Tuberous sclerosis symptom, radiology, skin sign
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioural problems, skin abnormalities, lung disease, and kidney disease
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| Adenoma sebaceous Photo courtesy:Dr. Sulaiman khan |
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| Shagreen patch Photo courtesy: Dr Sulaiman Khan |
Case story
A 5-year-old child (male) presented to me with complaints of an a.recurrent attack of convulsion for 2 years and Delayed milestones of development
On examination
Pt is non-cooperative
Anaemia -
Jaundice -
LN
Thyroid gland
Vitals within normal limit
Skin... Adenoma sebaceous Shagreen patch
Investigation:
EEG: Normal
CT scan of the brain: periventricular Calcification
Dx.. tuberous Sclerosis.
Ct scan brain: tuberous sclerosis
Clinical Information: H/O Convulsion Delayed milestone
Finding:»
Multiple subependymal dense nodular calcification is seen in both lateral ventricles
. Ventricles are not dilated. Brain parenchyma of both cerebral hemispheres is normal in attenuation to wither any focal lesion, with well grey and white matter differentiation.
Brainstem appears unremarkable.
Cerebellum and CP angles are normal,
» Midbne structures are not shifted. Extroventriculor CSF spaces are not widened. Sella and para-seller regions revealed no abnormality.
Orbits revealed no obnormality+ Skull bones and soft tissue around the skull are normal.
Mucosal thickening Is seen in both maxillaries. sphenoid and ethmoid sinuses.
Comment:
1, Suggestive of tuberous sclerosis.
2. Moxillery sphenoid and ethmoid sinusitis (BT)