Two patients, ages 7 and 2 years, with neurofibromatosis type 1 complicated by infantile spasms are reported from the Pediatric Institutes, Siena and Catania, Italy. ACTH and anticonvulsants were ineffective. Both children were mentally retarded and one had UBOs on MRI. The authors believe that the association of NF-1 and infantile spasms is not a coincidence and infantile spasms should be included among the clinical manifestations of NF-1. [1]
COMMENT. The authors cite 7 additional cases of infantile spasms with NF-1 in the literature, the first reference to this association originating from Japan [2]. They include a report by Motte et al of 15 cases, all responsive to steroids and having a good mental outcome (1992, unpublished data). A reference to 2 cases reported in a population study of 135 patients with NF-1 in Wales was omitted [3]. Infantile spasms and hypsarrhythmia occur much less frequently with NF-1 than in tuberous sclerosis, but the association is more prevalent than expected.