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Permanent neonatal diabetes mellitus: a case report with plasma insulin studies
Insights
This case study reports the 11th instance of permanent neonatal diabetes mellitus diagnosed within the first month of life. Beta-cell function was severely impaired, requiring long-term insulin therapy.
Area of Science:
- Pediatrics
- Endocrinology
- Metabolic Disorders
Background:
- Neonatal diabetes mellitus is a rare condition requiring early diagnosis and management.
- Permanent neonatal diabetes mellitus (PNDM) necessitates lifelong insulin therapy.
- Understanding the underlying pathophysiology is crucial for effective treatment.
Purpose of the Study:
- To report the 11th case of permanent neonatal diabetes mellitus.
- To review the literature on PNDM.
- To investigate beta-cell function in a neonate with PNDM.
Main Methods:
- Case presentation of an infant diagnosed with PNDM within the first month of life.
- Literature review of permanent neonatal diabetes mellitus cases.
- Insulin-stimulation tests to assess beta-cell response.
- Analysis of acetonuria and its relation to hyperglycemia.
Main Results:
- The infant required continuous insulin therapy for over 30 months, confirming permanent diabetes.
- Insulin-stimulation tests revealed a near-total failure of beta-cell response.
- Only very high glucagon doses elicited a moderate insulin secretion.
- Absence of acetonuria was observed, potentially due to hyperglycemia-induced glucose penetration.
Conclusions:
- This case highlights the severe beta-cell dysfunction in permanent neonatal diabetes mellitus.
- The findings underscore the need for early and sustained insulin management.
- Hyperglycemia may play a role in preventing ketogenesis in PNDM.
Abstract:
The 11th case of permanent neonatal diabetes mellitus appearing during the first month of life is reported. A critical review of the literature is also presented. The permanence of diabetes is demonstrated by the duration of insulin therapy still necessary after 30 months. Insulin-stimulation tests have been performed some for the first time in such a young diabetic. They have shown a nearly total failure in beta-cell response, only very high doses of glucagon provoking a moderate insulin secretion. The absence of acetonuria is discussed. It can perhaps be explained by the hyperglycemia which, by a mass effect, brings about cellular glucose penetration and this stops liberation of Nefa's from adipose tissue.