Presentation
Seizures.
Patient Data
Asymmetric overgrowth of the left frontal bone which shows bony expansion with fatty marrow signal.
Left high frontal polymicrogyria is noted (on the same side of the bony expansion).
Few small cysts are adjacent to the genu of the corpus callosum.
N.B:
mild asymmetric enlargement of the left eye globe with retinal detachment
left mastoiditis
The first photo illustrates the right hand which shows large linear epidermal naevi on the dorsum of the hand. It also shows asymmetric enlargement of the thumb, index and middle fingers (macrodystrophia lipomatosis). A small connective tissue naevus is just adjacent to the thumb.
The second image demonstrates the left hand which shows asymmetric enlargement of the index and middle fingers.
The third image shows the palmar aspects of both hands with characteristic connective tissue naevi on the palmar thenar aspect of the right hand.
The fourth image shows the most important and specific feature of Proteus syndrome which is the cerebriform connective tissue naevus on the plantar aspect of the right foot.
The fifth image demonstrates the left foot smaller cerebriform connective tissue naevi and little toe bluish discoloration (likely venous vascular malformation).
Topogram shows extensive whole spine scoliosis and asymmetric enlargement of the right lower limb with bowing deformity of both legs.
CT scan of the brain bone window shows asymmetric bony thickening and expansion of the left frontal bone which shows the same as normal osseous density. Soft tissue window shows asymmetric enlargement of the left palatine tonsil and prominent venous vessels in the neck, likely venous vascular malformation.
CT scan of the chest, abdomen and pelvis shows extensive scoliosis of the whole sine secondary to multifocal asymmetric vertebral body overgrowth. Fatty infiltration of the paravertebral muscles.
CT scan of both lower limbs shows asymmetric bony and soft tissue overgrowth of the right lower limb with evident cerebriform connective tissue naevi on the foot.
Case Discussion
The case illustrates typical clinical and radiological features of Proteus syndrome.
The presence of cerebriform connective tissue naevi on the palmar aspect of the feet which is pathognomonic and one of the most important major criteria for this disease. Also, the presence of other cutaneous manifestations such as linear epidermal naevi on the dorsum of the hand. Scoliosis and the asymmetrical overgrowth of the right lower limb and fingers are also considered minor criteria for this disease.
Radiological features are also characteristic of this disease. The presence of asymmetric skull overgrowth shows a fatty marrow signal which differentiates it from fibrous dysplasia. Also, the cerebral hemisphere underlying the skull overgrowth shows migrational disorder (polymicrogyria) which is a very common association.
Here, the skull thickening should also be differentiated from Dyke-Davidoff-Masson syndrome in which the underlying cerebral changes include atrophy and encephalomalacia, while in Proteus syndrome the cerebral hemisphere changes include hemimegalencephaly and brain migrational disorder (as seen in our case).
There's also asymmetrical enlargement of the left palatine tonsil.
Proteus syndrome occurs secondary to mutation of the AKT1 gene which leads to asymmetrical overgrowth of almost any part of the body. It's one of the overgrowth syndromes.
Proteus syndrome is an extremely rare disease with an incidence of less than one per million live births.
The first case was described in the 19th century by Sir Treves who described Joseph Merrick, the so-called “Elephant male” who was originally thought to have neurofibromatosis, yet recently it is believed he actually suffered from Proteus syndrome.
The disease was first described in the1980 British-American drama film (The Elephant Man).
Unable to process the form. Check for errors and try again.