35 years old female, known case of mental retardation and seizure

 

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Doctor's Information

Name : Dr.M.S.Hemhnath
Family : Mohan Sujatha
Affiliation :DR.B.Karpagam,Assistant Professor,SRM medical college Hospital and Research Institute, Kattankulathu
Academic Degree : MD,radiodiagnosis-Resident
Email : This email address is being protected from spambots. You need JavaScript enabled to view it.
Resident : M.S.Hemhnath

 

Case Section

Head & Neck Imaging

 

Patient's Information

Gender : Female
Age : 35

 

Clinical Summary

A 35YRS old female patient came with chief complain of not able to move the right upper and lower limbs for the past three days. She is known case of mental retardation and H/O seizures since childhood. On clinical examination there was frontal bossing and pigmented lesion s/o cafe-au-lait spots were seen on the posterior chest wall was diagnozed clinically as tuberous sclerosis .

 

Imaging Findings

IMAGING Figure 1- Gradient axial MRI images showing multiple subependymal and cortical based blooming due to calcification of varying size .
Figure 2- Axial FLAIR image shows multiple areas of linear hyperintensity seen in juxta cortical regions of right fronto-parieto-temporal and left parieto-occiptal lobes due to tubers. And also hyperintense cortical lesions due to infarct seen.
Figure 3 - A well defined hyperintense lesion on FLAIR series involving the left fronto-parietal lobes due to MCA and ACA territory infarct.
Figure 4 - Infarct shows diffusion restricted signal involving the left fronto-parietal lobes .
Figure 5- A well defined extra axial mixed signal lesion on T2 with areas of flow void and mass effect over the left temporal lobe and optic nerve s/o aneurysm of ICA .
Figure 7 – MR angiogram showing thrombus of left internal carotid artery.

 

Differential Diagnosis

Similar cortical calcification by other causes as intrauterine CMV and Toxoplasmosis infection has to be differentiated. However they will be smaller in size and not subependymal in location and there will be brain atrophy and microcepahly. The calcification noted in hyperparathyroidism and Fahr’s disease are differentiated from Tuberous sclerosis, based upon the locations.

 

Final Diagnosis

Tuberous sclerosis with giant intracranial aneurysms involving the cavernous part of the left internal carotid artery with occlusion of left cervical and petrous parts of ICA causing ACA and MCA territory Infarct

 

Discussion (Related Text)

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by the formation of hamartomatous lesion in multiple organ system. It is the second most common neurocutaneous syndrome after neurofibromatosis type1 and has been recognized since the late 1800. Although the diseases has complete pentrance, there is also high phenotypic variability. Some patient have obvious sign at birth, while other remains undiagnosed for many years. In addition to skin lesion TSC patient develops numerous brain lesion, angiomyolipoma in kidney lymphangiomyomatosis in lung, cardiac rhabdomyosarcoma, skeletal lesion and vascular anomalies all of which are well seen in medical imaging. Tuberous sclerosis complex(TSC) is the second most common phakomatosis after neurofibromatosis. Tuberous sclerosis can affect both sex and all ethnic group, the estimated prevalence ranges from 1/6000 to 1/12000 (Baron etal;1999). About two third cases are sporadic (Narayanan;2003) diagnosis is usually established easily in early childhood, although atypical adult presentation have occasionally been reported in literature. Peripheral vascular stenosis and aneurysms have been reported with tuberous sclerosis due to dysplasias of small vessels, Only recently have intracranial aneurysm been recognized as lesion associated with tuberous sclerosis. We present a case of tuberous sclerosis of 35yrs old female patient with rare incidence of intracranial aneurysm involving the left ICA associated with thrombus occlusion causing ACA and MCA territorial Infarct. Tuberous sclerosis has a variable pentrances of mental retardation ,can be absent in upto 20% patient and such patient may easily escape the suspicious for tuberous sclerosis if other findings are not very prominent. The classic traid (vogt’s traid) of epilepsy, mental retardation and adenoma sebaceum is present in upto 40% patients. Because vogt’s traid may not be evident at clinical examination, radiologic examination plays an important role in diagnosis of TS. The diagnosis is usually established on combination of physical and radiological findings. Tuberous sclerosis has been mapped to two gentic foci TS1 & TS2, TSC1 is located on chromosome9 and encodes for the protein hamartin. TSC2 encodes for the protein tuber is located on chromosome16. TSC2 has been associated with more severe form of tuberous sclerosis than TSC1 (Dabora etal;2001). Vascular lesion (stenosis,ectasia,aneurysms) are not common in tuberous sclerosis and have been found predominantly in peripheral arteries.. Arterial lesion previously described in TS have been mainly in kidney, liver, aorta and distal arteries (Smulewicz etal;1997). Intracranial aneurysms are extremely rare, internal carotid artery being the most common site of involvement. Only 16 patients with intracranial aneurysms have been reported .Of the 16 cases described 6 ha

 

References

• ShyasunderB.sabat etal; joelcureetal; josephsullivan and rahul gujrathietal; Acta neurol Belg;2010,110, 89-92.
• Blaise v. Jones;etal, Thomas A. Tornick;etal and david N. Franc;etal AJNR 2002 23: 1145-1148.
• Henry J Baskin jr;etal pediatr radiol(2008) 38:936-952.
• Baron Y, Barkovich AJ MR imaging of tuberous sclerosis in neonates and young infants AJNR AM J neuro.radiol 1999; 20: 907-916.
• Beltranello A, Puppini G, Bricolo A.;etal, does tuberous sclerosis complex include intracranial aneurysms? A case report with review of literature. Pediatr radiol 1999; 29 206-211. • Smulewicz JJ, Tafeshi M. Angiographic changes in tuberous sclerosis. Angiology 1997; 28 300-302.
• Dabora SL, etal Mutational analysis in a cohert of 224 tuberous sclerosis patient indicates increased severity of TSC2, compared with TSC1 diseases in multiple organs American journal of human genetics 2001; 68(1) 64-80.

 

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