia, cavity
(vii) The Boston Globe reported that there was no brain tissue (only fluid, whose medical term is cerebrospinal fluid (CSF)) in Dominic's encephalocele (which was the mass, covered with skin and protruding through the Tessier midline facial cleft). Yes, there is a discrepancy here.  


(2) Bella English, With Resolve on All Sides, a Life Made Whole; Family’s agonizing trail leads to infant’s surgery. Boston Globe, Jan 29, 2013 (front page).
http://www.bostonglobe.com/metro ... KdPMBfhN/story.html

Note:
(a) Bella
http://en.wikipedia.org/wiki/Bella
(Bella is a female name. It is a diminutive form of names ending in -bella, such as Isabella and Annabella. "Bella" is related to the Italian and Latin words for beautiful)

* The Italian noun (singular feminine) bella is "belle" in Englsh (meaning a beautiful woman). Also the Italian adjective bello (whose feminine form is "bella" means beautiful.
(b) Dominic
http://en.wikipedia.org/wiki/Dominic
(c) The male given name Pio found in Italy, Spain and Portugal (whose female counterpart is "Pia") is from Latin "pius" (meaning pious).