LUMBAR Syndrome

mortman · #1 09-20-2010, 07:37 PM

I previously wrote of my little boy having a segmental Hemangioma on his left leg. Our little boy is now 6m old. After 2 MRI's and an ultrasound we found out a bunch!!

He has a syndrome called LUMBAR. (per dr in Minneapolis MN) He has a single kidney, an extra tube coming off the bladder, bifid scrotum, segmental hemangioma covering his leg and spots on his genitals, a hemangioma inside his rectum, a tethered spinal cord, an opening to his spinal cord (spina bifida), and a larger than normal colon.

We have found little on this syndrome. Our derm has said it is VERY uncommon. We begin with bladder surgery next month and then surgery on the spinal cord will follow.

Does anyone else have any info on this or has anyone else dealt with this??

tlampley3 · #2 09-20-2010, 09:18 PM

I don't have any experience with this, I just wanted to offer some encouragement and tell you to hang in there! I'm sure your family has been through a lot at this point. I will keep you in my prayers! As for the syndrome, does LUMBAR syndrome only refer to his tethered spinal cord and opening, or does it include everything you listed? I tried looking it up and couldn't find much either. Everything seemed to refer to the lumbar region of the back. Keep us posted!

mortman · #3 09-20-2010, 09:49 PM

Thanks

It includes all the symptoms listed. Also I forgot to mention his tail bone is thinner than normal.

The acronym "LUMBAR" is used to describe the association of Lower body hemangioma and other cutaneous defects, Urogenital anomalies, Ulceration, Myelopathy, Bony deformities, Anorectal malformations, Arterial anomalies, and Renal anomalies. There are many similarities between LUMBAR and PHACE syndrome, which might be considered regional variations of the same.

We are keeping a positive outlook...the Dr said most of this is can be corrected. We remind ourselves it could be worse. Last year we lost our 3.5m old baby girl to SIDS.

missy · #4 09-20-2010, 10:55 PM

Well, for pete's sake!

Have you had a chance to connect with Dr. Linda? She might know of some resources for you. You can use the Ask the Founder form at

http://birthmark.org/experts.php

Keep us updated... I mean, I know you have a lot on your plate, but we'll be glad to lend our ears (and shoulders) when needed.

Missy

tlampley3 · #5 09-21-2010, 02:21 AM

I'm so sorry to hear about your daughter. It sounds like you have had a tough road, but I'm glad you are doing your best to keep a positive outlook and it is great news that the doctors think they can correct a lot of problems for your sweet son. Please do keep us updated when you get the chance. Best of luck to you and your family.

nickbar · #6 09-21-2010, 03:44 AM

Linda Rozell Shannon has recommended contacting Dr. Fishman's team in Boston for advice. If you need help with contacting their nurse, please let me know. They review cases weekly as a team.

mortman · #7 09-23-2010, 09:25 PM

Thanks for the help

missy · #8 09-24-2010, 11:09 AM

Keep us in the loop. We'll need education on this!! Will you just have to deal with each symptom on its own?

Missy

mortman · #9 09-24-2010, 08:55 PM

It appears this LUMBAR syndrome could also be similar to PELVIS syndrome. There is a few more articles on this.

http://archderm.ama-assn.org/cgi/content/full/142/7/884

mortman · #10 09-30-2010, 06:34 PM

Missy,
They are treating each symptom on its own. We will visit the Urologist next week to have a consult for his bladder and scrotum. Once this surgery is complete we will move on to the tethered cord. After this surgery, and as long as there is no significant growth, the Dermatologist will spend more time examining the growths in his rectal area.