PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain
Open Access
- 16 April 2015
- journal article
- case report
- Published by Springer Science and Business Media LLC in BMC Neurology
- Vol. 15 (1), 1-4
- https://doi.org/10.1186/s12883-015-0310-8
Abstract
LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are caused by mutations in genes encoding proteins involved in the RAS-MAPK cellular pathway. Clinical heterogeneity and phenotype overlaps across those different syndromes is already recognized. We hereby report a heterozygous de novo mutation in the PTPN11 gene (c.1403C > T) manifesting with a clinical picture of LS during childhood, and later development of neuropathic pain with hypertrophic plexi, which are typically observed in NF1 but have not been reported in LS. LS caused by PTPN11 mutations may be associated with hypertrophic roots and plexi. Consequently, clinicians should be aware of the possible development of neuropathic pain and consider specific diagnostic work-up and management.Keywords
This publication has 20 references indexed in Scilit:
- Clinical and Imaging Findings in Three Patients With Advanced Inflammatory Demyelinating Polyradiculoneuropathy Associated With Nerve Root HypertrophyJournal of Clinical Neuromuscular Disease, 2012
- Targeting the MAPK–RAS–RAF signaling pathway in cancer therapyEmerging Therapeutic Targets, 2012
- LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteriaEuropean Journal of Pediatrics, 2011
- Disorders of dysregulated signal traffic through the RAS‐MAPK pathway: phenotypic spectrum and molecular mechanismsAnnals of the New York Academy of Sciences, 2010
- EFNS guidelines on the pharmacological treatment of neuropathic pain: 2010 revisionEuropean Journal of Neurology, 2010
- NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan SyndromeAmerican Journal of Human Genetics, 2005
- Malignant peripheral nerve sheath tumours in neurofibromatosis 1Journal of Medical Genetics, 2002
- Intraneural perineurioma of the common peroneal nerveJournal of Neurosurgery, 2001
- Nerve root and sciatic trunk enlargement in Déjérine-Sottas disease: MRI appearancesNeuroradiology, 1992
- The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: Are they the same?American Journal of Medical Genetics, 1991