Tuberous sclerosis complex

Clinical vignette
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By Hema R Murali MBBS and Narayana S Murali MD

A 6-month-old girl presented with a history of spells manifesting for 1 week prior to presentation to the physician. These episodes were characterized by a brief flexion of her neck and abduction and extension of the arms. They occurred 5 to 10 times in a cluster, many times a day, predominantly while awakening. The clusters had been gradually lengthening in duration over time. She occasionally cried after a cluster. She had stopped smiling and tracking. She no longer cooed or played with her toys.

She was born vaginally at term following an uncomplicated pregnancy. Her birth was unremarkable except for an episode of tachycardia diagnosed as Wolf-Parkinson-White syndrome. Her development had been age appropriate and the family history was unremarkable.

On exam she was nondysmorphic and alert. She did not smile, coo, or track consistently. On Wood's light exam, she had a few hypopigmented macules on her trunk. Cranial nerve, sensory, and motor exam were normal for her age.

Brain MRI revealed cortical tubers and subependymal nodules on both T1 and T2 images. Cardiac echo revealed a rhabdomyoma. EEG revealed hypsarrhythmia. The child was initiated on ACTH and did well without clinical seizures.

This child met the criteria for definite tuberous sclerosis complex, having 4 major criteria for diagnosis.

In This Article

Historical note and nomenclature
Clinical manifestations
Clinical vignette
Pathogenesis and pathophysiology
Differential diagnosis
Diagnostic workup
Prognosis and complications
References cited