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Published on: January 4, 2018
Congenital hyperinsulinsim: case report and review of literature
Brahim El Hasbaoui1, Abdelhkim Elyajouri1, Rachid Abilkassem1
1Department of pediatrics, Military Teaching Hospital Mohammed V, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
Insights
Congenital hyperinsulinism (CHI) causes severe neonatal hypoglycemia. This case highlights the critical need for early diagnosis and management, as diazoxide-unresponsive CHI can be fatal despite aggressive treatment.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Neonatal hypoglycemia (NH) is a common newborn abnormality, posing significant risks for morbidity and potential brain damage.
- Congenital hyperinsulinism (CHI) is the most frequent and severe cause of persistent hypoglycemia in neonates and children.
- Early recognition and management of CHI are crucial to prevent neurological impairment, epilepsy, and cerebral palsy.
Observation:
- This case study details a severe instance of congenital hyperinsulinism in an infant girl presenting with lethargy, irritability, and seizures.
- The infant experienced profound hypoglycemia unresponsive to aggressive medical interventions, including diazoxide therapy.
- The patient ultimately succumbed to the severe congenital hyperinsulinism, underscoring treatment challenges.
Findings:
- Congenital hyperinsulinism is a heterogeneous disorder characterized by dysregulated insulin secretion from pancreatic beta-cells.
- Histologically, CHI presents as focal or diffuse disease, with distinct inheritance patterns (autosomal recessive/dominant for diffuse, sporadic for focal).
- Advances in genetic understanding have improved pathophysiology insights, yet management remains complex, requiring integrated clinical, biochemical, molecular, and imaging data.
Implications:
- This case underscores the critical importance of timely diagnosis and tailored management strategies for congenital hyperinsulinism.
- It highlights the limitations of current treatments, particularly diazoxide unresponsiveness, in severe cases of CHI.
- Further research into novel therapeutic approaches for diazoxide-unresponsive congenital hyperinsulinism is warranted to improve patient outcomes and prevent mortality.
Abstract:
Neonatal hypoglycemia (NH) is one of the most common abnormalities encountered in the newborn. Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Congenital hyperinsulinism (CHI) is the most common and severe cause of persistent hypoglycemia in neonates and children, it represents a group of clinically, genetically and morphologically heterogeneous disorders characterised by dysregulation of insulin secretion from pancreatic β-cells. It is extremely important to recognize this condition early and institute appropriate management to prevent significant brain injury leading to complications like epilepsy, cerebral palsy and neurological impairment. Histologically, CHI is divided mainly into two types focal and diffuse disease. The diffuse form is inherited in an autosomal recessive (or dominant) manner whereas the focal form is sporadic in inheritance and is localized to a small region of the pancreas. Recent discoveries of the genetic causes of CHI have improved our understanding of the pathophysiology, but its management is complex and requires the integration of clinical, biochemical, molecular, and imaging findings to establish the appropriate treatment according to the subtype. Here we present a case of sever congenital hyperinsulinism in a girl admitted for lethargy, irritability and general seizures accompanied with profound hypoglycemia, in spite of aggressive medical treatment, she died because of sever congenital hyperinsulinism diazoxide unresponsive.
