Related Experiment Video

Updated: Jan 31, 2026

Assessing the Coherence of Parents' Short Narratives Regarding their Child Using the Five-Minute Speech Sample Procedure
07:56

Assessing the Coherence of Parents' Short Narratives Regarding their Child Using the Five-Minute Speech Sample Procedure

Published on: September 19, 2019

10.8K

Hypocholesterolaemia in a child with familial hypercholesterolaemia

Jemma Weidinger1, Cherie Conroy1, Damon Bell2,3

  • 1Department of General Paediatrics, Perth Children's Hospital, Nedlands, Western Australia, Australia.

BMJ Case Reports
|January 29, 2026
PubMed

Insights

A boy with familial hypercholesterolaemia presented with unexpectedly low LDL cholesterol. This case highlights historical surgical treatments for severe high cholesterol before statins were available.

Area of Science:

  • Pediatric Endocrinology
  • Cardiovascular Genetics
  • Surgical History

Background:

  • Familial hypercholesterolaemia (FH) is a genetic disorder causing high LDL cholesterol.
  • Early diagnosis and treatment are crucial to prevent cardiovascular disease.
  • Surgical interventions were historically employed for severe FH cases.

Purpose of the Study:

  • To report a case of familial hypercholesterolaemia with an unusual presentation.
  • To discuss the role of neonatal surgery in managing severe hypercholesterolaemia.
  • To remind clinicians of pre-statin era treatment strategies.

Main Methods:

  • Case report of a pediatric patient.
  • Genetic confirmation of familial hypercholesterolaemia.
  • Review of neonatal surgical history (distal ileal resection, right hemicolectomy).

Main Results:

  • The patient exhibited genetically confirmed familial hypercholesterolaemia.
  • An unusually low level of low-density lipoprotein (LDL) cholesterol was observed.
  • The patient had a history of neonatal surgery for ileal atresia and microcolon.

Conclusions:

  • Neonatal surgical interventions may be associated with altered lipid profiles in FH patients.
  • This case underscores the historical significance of surgical management for severe hypercholesterolaemia.
  • It serves as a reminder of therapeutic evolution in managing genetic lipid disorders.

Keywords:
Lipid disordersPaediatrics (drugs and medicines)

More Related Videos

Making MR Imaging Child's Play - Pediatric Neuroimaging Protocol, Guidelines and Procedure15:18

Making MR Imaging Child's Play - Pediatric Neuroimaging Protocol, Guidelines and Procedure

Published on: July 30, 2009

18.7K
Assessment of Child Anthropometry in a Large Epidemiologic Study09:36

Assessment of Child Anthropometry in a Large Epidemiologic Study

Published on: February 2, 2017

27.9K

Related Concept Videos

Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
16.9K
Protein Families02:47

Protein Families

4.4K
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
9.9K
Gene Families01:57

Gene Families

3.8K
Family Therapy01:30

Family Therapy

Family therapy conceptualizes psychological challenges as arising from dysfunctional interactions within the family unit, rather than as isolated issues within individuals. This approach seeks to address and transform the patterns of communication, roles, and relationships within families to promote healthier dynamics and emotional well-being for all members.
Strategic Family Therapy
Strategic family therapy emphasizes resolving communication barriers and improving problem-solving abilities...
597
Sources of Self-Esteem I: Family Experience01:18

Sources of Self-Esteem I: Family Experience

Self-esteem, a crucial component of psychological development, is significantly shaped by familial experiences. The early parent-child relationship serves as a foundational influence on a child's self-concept, with long-lasting effects extending into adolescence and adulthood.Parental Behaviors and Early Self-Esteem FormationEmpirical studies have identified four principal parental behaviors that foster healthy self-esteem in children. These include expressions of acceptance, affection, and...
193