Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage
| Autor: | Carlos Martin-Restrepo, Alberto Velez-van-Meerbeke, Eduardo Orrego-González |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Intracerebral hemorrhage
0303 health sciences medicine.medical_specialty business.industry 030305 genetics & heredity medicine.disease LEOPARD Syndrome Dermatology PTPN11 03 medical and health sciences Dysmetria Genetics medicine Noonan syndrome Missense mutation Craniofacial business Genetics (clinical) Noonan Syndrome with Multiple Lentigines 030304 developmental biology |
| Zdroj: | Molecular Syndromology. 12:57-64 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000512374 |
| Popis: | 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-old girl 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 in the 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. |
| Databáze: | OpenAIRE |
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