Sturge-Weber Syndrome: What is it?

Sturge-Weber syndrome

Also known as:
Dimitri’s hemangiomatosis syndrome
Jahnke’s syndrome (variant without glaucoma)
Kalischer’s syndrome
Krabbe’s syndrome II
Lawford’s syndrome
Lawford’s meningocutaneous syndrome
Miller’s syndrome
Parkes Weber-Dimitri syndrome
Schirmer’s syndrome
Sturge’s syndrome
Sturge-Kalischer-Weber syndrome
Sturge-Parkes Weber-Dimitri syndrome
Sturge-Weber-Krabbe syndrome
Sturge-Weber-Thoma syndrome
Weber’s syndrome
Weber-Dimitri syndrome

Is: A congenital disorder involving the brain, skin and eyes. It is characterized by portwine nevi on upper part of the scalp along the distribution of the trigeminal nerve, as well as other vascular abnormalities both intracranially and in other parts of the body. Accumulations of abnormal blood vessels (angiomas) occur in the meninges of the cerebral cortex, usually on one side of the brain. Also choroid, intracranial calcifications, mental retardation, epileptic seizures, and glaucoma. Both sexes affected; present from birth. Inheritance, if any, is uncertain.

Recently one of my nephews called and was in tears.
His 5 year old daughter was diagnosed with this Syndrome. He was so upset and he and his wife were
trying to find out what ever they could about it.

So of course I decided to look into this. According to the Web Sites that explore this subject: William Allen Sturge first described the syndrome in 1879 in a child aged 6 and a half years. Siegfried Kalischer in 1901, and Lannois-Bernoud in 1898 gave further descriptions. Parkes Weber in 1922 demonstrated the intracranial calcifications, Vincente Dimitri in 1923, and Krabbe in 1934 each contributed to the knowledge of the complete syndrome.
http://www.whonamedit.com/synd.cfm/1764.html

Sarah is lucky. She will add to the vast amount of information on this Syndrome. I guess when the cells begin to fall off after she was conceived they attached to the back of her brain instead of the front. This has kept her from having the bad seizures that are normally known to occur in children from 1-6 with this illness.

She exhibits other aspects like one side of her head has blonde hair and the other side of her head is a bit darker. She is smart and vibrant. She loves to talk.

She was diagnosed after an ear exam. Her birth mark as they thought she had on her face. Was also present in her ear and with further tests it was found to be webbed on the inside of the back of her brain.

The cells that fall off after conception webbed together and remained attached inside of her body.
In this case the back of the brain. It is more common on the front of the brain and side of the brain. In which case the children suffer seizers and brain damage which results in mental retardation.

For the moment the Doctors will be watching Sarah more closely. They will also be learning from her individual case file. She seems very normal and as her family we earnestly pray that she keeps doing well and does not exhibit more issues with age.

This is just another illness that children face along the pathway of life. Anyone out there with a child suffering from this illness. Your comments are so welcome. We are just now learning more about the treatments to sooth symptoms. Please feel free to share your child’s experience in the comment section. It may help another family out there facing the same issues.

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