Open AccessKlippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis
Author(s) -
Monika Chhajed,
Sadbhavna Pandit,
Neeraj Dhawan,
Amit Jain
Publication year - 2010
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.76113
Subject(s) - medicine , sturge–weber syndrome , klippel trenaunay syndrome , atrophy , dermatology , anisometropia , trunk , calcification , pathology , anatomy , surgery , soft tissue , eye disease , ecology , refractive error , biology
Klippel-Trenaunay syndrome and Sturge-Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. Phakomatosis pigmentovascularis represents the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. We describe a case with features suggestive of overlap between them. A ten-month-old boy presented with seizures, developmental delay, skin lesions on face, trunk and legs, buphthalmos and right lower limb hypertrophy. CT scan of head showed atrophy of brain and calcification. Our case had overlap of Klippel-Trenaunay syndrome and Sturge-Weber syndrome with phakomatosis pigmentovascularis.