Case No. :	19
Month :	July
Year :	2000
Contributor :	Dr. Pallavi Jadhav

Clinical Findings | Radiological Findings | Discussion

Clinical Findings:

A 24 year old man, known case of epilepsy on treatment for the past five years, was subjected to a CT of the brain for a recent change in the pattern of fits. On examination, his |CNS was normal. However, facial papular nevus, adenoma sebaceum, shagreens patch on his lower back with hypopigmented macules were present on his back since birth. (Figs 1,2,3,)

Fig.1	Fig.2
Fig.3	Fig.4
Fig.5	Fig.6
Fig.7	Fig.8
Fig.9	Fig.10
Fig.11	Fig.12

 

Radiological Findings :

CT Brain Plain and Contrast, showed subependymal calcified lesions seen along walls of lateral ventricles suggestive of subependymal nodules. Well circumscribed, nonenhancing hypodensity seen in the cortical and subcortical parasagittal regions suggested presence of cortical tubers. Calcification within posterior fossa representing intracranial hamartoma in right cerebellar hemisphere was also seen. (Figs 4,5,6,7,8) Asymmetry of the calvarium and facial bones resulting from marked thickening of right frontal, parietal and sphenoid bones.(Fig 9). Thickening of the ipsilateral mandibular ramus and body was also seen. 3D reconstructions of the skin showed a remarkable appearance (Figs. 10,11)

Plain Radiograph Skull AP (Fig. 12) and Lateral, showed uniform increased density with ground glass appearance of the frontal, parietal and sphenoid bones with ipsilateral mandibular involvement hemifacial bone involvement is suggestive of fibrous dysplasia, rather than hyperostosis of tuberous sclerosis.

Discussion :

Tuberous sclerosis (TS) and Fibrous dysplasia (FD) share certain common characteristics. Although they are grouped with the neuroectodermal and mesodermal dysplasia, all three germ layers may be involved in the development of each of these entities .Moreover both have been associated with classical clinical triads which serve as aids in their identification. Although mutations do occur, a majority of these cases have been considered to be hereditary or familial. There has been only one other case of associated Tuberous sclerosis and Fibrous Dysplasia reported.

Tuberous Sclerosis.

Syn. Bourneville's Disease

Diagnostic Criteria of National Tuberous Sclerosis Association.

Primary Features
Facial angiofibromas
Cortical Tubers
Subependymal nodule or giant cell astrocytoma
Multiple calcified subependymal nodules protruding into ventricle
Multiple ungual fibromas
Multiple retinal astrocytomas

Secondary Features
Affected first degree relative
Retinal Hematoma
Cerebral tubers
Shagreens patch
Renal cysts
Cardiac rhabdomyoma
Achromic patch
Noncalcified subependymal tubers
Pulmonary lymphangiomyomatosis
Renal angiomyolipoma

Tertiary Features
Hypomelanotic macules
Hamartomatous rectal polyps
Bone cysts
Gingival Fibromas
Confetti skin lesions
Disturbed enamel pits
Cerebral heterotopia Infantile spasms
Other organ hamartomas

Diagnosis is made with the following combinations
1 Primary Feature +2 Secondary Features
1 Secondary Feature + 2 Tertiary Features

Probable Diagnosis made with following combination
1 Secondary Feature + 1 Tertiary Feature
3 Tertiary Features

Suspect Diagnosis is made with
1 Secondary Feature
2 Tertiary Features

Fibrous Dysplasia

Syn Osteitis Fibrosa Disseminata
Lichtenstein Jaffe Disease

Definition : Idiopathic Skeletal Disorder in which medullary. Bone is replaced and distorted by poorly organised structurally unsound fibroosseous tissue composed of woven type bone with few osteoclasts.

Mechanism : Developmental defect, malformation of bone forming mesenchyme , defective proliferation and maturation of fibroblasts, normal medullary space of bone replaced by fibroosseous tissue.

Gene Familial cases have been reported.

50% onset in childhood.
7% benign tumours.
Monostotic 70-80% and Polyostotic 20-30%.
Polyostotic more frequently involves skull , facial bones , pelvis , spine and shoulder girdle.
Multiple lesions , may be unilateral , Pseudofractures .
Malignant transformation in 0.5% cases.
May be related to prior irradiation of bone.
Average time of diagnosis of Fibrous Dysplasia until appearance of sarcoma is 13.5 years.
Disease stops or slows after skeletal growth ceases.
Extensive involvement of facial bones , resulting deformity has been referred to as 'lion face' or "Leontiasis Ossea".
25% involve skull.
Rarely degenerates into osteosarcoma , chondrosarcoma , or fibrosarcoma (1%).
Rib is most comman location.
Get larger during pregnancy.
Skeletal lesions commanly appear before puberty.
Pigmented macules or Café-au-lait spots, isolated or linear/segmental along midline of the body ,irregular contour i.e Coast of Maine appearance, differentiated from neurofibromatosis using histochemical dopa reactions.

Deformities- coxa vara, shepherd's crook, extrapleural sign in the rib, pelvis shows protrusio acetabulae.

Complications- Malignancy, fractures, deformities.

Treatment - Surgery to correct deformities, relieve pain , correct functional problems , or resect sarcomatous tissue.