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Year : 2004  |  Volume : 14  |  Issue : 4  |  Page : 423-425
Case report : Tuberous sclerosis - it's varied presentation


Department of Radiology, Gujarat Cancer and Research Institute Civil Hospital, Ahmedabad, Gujarat., India

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Keywords: Tuberous sclerosis, Angiomyolipoma, Subependymal giant cell astrocytoma

How to cite this article:
Patel S B, Shah S S, Goswami K, Shah N, Pandhi S. Case report : Tuberous sclerosis - it's varied presentation. Indian J Radiol Imaging 2004;14:423-5

How to cite this URL:
Patel S B, Shah S S, Goswami K, Shah N, Pandhi S. Case report : Tuberous sclerosis - it's varied presentation. Indian J Radiol Imaging [serial online] 2004 [cited 2019 Sep 17];14:423-5. Available from: http://www.ijri.org/text.asp?2004/14/4/423/28687

   Introduction Top


Tuberous sclerosis is a neurocutaneous syndrome with an autosomal dominant inheritance. Tuberous sclerosis has an approximate incidence of one in ten thousand to fifty thousand. The clinical triad of papular facial nevus, seizures and mental retardation is found in less then half of the patient. Thus the radiological hallmarks of this neurocutaneous syndrome are universally accepted as sufficient for diagnosis [1].

We report four patients who presented with typical skin lesions, seizures and abdominal lump with pain.


   Case report Top


Case 1

A10 year old boy presented to CT department as a case of hydrocephalus under investigation. CECT brain showed presence of a large heterodense space-occupying lesion with internal calcification near the foramen of monro. It showed inhomogenous contrast enhancement with proximal obstructive hydrocephalus [Figure - 1]. USG abdomen showed presence of echogenic angiomyolipomas in both kidneys.

Case 2:

A 25 year old man presented with abdominal pain and with past history of seizures. Clinical examination of patient revealed adenoma sebaceum on the face. He was slightly mentally retarded. USG abdomen showed presence of a mixed echogenic well defined mass arising from upper pole of left kidney. CECT abdomen showed a large heterodense lesion with inhomogenous enhancement arising from upper pole of left kidney [Figure2].

Pathologically it turned out to be a malignant variety of angiomyolipoma.

NCCT brain revealed subependymal calcified nodules. Skeletal survey showed presence of bone cysts in terminal phalanges [Figure - 3] and flame shaped radio-opaque lesions in both iliac wings.

On follow up after 4 months, USG of abdomen showed multiple metastasis in liver and a large para aortic lymphnode mass.

Case 3:

A 14 year old boy presented with lump in abdomen. Clinical examination showed adenoma sebaceum on face. On eliciting proper history he had a complaint of seizures but mental retardation was not present. CECT abdomen showed a large mixed echogenic mass with cystic, solid components and areas of fat density, arising from upper pole of right kidney [Figure - 4]. The mass was also extending into perirenal space. Post operative histopathology confirmed it to be angiomyolipoma. There were multiple other echogenic angiomyolipomas in both kidneys. Liver showed multiple fat density angiomyolipomas [Figure - 5]. Skeletal survey revealed typical features of tuberous sclerosis.

Case 4:

A 20 year old woman presented with abdominal pain. Patient was mentally retarded. Clinical examination of the patient revealed presence of facial angiofibromas.

USG of abdomen showed enlarged kidneys, the parenchyma of which was completely replaced by multiple echogenic lesions which was suggestive of angiomyolipomas.

Liver showed presence of haemangiomas. NCCT of brain showed presence of calcified subependymal nodules [Figure - 6].

X-Ray of both hands showed presence of bone cysts in terminal phalanges.


   Discussion Top

" Tuberous sclerosis" was first described in eighteen hundred eighty by Bourneville ( a french physician) . The neurocutaneous syndrome is named for the firm whitish tuber like nodules arising from the cerebral convolutions. The most frequently involved organs are brain, kidneys, lungs, heart, skin and skeleton.

CNS involvement:

Classical CNS involvement includes cortical tubers, subependymal nodules, subependymal giant cellastrocytoma and benign white matter lesions. Tubers are benign lesions composed of dysmorphic neurons occupying a cortical or subcortical location. They are detected by abnomal signal on M.R. or due to distortion of affected gyrus. Cortical tubers may calcify. By age ten, fifty percent of patients have calcified cortical tubers[2]. Subependymal nodules are found in nearly ninety-five percent of patients with tuberous sclerosis. The commonest site is near the caudate nucleus along the striothalamic groove of the lateral ventricle. NCCT delineates periventricular and parenchymal calcification very well. Subependymal giant cell astrocytomas are histologically benign tumors located near the foramen of Monro. They are frequently calcified, appear heterogeneous on CT and show in homogenous enhancement following contrast administration [3]. Associated obstructive hydrocephalous is a common symptom on presentation of the patient.

Renal involvement:

Renal lesions in tuberous sclerosis commonly consist of simple renal cyst and angiomyolipomas. Angiomyolipomas are benign in nature. They may arise in renal cortex or medulla. They are usually multiple and bi-lateral and are present in fifty to eighty percent of the patients with tuberous sclerosis [4]. On sonography classically angiomyolipomas are echogenic relative to renal parenchyma. If vascular element predominates, they may be hypo-echoic. Renal cell carcinoma though rarely associated with tuberous sclerosis may be its significant manifestations [5],[6]

Cutaneous involvement:

Cutaneous lesions are present in ninety six percent of the patients. These include facial angiofibroma (adenoma sebaceum) , subungal fibromas, and shagreen patches .

Skeletal involvement:

Skeletal involvement is present in fifty percent of patients and is typically asymptomatic. Common findings include bone islands in diploic spaces of skull vault and in pelvic bones, cysts and undulating periosteal reaction in metatarsals, metacarpals and phalanges. In pelvis, iliac blades are sites of flame shaped densities.

Miscellaneous lesions:

Pulmonary findings consist in less than one percent of patients with tuberous sclerosis. They occur in form of cystic lymphangiomyomas, and chronic fibrosis. Cardiac rhabdomyomas are true hamartomas and are found in approximately thirty percent of patients with tuberous sclerosis, predominantly children. Retinal hamartomas may occur in some patients but usually do not impair vision. Vascular abnormalities occur in form of aneurysms of thoracic or abdominal aorta. Vascular dysplasia with progressive occlusion of craniocervical vessels has been reported in association with moya moya like pattern of collateral circulation. Liver leiomyomas or adenomas may rarely occur.


   Conclusion Top


Thus knowledge of various associations of tuberous sclerosis can be helpful in retrogradely establishing the diagnosis.

The above point has been emphasized by the cases reported here.

 
   References Top

1.Braffman B H, Bilaniuk C T, Zimmerman R A: MR of central nervous system neoplasia of the phakomatoses, Sem Roentgenol 1990;25:198-217.  Back to cited text no. 1    
2.Kingsley D, Kendall B, Fitz C: tuberous sclerosis: a clinicoradiological evaluation of 110 cases with particular reference to atypical presentation, Neuroradio1986; 28: 171- 190.  Back to cited text no. 2    
3.Braffman B H, Bilaniuk L T, Naidich T P et al: MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis. Use of gadopentetate dimeglumine, and literature review. Radiology 1992; 183: 227-238.  Back to cited text no. 3    
4.Stillwell TJ,Gomez MR, KelalisPP: Renal lesions in tuberous sclerosis. J Urol 1987 ;138:477-481.  Back to cited text no. 4    
5.Renal cell carcinoma in a two year old child with tuberous sclerosis. J Urol 2002 Sept ;168(3): 1131-2.  Back to cited text no. 5    
6.Renal cell carcinoma as significant manifestation of tuberous sclerosis complex. J Assoc Physicians India 2000 March ;48(3):351-353.  Back to cited text no. 6    

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Correspondence Address:
S Pandhi
M.D. 79-A, Pritam Nagar, Ellis-Bridge, Ahmedabad-6.
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]



 

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