 |
|
 |
|
|
|
December 2004
By Brian R. Irwin, DO
|
|
|
CASE:
A four-month-old girl presents to your practice for evaluation
of new-onset seizures. She has no known medical problems,
nor any recent history of fever or other possible symptoms
of illness, and is up to date with immunizations. She was
born to a healthy mother who drank no alcohol and experienced
no perinatal complications, and she has met all developmental
milestones to date. Her family history is noncontributory.
Physical exam reveals a sizable facial hemangioma. The neurologic
exam is normal, as are her heart, abdomen, and oral mucosa.
A computed tomography (CT) scan of the head and X-rays of
the skull are unremarkable.
WHAT IS YOUR DIAGNOSIS?
|
| |
| |
|
|
|
This patient has Sturge-Weber syndrome. She has the classic
"port wine stain" (although it does look much like a hemangioma),
which is usually located over the distribution of the first
branch of the trigeminal nerve. She underwent an extensive workup
for her seizures, which continued for many months. A repeat
CT scan revealed intracranial calcifications. These calcifications,
which line the skull lumen along the cerebral gyri, appear in
a "train track" pattern and may not be present until a child's
second or third year. Seizures occur in most patients; mental
retardation is seen in roughly 60%. Patients who are refractory
to anticonvulsant medication may benefit somewhat from surgical
removal of skull calcifications. Other common manifestations
of Sturge-Weber, which were absent in this patient, include
infantile glaucoma, mucosal telangiectasias, and aortic abnormalities. |
|
Dr. Irwin is a physician in private practice
at Saco River Medical Group in Conway, New Hampshire.
Emerg Med 36(12):35-36, 2004
|
|
|
