Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016 Oct;95(40):e4819.
doi: 10.1097/MD.0000000000004819.

A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Mohammad F Aljabri  1 , Naglaa M Kamal, Moinuddin Arif, Asrar M AlQaedi, Enas Y M Santali
Affiliations
Case Reports

A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Mohammad F Aljabri et al. Medicine (Baltimore). 2016 Oct.

Abstract

Background: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index case of BTRBGD aiming to support its AR mode of inheritance, diagnose asymptomatic and missed symptomatic cases, and provide family screening with proper genetic counseling.

Methods: An index case of BTRBGD and his family underwent thorough clinical and radiological assessment along with genetic molecular testing.

Results: Two-and-half years old Saudi male child whose parents are consanguineous fulfilled the clinical and magnetic resonance imaging (MRI) criteria of BTRBGD. He was proved by molecular genetic testing to have homozygous mutation of c.1264A>G (p.Thr422Ala) in the SLC19A3 gene of BTRBGD. Extended clinical, radiological, and genetic family study revealed 2 affected members: a neglected symptomatic cousin with subtle neurological affection and an asymptomatic brother carrying the disease mutation in homozygous status. Heterozygous pattern was detected in his parents, his grandma and grandpa, his aunt and her husband, 2 siblings, and 1 cousin while 1 sibling and 2 cousins were negative to this mutation.Treatment of the patient and his diseased cousin with biotin and thiamine was initiated with gradual improvement of symptoms within few days. Treatment of his asymptomatic brother was also initiated.

Conclusion: BTRBGD requires high index of suspicion in any child presenting with unexplained subacute encephalopathy, abnormal movement, and characteristic MRI findings. Extended family study is crucial to diagnose asymptomatic diseased cases and those with subtle neurological symptoms.

PubMed Disclaimer

Conflict of interest statement

The authors have no funding and conflicts of interest to disclose.

Figures

Figure 1
Figure 1
(A) Abnormal signal intensity due to necrosis of the caudate and putamen, diffuse brain involvement with cortical and subcortical white matter, and the infratentorial regions; (B) partial improvement at 2 months of treatment; (C) complete resolution at 6 months of treatment.
Figure 2
Figure 2
Pedigree of the extended family of the index case.
See this image and copyright information in PMC

References

    1. Alfadhel M, Almuntashri M, Jadah RH, et al. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis 2013; 8:83. - PMC - PubMed
    1. Ozand PT, Gascon GG, Al Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998; 121:1267–1279. - PubMed
    1. Perez-Duenas B, Serrano M, Rebollo M, et al. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics 2013; 131:e1670–e1675. - PubMed
    1. Yamada K, Miura K, Hara K, et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet 2010; 11:171. - PMC - PubMed
    1. Kono S, Miyajima H, Yoshida K, et al. Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. N Engl J Med 2009; 360:1792–1794. - PubMed

Publication types

Supplementary concepts