sturge - weber syndrome is a sporadic condition of mesodermal phakomatosis characterized by a portwine vascular nevus on the upper part of the face , leptomeningeal angiomatosis that involves one or both hemispheres , choroidal vascular lesions associated with glaucoma , seizures , neurologic deterioration , and eventual neurodevelopmental delay ( 1 ) .
klippel - trenaunay - weber syndrome , also a mesodermal phakomatosis , is defined by a triad of cutaneous and visceral hemangiomas , which can appear at any site of the body , venous varicosities , and soft tissue or bone hypertrophy ( 2 ) .
overlap between sturge - weber syndrome and klippel - trenaunay - weber syndrome is recognized ( 3 ) .
klippel - trenaunay - weber syndrome is a nonhereditary condition that shares clinical features with sturge - weber syndrome and over 40 cases of combined klippel - trenaunay - weber syndrome and sturge - weber syndrome have now been described ( 4 ) .
the hemangiomas consist of extensive nevus flammeus , while the melanocytic lesions may be aberrant mongolian spots , nevus of ota , and nevus of ito .
nevus of ota is a permanent , non - homogeneous bluish gray , black or brown lesion on the facial skin limited to the area innervated by the first and second divisions of the trigeminal nerve , with frequent association of the ipsilateral ocular pigmentation .
we experienced an unusual case of male infant with features of both sturge - weber syndrome and klippel - trenaunay - weber syndrome , who presented with nevus flammeus on the face , back and leg , leptomeningeal angiomatosis on right hemisphere , hypertrophy of the right leg , hemiconvulsion , congenital glaucoma and nevus of ota .
a 4-month - old male infant presented with nevus flammeus on the right leg and both part of the face and back , hypertrophy of the right leg and first attack of hemiconvulsion on the left .
a diagnosis of sturge - weber syndrome was made during neonatal period on the basis of portwine vascular nevus on the upper part of the face , leptomeningeal angiomatosis that involves right hemisphere , choroidal vascular lesions associated with glaucoma .
his physical examination showed nevus flammeus diffusely involving the both side of his face and extending to the both lower eyelids and cheeks .
there were bilateral oculodermal melanosis and an area of bluish gray pigmentation of the episclera ( fig .
1 ) . diffuse bluish discoloration or spots were present on the left side of his shoulder , arm , and wrist ( fig .
his right lower limb showed a relative soft tissue hypertrophy and nevus flammeus ( fig .
but the circumference of his right thigh was 25 cm and that of his left thigh was 21.5 cm .
the hematologic , biochemical , and urinary laboratory tests and the chest and skull radiographs were normal .
on cranial computed tomography scan , there was hyper - dense appearance secondary to meningeal venous angiomatous change on the right cerebral hemisphere ( fig .
4 ) . the patient was diagnosed to have sturge - weber syndrome in association with klippel - trenaunay - weber syndrome , according to the results of physical examination and radiologic evaluation .
his electroencephalography revealed low amplitude polyphasic spikes and waves activity , and voltage suppression in right hemisphere .
the frequency of seizure was reduced probably due to anticonvulsants , excegran , acetazolamide and corticosteroid . at the time of discharge his medical regime included excegran and acetazoleamide .
klippel - trenaunay - weber syndrome is present at birth and usually involves a lower extremity but may involve more than one and portions of trunk or face .
enlargement of the soft tissues may be gradual and may involve the entire extremity , a portion of it , or selected digits .
thick - walled venous varicosities typically become apparent ipsilateral to the vascular malformation after child begins to ambulate .
associated complication include dislocation of joint , congestive heart failure , cerebral arteriovenous malformations , spinal arteriovenous malformations , macrocephaly , microcephaly , thombophlebitis , hematuria , rectal bleeding and orbitofrontal varices ( 5 , 6 ) .
sturge - weber syndrome is a rare , sporadic disease with a potentially progressive course .
facial and leptomeningeal angioma are usually , but not necessarily , on the same side ( 7 ) .
about 70% of patients with epilepsy have their first seizure within the first year of life .
the initial seizures often involve the hemibody contralateral to the pial angioma and early seizures are triggered by fever in about one third of cases ( 8) . almost all the early seizures
the outcome after the first seizures is variable , but long term follow - up have shown that the seizure are often well controlled .
interictal eeg in sturge - weber syndrome shows focal and unilateral depression of the background activity over the area of leptomeningeal agiomatosis ( 9 , 10 ) .
focal epileptiform abnormalities are infrequent in infants , even in those with frequent seizures ( 10 ) .
the earlier the surgery with respect to seizure onset , the less the chance of increased neurologic deterioration ( 11 ) .
nevus of ota is more common in females and in asian and black patients , and differs from a mongolian spots , not only by its distribution but also by having a speckled rather than a uniform appearance .
four types of phakomatosis pigmentovascularis have been recognized , each of which are subgrouped further by the abscence ( type a ) or presence ( type b ) of systemic organ involvement .
in addition to nevus flammeus , type i has an epidermal nevus , type ii has blue spots with or without nevus anemicus , type iii has nevus spilus , with or without nevus anemicus , type iv has blue spots and nevus spilus with or without nevus anemicus .
our case can be classified as type iia , according to the classification of phakomatosis pigmentovascularis .
phakomatosis pigmentovascularis is a rare disorder characterized by the association of a nevus flammeus and melanocytic lesions .
phakomatosis pigmentovascularis was first described as association of cutaneous hemangioma and melanotic or epidermal nevi by ota in 1939 ( 12 ) .
abnormalities in the neural regulations of blood vessels may be important in the development of the vascular component of phakomatosis pigmentovascularis .
anomaly in the migration of the neural crest - derived melanocytes would result in nevus of ota , mongolian spots and nevus spilus .
there is double heterozygosity with the recessive vascular mutation on chromosome and the pigmentary mutation on the homologous chromosome . during embryogenesis ,
somatic recombination or crossing - over occurs between the homologous chromosomes , resulting in 2 different cell populations , each being homozygous for either allele .
associated clinical manifestation of the above - mentioned neurophacomatosis include scoliosis , renal angiomas , moyamoya disease , aplastic anemia , abdominal lymphangioma , chylothorax , deafness , chronic thyroiditis , pyogenic granuloma and mental retardation .
we present a 4-monthold baby boy who is considered as an interesting case of sturge - weber syndrome in association with klippel - trenaunay - weber syndrome and phakomatosis pigmentovascularis . to the best of our knowledge
, klippel - trenaunay - weber syndrome has been reported many times , and the only one case of sturge - weber syndrome in association with klippel - trenaunay - weber syndrome and phakomatosis pigmentovascularis has been reported in 13-yr - old girl ( 13 ) .
but the infantile case of the above - mentioned combined neurophacomatosis has not been reported . in infantile case
 sturge - weber syndrome can be associated with facial port - wine stains and intracranial calcification , and concurrent klippel - trenaunay - weber syndrome has been reported . 
 klippel - trenaunay - weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas , venous varicosities and soft tissue or bone hypertrophy of the affected extremities . 
 this report is presented a rare case of the sturge - weber syndrome in combination with the klippel - trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month - old infant . 
 he showed nevus flameus on the right leg and both part of the face and back , leptomeningeal angiomatosis on right hemisphere , hypertrophy of the right leg , hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of ota . 
 very rare case combined with these three kinds of phakomatosis has been reported . 
INTRODUCTION
CASE REPORT
DISCUSSION