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Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature
- Source :
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 18(3)
- Publication Year :
- 2015
-
Abstract
- Costello syndrome is characterized by constitutional mutations in the proto-oncogene HRAS, causing dysmorphic features, multiple cardiac problems, intellectual disability, and an increased risk of neoplasia. We report a male infant with dysmorphic features, born prematurely at 32 weeks, who, during his 3-month life span, had an unusually severe and ultimately fatal manifestation of hypertrophic cardiomyopathy and hyperinsulinemic hypoglycemia. Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome. The major autopsy findings revealed hypertrophic cardiomyopathy, congenital myopathy, and a 1.4-cm pancreatic nodule that was positive for insulin expression and morphologically identical to a focal lesion of congenital hyperinsulinism. Sequencing of KCNJ11 and ABCC8, the 2 most commonly mutated genes in focal lesion of congenital hyperinsulinism, revealed no mutations. While hyperinsulinism is a recognized feature of RASopathies, a focal proliferation of endocrine cells similar to a focal lesion of hyperinsulinism is a novel pathologic finding in Costello syndrome.
- Subjects :
- 0301 basic medicine
Male
Pathology
medicine.medical_specialty
030105 genetics & heredity
RASopathy
medicine.disease_cause
Proto-Oncogene Mas
Pathology and Forensic Medicine
Proto-Oncogene Proteins p21(ras)
03 medical and health sciences
Costello syndrome
medicine
Humans
HRAS
Hyperinsulinemic hypoglycemia
Pancreas
business.industry
Costello Syndrome
Hypertrophic cardiomyopathy
Infant, Newborn
Infant
General Medicine
Cardiomyopathy, Hypertrophic
medicine.disease
Congenital myopathy
030104 developmental biology
Pediatrics, Perinatology and Child Health
Mutation
Congenital hyperinsulinism
Congenital Hyperinsulinism
business
Hyperinsulinism
Subjects
Details
- ISSN :
- 10935266
- Volume :
- 18
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
- Accession number :
- edsair.doi.dedup.....f3e8a3baadd8da6499d3ba9c96efa507