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TUBEROUS SCLEROSIS

Tuberous sclerosis in the neonatal period has three presentations: (1) hypopigmented spots; (2) cardiac rhabdomyomas; and (3) seizures. Renal abnormalities seldom produce clinical manifestations in the neonatal period.
The most frequent presentation is multiple hypopigmented spots on the trunk and limbs. The hypopigmented spots are flat and the edges irregular but sharply delineated. Their shape resembles an ash leaf or an arrow head. The hypopigmented spots may be difficult to see in neonates with light-skin (Figure 299.1 [A]). A Wood’s lamp examination (Figure 299.1 [B]) may “bring them out.” The question of how many typical or atypical depigmented spots are needed to diagnose tuberous sclerosis has not been determined.

A B C

Figure 299.1.— Tuberous sclerosis. [A] Skin examination under normal light; [B] skin examination under Wood's light; [C] typical location of intracranial calcifications (close to the foramina of Monro).

The approach to a patient with one or more typical or atypical hypopigmented spots varies: (1) if seizures are present, ultrasonography of the heart and kidneys, and an MRI of the brain should be performed; and (2) if seizures are not present ultrasonography of the brain, heart, and kidneys should be performed. The presence of a typical tuberous sclerosis lesion in any of these organs establishes the diagnosis.
The second most frequent presentation is a heart murmur secondary to cardiac rhabdomyomas. Cardiac rhabdomyomas are readily discovered by ultrasound or MRI (Figure 299.2).

Figure 299.2.— Tuberous sclerosis. Cardiac rhabdomyomas: large enhancing mass within the ventricle.

The third most frequent presentation is seizures due to cortical tubers. Hydrocephalus due to subependymal hamartomas may also occur.

 

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hypopigmented spot occipital horn of the ventriculus lateralis occipital horn of the ventriculus lateralis periventricular calcifications close to the orifice of Monro Click on figure C for animated labels.  Pause pointer on different areas of the figure for labels. Figure must be centered. diagnostic criteria? MRI findings in neonates with TS?