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Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability

  • Elif Söbü ORCID logo EMAIL logo , Gül Demet Kaya Özçora ORCID logo , Özlem Görükmez ORCID logo and Bahtiyar Şahinoğlu ORCID logo
Published/Copyright: January 6, 2023
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 4

Abstract

Objectives

Lathosterolosis is a rare autosomal recessive congenital disease that occurs due to homozygous or compound heterozygous mutations in the sterol C5-desaturase (SC5D) gene. We report a male patient with biallelic missense variant detected in the SC5D gene.

Case presentation

An eight-month-old male patient was referred to the department of paediatric neurology for status epilepticus. He had no remarkable dysmorphic features except micrognathia, ptotic ear and thin-stranded hair. Laboratory tests revealed an alanine aminotransferase level of 502 IU/L and an aspartate aminotransferase level of 279 IU/L; other biochemical test results were normal. The brain MRI revealed atrophic changes in both hemispheres. A decrease in the volume of brain stem and thin corpus callosum were noticeable. Whole exome sequencing was performed because of consanguineous marriage and sibling death in his medical history, and the encountered features were consistent with suspected neurometabolic disease in the cranial imaging and the presence of borderline psychomotor retardation. A biallelic missense variant, c.656T>C p.(Leu219Ser), was identified in the SC5D gene.

Conclusions

Lathosterolosis is a rare cholesterol metabolism disorder and can be presented with a wide range of clinical features by newly reported cases. Lathosterolosis should be considered in cases with cataracts, delayed neuromotor developmental milestones and high levels of liver enzymes.

Keywords: cholesterol metabolism; elevated transaminases; lathosterol; microcephaly
Corresponding author: Elif Söbü, MD, Department of Pediatric Endocrinology, Kartal Dr. Lutfi Kirdar City Hospital, Şemsi Denizer Cad. E-5 Karayolu Cevizli Mevkii 34890 Kartal, Istanbul, Türkiye, Phone: +90(216) 4583000, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.

References

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/jpem-2022-0586).

Received: 2022-11-18
Accepted: 2022-12-30
Published Online: 2023-01-06
Published in Print: 2023-04-25

© 2023 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/jpem-2022-0586
Keywords for this article
cholesterol metabolism; elevated transaminases; lathosterol; microcephaly

Articles in the same Issue

  1. Frontmatter
  2. Reviews
  3. Approach to nutritional rickets
  4. Subclinical hyperthyroidism in children
  5. Original Articles
  6. Can thyroid elastography with ultrasound be used to stage children with Hashimoto’s thyroiditis?
  7. Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism
  8. Comparison of developmental outcomes in children with permanent and transient congenital hypothyroidism
  9. Impact of overweight and obesity on epicardial adipose tissue in children with type 1 diabetes
  10. Peripheral arterial disease among children with type 1 diabetes mellitus in a Nigerian teaching hospital
  11. The WHO-5 well-being questionnaire in type 1 diabetes: screening for depression in pediatric and young adult subjects
  12. Clinical correlation of 2D shear wave elastography findings in children with type 1 diabetes mellitus without autoimmune thyroiditis
  13. Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty
  14. Case Reports
  15. ALG11-CDG: novel variant and review of the literature
  16. Betamethasone cream to treat diapers rash causing Cushing syndrome
  17. Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome – neuro-endocrine tumours (ROHHAD-NET): case series and learning points
  18. Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability
  19. Urea as safe treatment for hyponatremia due to syndrome of inappropriate antidiuretic hormone in infant with solitary central incisor and neurofibromatosis-1
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