Clinical cases

The following five clinical cases of primary BASDs may provide a clearer clinical picture of these disorders and their eventual diagnosis.

Clinical case 1

Male aged 2.5-years admitted to hospital due to failure to thrive, chronic diarrhoea and fat-soluble vitamin deficiencies.1

Clinical case 3

Twin girls presenting with refractory vitamin D-deficiency rickets and failure to thrive at 6 months of age.3

Clinical case 2

Male aged 27 months referred for progressively worsening hepatomegaly over the last year and failure to gain weight.

Clinical case 4

Twin girls admitted to hospital at 8 months of age for progressive cholestasis and liver failure.4

Clinical case 5

Explore “ How to diagnose bile acid synthesis disorders” via the story of Lucas: a 1 year old boy with suggestive signs and symptoms of chronic cholestatic liver disease.

Clinical case 1

Male aged 2.5-years admitted to hospital due to failure to thrive, chronic diarrhoea and fat-soluble vitamin deficiencies.1

Clinical case 2

Male aged 27months referred for progressively worsening hepatomegaly over the last year and failure to gain weight.

Clinical case 3

Twin girls presenting with refractory vitamin D-deficiency rickets and failure to thrive at 6 months of age.3

Clinical case 4

Twin girls admitted to hospital at 8 months of age for progressive cholestasis and liver failure.4

Clinical case 5

Explore “ How to diagnose bile acid synthesis disorders” via the story of Lucas: a 1 year old boy with suggestive signs and symptoms of chronic cholestatic liver disease.

1. Rinawi F, Iancu TC, Hartman C, et al. Fat malabsorption due to bile acid synthesis defect. Isr Med Assoc J. 2015;17(3):190-192.

2. Bossi G, Giordano G, Rispoli GA, et al. Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene. Pediatr Rep. 2017;9(3):7266. Published 2017 Oct 10. doi:10.4081/pr.2017.7266 

3. Ahmad O, Nogueira J, Heubi JE, Setchell KDR, Ashraf AP. Bile Acid Synthesis Disorder Masquerading as Intractable Vitamin D-Deficiency Rickets. J Endocr Soc. 2018;3(2):397-402. Published 2018 Dec 31. doi:10.1210/js.2018-00314

4. Gonzales E, Cresteil D, Baussan C, et al. SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. J Hepatol 2004;40(4):716-8. doi: 10.1016/j.jhep.2003.12.024 [published Online First: 2004/03/20]