The short- and long-term outcome of 24 children with infantile spasms and tuberous sclerosis was studied at the Department of Pediatrics, University of Turku, Finland and at the Children’s Hospital, University of Helsinki.
The short- and long-term outcome of 24 children with infantile spasms and tuberous sclerosis was studied at the Department of Pediatrics, University of Turku, Finland and at the Children’s Hospital, University of Helsinki. They comprised 10% of all cases of infantile spasms treated in the two hospitals between 1964 and 1985. CT showed brain calcifications in 20 patients examined at an early age. Three of 14 patients tested by renal ultrasound had large polycystic kidneys and severe arterial hypertension. Early diagnosis and the avoidance of ACTH therapy could have prevented hypertensive crises secondary to ACTH injections. One child developed severe myocardial hypertrophy during ACTH therapy and two had rhabdomyomas demonstrated by cardiac ultrasound and angiography at age one week. Short-term outcome was good but relapses were frequent and the long term outcome was disappointing. All were mentally retarded, only 4% were seizure free at follow-up and 42% had behavioral problems. When examined at 2½ to 19 years of age, 58% had partial or focal, often secondary generalized seizures, and 37% had myoclonic astatic or Lennox-Gas taut syndrome. The dose of ACTH was 20-40 IU daily for six weeks in eight children and 80-140 IU daily in 14 children. Arterial hypertension occurred in ten, two developed cardiac failure, three had fluid retention in the cysts of polycystic kidneys and developed hypertensive crises during therapy. Infections (otitis, gastroenteritis, pneumonia) occurred in four. [1]
COMMENT. The demonstration of cerebral calcifications by CT in all patients with tuberous sclerosis at an early age is of interest. The necessity for abdominal ultrasound in diagnosis and before ACTH therapy is indicated by the study. The dosage of ACTH used was exceptionally large and would have accounted for the unusually high incidence of side effects and frequency of arterial hypertension. Many authorities are content with much smaller doses, 10 and at the most 20 IU of ACTH daily given for shorter periods (three weeks) and repeated at intervals when necessary. Early treatment with ACTH is important in terms of the response of infantile spasms to therapy and possibly in relation to subsequent development [2]. In the present study of patients with tuberous sclerosis and infantile spasms, early treatment with large doses of ACTH provided an initial good response but the long-term outcome was poor despite prolonged administration.
RiikonenRSimellOTuberous sclerosis and infantile spasmsDev Med Child Neurol1990Mar32320320910.1111/j.1469-8749.1990.tb16926.x2155840GordonNEarly treatment of infantile spasms (West syndrome) and of myoclonic encephalopathyDev Med Child Neurol1990Apr32436310.1111/j.1469-8749.1990.tb16950.x2158918