ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2026
[Clinical characteristics of six cases of neurofibromatosis type 1-associated infantile epileptic spasms syndrome].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTo summarize the clinical characteristics of neurofibromatosis type 1 (NF1) associated with infantile epileptic spasms syndrome (IESS).
methodsA 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.
resultsAmong 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 T
conclusionsChildren with NF1 and IESS commonly present with the typical triad of IESS. Some patients show NF1-related T
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