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Congenital hyperinsulinism in a newborn presenting with poor feeding.
Mazloom, Kiran; Sanchez-Lara, Pedro A; Langston, Seth; Grand, Katheryn; Schweiger, Bahareh.
Afiliación
  • Mazloom K; College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA, USA.
  • Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Beverly Hills, CA, USA.
  • Langston S; Division of Neonatology, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Beverly Hills, CA, USA.
  • Schweiger B; Department of Pediatric Endocrinology, Cedars-Sinai Medical Center, Beverly Hills, CA, USA.
SAGE Open Med Case Rep ; 10: 2050313X221083174, 2022.
Article en En | MEDLINE | ID: mdl-35371490
Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion. In infants, an inappropriately persistent hypoglycemic and hypoketotic state can cause severe brain injury leading to epilepsy, cerebral palsy, and neurodevelopmental disabilities due to the lack of glucose and ketone substrate to serve as fuel for the developing brain. The most common cause of persistent hypoglycemia in neonates and children has been found to be congenital hyperinsulinism. Here, we report a child with a unique presentation, found to have a novel genetic variant as the underlying cause of hyperinsulinism. This case study highlights the importance of maintaining a broad differential and considering a diagnosis of congenital hyperinsulinism in a baby with poor feeding in the newborn period. Recognizing and treating congenital hyperinsulinism is essential to prevent potential neurological sequelae from recurrent, severe hypoglycemia.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido