UNIVERSITY OPHTHALMOLOGY CONSULTANTS

 

CASE OF THE MONTH

CASE #18

 

 
SYNDROMES THAT MORE CLOSELY RESEMBLE THIS CASE

 
KLIPPEL-TRENAUNAY SYNDROME

  • Variant of Sturge-Weber syndrome
  • Cutaneous nevus flammeus
  • Hemagniomas, intracranial angiomas
  • No genetic basis
  • Thromboembolic events in up to 11% of cases
  • Lymphatic malformations

 

 PROTEUS SYNDROME

  • Complex hamartomatous disorder
  • Hemihypertrophy of limbs and bones
  • Cutaneous hypertrophy
  • No family history
  • Lymphangiomas and hemangiomas
  • Hydropcephalus, cerebral calcifications
  • Kyphoscoliosis

 

 

 FAMILIAL CEREBRAL CAVERNOUS  MALFORMATIONS

  • Cavernous angiomas of the brain
  • Epilepsy
  • Cerebral calcification
  • Focal neurologic deficit
  • Migraine
  • Cutaneous and retinal angiomas
  • Autosomal dominant
  • Terminal transverse mid-forearm defects
 

 
DIFFERENCES BETWEEN THIS CASE AND
 KLIPPEL-TRENAUNAY SYNDROME

  • No cutaneous manifestations
  • No hemihypertrophy of bones or soft tissue
  • No leptomeningeal hemangioma
  • No convulsions
  • No congenital glaucoma
  • No conjunctival telangiectasia




DIFFERENCES BETWEEN THIS CASE AND PROTEUS SYNDROME

  • Unlike our case, nonfamilial
  • No overgrowth of tissues or hemihypertrophy
  • No cerebral atrophy, calcifications or macrocephaly
  • No cutaneous/connective tissue manifestations
  • No epibulbar dermoids
  • No lipomas


 DIFFERENCES BETWEEN THIS CASE AND  FAMILIAL CEREBRAL CAVERNOUS  MALFORMATIONS

  • No epilepsy
  • No cerebral calcifications
  • No migraines
  • No retinal angiomas
  • No cutaneous angiomas

 

 

 

Conclusion
       
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