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Posted On : 07 Dec 2025

1-month-old male baby, one of twins, presented since birth with persistent hypoglycemia (28-42 mg/dl), physical exam Normal (no organomegaly) and lab serum insulin. cortisone, growth hormone, glucagon, TSH, T4, all normal. Metabolic screen is normal. His twin is normal. What is your diagnosis?

Expert Answer :

Answer Discussion :

P

puja harpale

0

Persistent Hyperinsulinemic hyperglycemia of infancy.

14 Days ago

R

rubahika kwehangana ntabaare

0

Persistent Hyperinsulinemic Hypoglycemia of Infancy

16 Days ago

?

???? ????

0

Small for gestational age

18 Days ago

D

Dfsa Ata

0

cong.subtle hyper insulnism or defect in glylucose production
or abnormal glycogen metabolism

19 Days ago

S

Shilpa Rahamatkar

0

feeding problem....due to twins ....what is the weight of a twin? , preterm or full term?....what about sucking reflex? It can be due to sepsis too ...

19 Days ago

Answer 1

It is difficult to come to a diagnosis quickly in such cases. It would be necessary to carefully monitor the Glucose infusion rate needed to maintain safe blood Glucose levels. If the Glucose requirement is more than 12 mg/kg/min, it is suggestive of Persistent Hyperinsulinemic Hypoglycemia of Infancy.
In the end, it would be worthwhile to work up for storage disorders like Glycogen Storage Disorders, especially type 4. Other causes would include Fatty Acid Oxidation defects and Medium Chain Acyl CoA Dehydrogenase deficiency (MCAD deficiency), which also feature hypoglycemia commonly in the clinical scenario. These disorders may not be picked up by routine metabolic screening tests.
The other twin may be due to a super-fecundation gestation and may not be identical to the one in discussion; this is to explain the normal twin if we are considering a hereditary autosomal recessive disorder in the index case.

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