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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Zellweger Syndrome | 1A0 Case 1 History
The patient was a 10 month old male who presented at birth with seizures, stridor and severe hypotonia. He was admitted for an extensive workup and the presence of elevated very long chain fatty acids were discovered. The patient developed infantile spasms with difficult to control seizures initially treated with tegretol and phenobarbital. The tegretol was progressively increased but the seizures continued albeit at a slightly lower frequency. He did not smile, fix-follow, or pick up his head nor turn to sound and had little spontaneous movement. There were frequent brief seizures lasting 20-30 seconds, each characterized by right eye twitching, mouthing movements and extension of the left arm and leg and flexion and drawing toward the chest of the right arm and flexion of the right leg. Pupils were symmetric pupils reactive to light with full extraocular movements to oculocephalic maneuver. The disks appeared unremarkable and were sharp. He did not fix or follow light and appeared cortically blind. A high arched palate was noted and the patient had a gag reflex. He was markedly hypotonic and would weakly withdraw his upper extremities to pain and had somewhat better withdrawal in his lower extremities to pain. He had no grasp reflexes and no deep tendon reflexes were elicitable . Toes were both upgoing. The patient was discharged home and expired on before his first birthday.
