Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare autosomal dominant disorder with an unknown prevalence. Characteristics of this disease include cutaneous, neurologic, and cardiologic abnormalities. In this case report, we present a 12-year-oldgirl who was admitted to the emergency department for acute-onset left weakness, unsteady gait, nausea, and vomiting. Her physical exam notably showed left side upper motor neuron signs and dysmetria. CT scan revealed an acute hemorrhage of the right thalamus. Physical exam exhibited several craniofacial dysmorphisms and lentigines. The genetic test revealed a heterozygous missense mutation inthe protein tyrosine phosphatase non-receptor type 11 (PTPN11) gene and a variant of unknown significance of the MYH11 gene. To the best of our knowledge, this is the first case of a patient with NSML presenting an intracerebral hemorrhage.

Idioma originalInglés estadounidense
Número de artículo63
Páginas (desde-hasta)12-51
PublicaciónMolecular Syndromology
Fecha en línea anticipadaene. 27 2021
EstadoPublicada - mar. 1 2021

Áreas temáticas de ASJC Scopus

  • Genética
  • Genética (clínica)

Palabras claves de autor

  • Concepto
  • LEOPARD syndrome
  • Cerebral hemorrhage
  • Dysmorphic facia
  • features
  • Missense mutation
  • Noonan syndrome


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