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Type V hyperlipoproteinaemia in neonates
G N Thompson1, A J Knight, I H Craig
1Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.
Archives of Disease in Childhood
|September 1, 1987
Insights
A boy with neonatal jaundice was diagnosed with type V hyperlipoproteinaemia due to lipaemic serum. Dietary management over five years showed a typical clinical course, suggesting autosomal recessive inheritance.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Neonatal jaundice is a common condition in newborns.
- Hyperlipoproteinaemia is a group of genetic disorders characterized by elevated lipid levels.
Observation:
- A pediatric patient presented with neonatal jaundice.
- The patient exhibited lipaemic serum upon investigation.
- The condition was identified as type V hyperlipoproteinaemia.
Findings:
- Dietary treatment was initiated and maintained for five years.
- The patient experienced a typical clinical course for type V hyperlipoproteinaemia.
- Circumstantial evidence pointed towards an autosomal recessive inheritance pattern.
Implications:
- Early diagnosis and dietary management are crucial for type V hyperlipoproteinaemia.
- Understanding the inheritance pattern aids in genetic counseling.
- This case highlights the importance of investigating neonatal jaundice for underlying metabolic disorders.
Abstract:
A boy investigated for neonatal jaundice was noted to have lipaemic serum and was subsequently shown to have type V hyperlipoproteinaemia. Dietary treatment was maintained for five years and he followed a typical clinical course. Circumstantial evidence suggested an autosomal recessive inheritance pattern.