Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability.
| Autor: | Söbü E; Department of Pediatric Endocrinology, Kartal Dr. Lutfi Kirdar City Hospital Kartal, Istanbul, Türkiye., Kaya Özçora GD; Faculty of Medical Sciences Pediatric Neurology Department, Gaziantep Hasan Kalyoncu University, Gaziantep, Türkiye., Görükmez Ö; Department of Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Türkiye., Şahinoğlu B; Medical Genetics Department, Dr. Ersin Arslan Education and Research Hospital, Gaziantep, Türkiye. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Jan 06; Vol. 36 (4), pp. 424-429. Date of Electronic Publication: 2023 Jan 06 (Print Publication: 2023). |
| DOI: | 10.1515/jpem-2022-0586 |
| Abstrakt: | 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. (© 2023 Walter de Gruyter GmbH, Berlin/Boston.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|