proteus syndrome ( ps ) ( omim # 176920 ) is a rare overgrowth syndrome characterized by segmental overgrowth of multiple tissues and organs including vascular malformations , lipomas , hyperpigmentation , and various types of nevi . ps was originally described by cohen and hayden ( 1979 ) as a newly recognized disorder characterized by overgrowth of multiple tissues , connective tissue nevi , epidermal nevi , and hyperostoses . about 200 cases of ps have been reported in literature with the incidence of < 1 in 1 million people worldwide . the exact cause , pathogenesis and embryologic origin of ps still remains a subject of discussion . a 7 year old boy presented to us with complaints of seizures and overgrowth of the right half of the body . parents noticed progressive overgrowth ofright foot from 3 to 4 months of age along with overgrowth of plantar surfaces . few months later , overgrowth of the right half of face and gluteal region was also appreciated . the patient developed unprovoked seizures at 1 month of age , initially left - sided hemiseizures , later on , became generalized and was started on antiepileptic drugs at the onset . examination of head and face revealed dolichocephaly , frontal bossing , hypertrophy of right half of face including cheek and tongue , hyperpigmented lesions over the right cheek , and right side of neck suggestive of nevus [ figures 1 and 2 ] . on examination of feet , there was macrodactyly of great , second , and third toe with splaying [ figure 3a ] ; and hypertrophy of plantar surfaces with increased rugosity [ figure 3b ] . facial hypertrophy on right side epidermal nevus over right side of neck ( a ) macrodactyly of both feet . ( b ) increased plantar rugosities investigations showed blood counts , renal and liver function tests within normal limits . magnetic resonance imaging brain showed right hemimegalencephaly with dysplasia with white matter abnormalities [ figure 4a and b ] . our case was suspected to have ps based on characteristic facial features , skin abnormalities , dysmorphic growth , and overgrowth pattern . the characteristic features of ps include hemihypertrophy ; generalized , unilateral , or localized disproportionate overgrowth of any tissue ; distinctive facial features ( macrocephaly , dolichocephaly , long face , downslanting palpebral fissures , and low nasal bridge ) ; various capillary , venous and lymphatic malformations ; and deep vein thrombosis . less common findings include cns malformations such as hemimegalencephaly , cerebral arteriovenous malformations , abnormal gray - white matter differentiation , neuronal migration disorders , callosal dysgenesis , and hydrocephalus in brain radiology . intellectual disability and seizures may be the presenting features in these individuals and such individuals may have associated distinct facial features . in our case , epilepsy and hemimegalencephaly were noted . the exact incidence of this association with ps is not exactly known as there are very few cases where this association has been reported . diagnosis can be confirmed by molecular genetic studies which includes exome sequencing for activating missense mutation in the akt1 gene . as mutations occur during early development , the disorder is not inherited and does not run in families . mutation in pten gene has also been reported in some case reports , but the association is not well established . in our case , genetic analysis was offered to the family but could not be performed as genetic testing is not currently available at our center and parents could not afford the investigation due to its high cost . management includes multidisciplinary treatment approach involving geneticist , neurologist , orthopedician , and dermatologist along with family support . the child is under regular follow - up for ensuring drug compliance and for monitoring of growth and secondary complications . ps has various systemic abnormalities , a detailed and thorough clinical examination is essential in every child suspicious of ps . in view of our case study , we value the importance of adopting multidisciplinary approach for early detection of functional disorders with special emphasis on neurological manifestations associated with this disorder and to minimize disabilities , reduce morbidity , and mortality associated with ps . we hope our case findings increase treating physician's / pediatrician 's attention toward the possibility of diagnosing this association in ps patients . the authors certify that they have obtained all appropriate patient consent forms . in the form the patient(s ) has / have given his / her / their consent for his / her / their images and other clinical information to be reported in the journal . the patients understand that their names and initials will not be published and due efforts will be made to conceal their identity , but anonymity can not be guaranteed . the authors certify that they have obtained all appropriate patient consent forms . in the form the patient(s ) has / have given his / her / their consent for his / her / their images and other clinical information to be reported in the journal . the patients understand that their names and initials will not be published and due efforts will be made to conceal their identity , but anonymity can not be guaranteed .
proteus syndrome ( ps ) is an extremely rare and complex disorder . 
 approximately 200 cases have been reported , and it seems to affect people of all ethnic and racial groups . 
 ps is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations , lipomatous overgrowth , hyperpigmentation , and various types of nevi . 
 we hereby present a 7-year - old boy who presented with seizures and overgrowth of one - half of the body . 
 although classical physical features have been described , epilepsy and other neurological manifestations are rarely reported features of ps . 
 early detection of association of epilepsy and hemimegalencephaly with ps can prevent / minimize the neurological complications , disability , morbidity , and mortality .