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Persistent hyperinsulinemic hypoglycemia of infancy: experience with 28 cases
A al-Rabeeah1, A al-Ashwal, A al-Herbish
1Department of Pediatric Surgery, King Faisal Specialist Hospital, Riyadh, Saudi Arabia.
Insights
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) in infants often correlates with consanguinity and family history. Early diagnosis and treatment, including pancreatectomy, lead to excellent outcomes for most PHHI patients.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a rare condition causing severe low blood sugar in newborns.
- Consanguinity and family history are significant factors in PHHI cases.
Purpose of the Study:
- To analyze clinical presentation, diagnosis, and treatment outcomes of PHHI in a cohort of infants.
- To highlight the correlation between PHHI, consanguinity, and family history.
Main Methods:
- Retrospective review of 28 infants diagnosed with PHHI over 10 years.
- Assessment of clinical presentation, diagnostic criteria (glucose requirement, glucagon response, insulin-to-glucose ratio), and treatment modalities (pancreatectomy, medical therapy).
Main Results:
- Jitters and seizures were the primary clinical signs. High insulin-to-glucose ratios were observed in all patients.
- Near-total pancreatectomy (90%) was performed on 22 infants, with excellent results in most cases.
- Twelve infants had pre-referral brain injury; no deaths occurred, and only one patient experienced post-surgical malabsorption.
Conclusions:
- PHHI is strongly associated with consanguinity and family history, underscoring the importance of genetic counseling.
- Early diagnosis and prompt intervention, including surgical or medical management, are crucial for favorable outcomes in PHHI.
- Clinical awareness and timely referral are essential to prevent severe neurological complications in infants with PHHI.
Abstract:
Twenty-eight infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) were seen during a 10-year period. There were 13 males and 15 females. Their age at time of presentation ranged from a few hours to 6 months. Consanguinity was reported in 20 cases (71.4%). One family had two affected siblings and two affected cousins, another had three affected siblings and one affected cousin, and three others had lost siblings because of hypoglycemia and seizures. The primary clinical presentation was jitters and seizures in association with hypoglycemia. The diagnosis was suspected when the therapeutic glucose requirement was found to be more than 12 mg/kg/min and also when there was a good response to glucagon after exclusion of metabolic and storage diseases. A high insulin-to-glucose ratio was noted for all patients. Twenty-two had near-total (90%) pancreatectomy; the result was excellent in all but four, who required supplemental medical therapy. Five patients were treated medically, and one patient's family refused treatment. Twelve patients sustained moderate to severe brain injury before referral. There were no deaths, and only one patient had evidence of malabsorption after the pancreatectomy. PHHI correlates well with consanguinity and family history. Clinical awareness is essential to permit early diagnosis and prompt medical and supportive therapy.(ABSTRACT TRUNCATED AT 250 WORDS)