MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 26003998.
- Also identified by DOI 10.1016/j.jpeds.2015.04.069.
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Abstract
We report a child with hypoinsulinemic hypoglycemia and distinctive facies, with a diagnosis of the previously described MORFAN (Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans) syndrome of unknown etiology. Whole-exome sequencing revealed a de novo AKT2 mutation. Although AKT2 has been implicated in four patients with hypoinsulinemic hypoglycemia, our report expands phenotypic spectrum to include MORFAN syndrome characteristics.
Medical subject headings
- Acanthosis Nigricans
- Congenital Hyperinsulinism
- Facies
- Growth Disorders
- Intellectual Disability
- Proto-Oncogene Proteins c-akt