Tuesday, October 11, 2016

A Child Brought For Evaluation Of Seizure Disorder- A Distinct Birth Mark Seen On Face

This female child was brought to the pediatrician for the evaluation of seizure disorder. On examination , a vascular plaque was found along the ophthalmic and maxillary divisions of the trigeminal nerve. (as shown in picture ) . Mother is not concerned about the lesion mentioning it has been present since birth and since then there has been no change in morphology, neither it has caused any pain to the child, other than the cosmetic defect.

The most likely possibility is:

A. Infantile hemangioma
B. Struge Weber syndrome.
C. Congenital Hemangioma
D. Proteus syndrome.

Answer An d Discussion:

B. Struge Weber syndrome.

Case Discussion:
Struge Weber syndrome. 

A rare disorder present at birth commonly associated with a port wine stain birthmark usually on the face and other nervous system problems.

Clinical Features: Signs and symptoms include:

  • A port wine stain usually manifested at birth , which may be present on the forehead and upper part of the face on one or both sides. The color may vary from light pink to deep purple.
  • Seizures that may start in infancy and increase with age. 
  • Muscle weakness on the side opposite the birth mark. 
  • Some children may have developmental delays. 
  • About 50 % of patients may develop glucoma. 
Diagnosis: Ct scan and MRI are useful in identifying the underlying abnormalities. A child born with a facial cutaneous vascualr malformation should have an imaging to screen for intracranial leptomeningeal angimatosis. the hemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region. 

Management: The treatment depends on the severity and type of symptoms the child may be experiencing. These include:

1. Anticonvulsant medications for controlling seizures.\
2. Eye drops or surgery to treat glucoma
3. Laser therapy for port wine stains
4. Physical therapy for paralysis or weakness
5. Brain surgery as needed. 


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