Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus

Authors:	Cheryl B Bayart Gisele E Ishak Laura S Finn Amy Lee Francine Baran Angela Sun Deepti Gupta Nicholas A Vitanza

Institution:	1. Division of Dermatology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington;2. Department of Radiology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington;3. Division of Pathology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington;4. Department of Neurological Surgery, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington;5. Division of Ophthalmology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington;6. Division of Biochemical Genetics, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington;7. Division of Hematology/Oncology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Fred Hutchinson Cancer Research Center, Seattle, Washington

Abstract:	Incontinentia pigmenti (IP) is a genetic disorder caused by mutations in IKBKG, leading to functional loss of nuclear factor kappa B (NF‐?B). We report the case of a 6‐month‐old female child with IP who presented with unilateral nystagmus and was found to have a pilocytic astrocytoma with leptomeningeal spread. Enhanced understanding of the relationship between NF‐?B, along with its upstream regulators, and tumorigenesis may shed light on whether a subset of patients with IP may be at increased risk for neoplasia.

Keywords:	brain tumor biology incontinentia pigmenti low‐grade glioma nystagmus pilocytic astrocytoma

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