[Clinical characteristics of six cases of neurofibromatosis type 1-associated infantile epileptic spasms syndrome].
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OBJECTIVES: To summarize the clinical characteristics of neurofibromatosis type 1 (NF1) associated with infantile epileptic spasms syndrome (IESS). METHODS: A retrospective analysis was conducted on the medical records of six children with NF1 and IESS who were treated at Xiangya Hospital, Central South University, between January 2018 and April 2025. Clinical manifestations, ancillary examinations, treatment, and prognosis were summarized. RESULTS: Among the six children, two were male and four were female. All presented with café-au-lait spots, and each had one or more additional NF1-related manifestations. Three children had a first-degree family history of NF1. Seizure type was epileptic spasms in all cases, with hypsarrhythmia observed on electroencephalogram. Brain magnetic resonance imaging showed NF1-related T2 hyperintense lesions in the basal ganglia region in five cases. Electroclinical remission was achieved in all patients after treatment with adrenocorticotropic hormone and/or vigabatrin; however, varying degrees of neurodevelopmental delay remained. CONCLUSIONS: Children with NF1 and IESS commonly present with the typical triad of IESS. Some patients show NF1-related T2 hyperintense lesions in the basal ganglia on brain magnetic resonance imaging. Standard first-line treatments often control spasms effectively, but neurodevelopmental outcomes require long-term monitoring.