Tuberous Sclerosis in a Teenage Girl With Seizures and Mental Retardation

September 14, 2005
Gopi Rana-mukkavilli, MD

A 16-year-old girl with seizures and mental retardation presented for a routine examination. Tuberous sclerosis had been diagnosed during infancy.

A 16-year-old girl with seizures and mental retardation presented for a routine examination. Tuberous sclerosis had been diagnosed during infancy.

Gopi Rana-Mukkavilli, MD of New York noted an ash-leaf shaped patch on the patient's lumbosacral region; a second, similar lesion was found on the trunk. These nonpainful, nonpruritic hypopigmented macules are common in patients with tuberous sclerosis. The differential for these skin patches includes vitiligo, pityriasis alba, and caf au lait spots. The presence of cortical tubers on CT or MRI scans confirms the diagnosis of tuberous sclerosis.

Ash-shaped lesions are usually present at birth in patients with tuberous sclerosis and are one of the earliest signs of the disease. Particularly in fair-skinned persons, Wood light examination may help to visualize these lesions, which contain melanocytes with decreased numbers of melanosomes.

No treatment is needed for the usually asymptomatic skin lesions. Antiseizure drugs are often used and certain cortical tubers can be resected. The pulmonary, renal, and cardiac complications of this progressive disease typically result in a shortened life span.

The prognosis for this patient is poor because of the associated hamartomas in the kidney and tuberous dysplasia in the brain. She will be monitored closely.