TUBEROUS
SCLEROSIS
Tuberous sclerosis
is an autosomal dominant disorder localized to chromosome 9
and characterized by:
-
adenoma sebaceum (facial angiofibromas);
-
mental deficiency;
-
epilepsy-ungula fibromas;
-
retinal or optic nerve astrocytic hamartomas;
-
subependymal nodules;
-
multiple cortical tubers;
-
bilateral renal angiomyolipomas;
-
renal cysts;
-
cardiac rhabdomyomata;
-
calcified cerebral astrocytic hamartomas;
-
white ash-leaf spots on skin;
-
bony changes including cortical thickening
of the metatarsal and metacarpal bones.
NOTE ABOUT MRI
FINDINGS: While enhancement of the subarachnoid
space is commonly associated with meningitis, the presence
of a phakomatosis increases the likelihood that the enhancement
is due to pial
or arachnoid angiomata.

RETINAL
ASTROCYTIC
HAMARTOMA IN TUBEROUS
SCLEROSIS
- arise from inner surface of retina or optic nerve;
- circular or oval, well circumscribed, white, elevated (although
early may be flat and translucent);
- multiple lesions common;
- may calcify in a nodular pattern later in life (calcific
degeneration);
- may be cystic;
- in general, little to no growth, and observation is indicated;
- occasionallyespecially in younger patientsmay
grow progressively and may cause visual loss via vitreous hemorrhage,
intraretinal and/or subretinal exudation. Some of these patients
may require photocoagulation of the tumor.
NOTE: In the Humphrey
visual field, the few missed spots located superiorly in the
left eye may correlate with the inferior fundus lesion in
this eye.
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