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 Journal of Rare Diseases

Waleed Al-Twaijri²  Wafaa Eyaid²  Ahmed Al Rumayan²  Mohammed Al Balwi¹  Hisham Al Shalaan²  Muhammad Talal Al Rifai²  Fahad A Bashiri³  Raafat H Jadah⁴  Makki Almuntashri¹  Majid Alfadhel² 

[1] King Abdullah International Medical Research Center, Riyadh, Saudi Arabia;College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia;Division of Pediatric Neurology, Department of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia;Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia

关键词: Neurometabolic;    Encephalopathy;    SLC19A3;    Thiamine;    Biotin;    Biotin-responsive basal ganglia disease;   

Others  :  863728
DOI  :  10.1186/1750-1172-8-83

 received in 2013-02-14, accepted in 2013-05-21,  发布年份 2013

【 摘 要 】

Background

Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. If left untreated with biotin, the disease can progress to severe quadriparesis and even death.

Method

A retrospective chart review of 18 patients with BBGD from two tertiary institutions describing their clinical, magnetic resonance imaging and molecular findings was conducted.

Result

Eighteen children from 13 families seen over a period of nine years (2003–2012) were included. (Age range: 14month to 23 years, M: F: 1:1). The clinical features included sub acute encephalopathy, ataxia (n= 18), seizures (n= 13) dystonia (n=12) ,dysarthria (n= 9), quadriparesis and hyperreflexia (n=9). Magnetic resonance imaging demonstrated abnormal signal intensity with swelling in the basal ganglia during acute crises (n= 13/13) and atrophy of the basal ganglia and necrosis during follow up (n= 13/13). One-third of the present patients showed the recurrence of acute crises while on biotin therapy alone, but after the addition of thiamine, crises did not recur. All of the patients have a homozygous missense mutation in exon 5 of the SLC19A3 gene. The frequency of acute crises, delay in diagnosis and initiation of treatment significantly influenced the outcome. On follow up, four patients died, two had spastic quadriplegia, six had normal outcome and the rest had speech and motor dysfunctions.

Conclusion

Clinicians should suspect BBGD in any child presenting with sub acute encephalopathy, abnormal movement and MRI findings as described above. Both biotin and thiamine are essential for disease management. Since biotin alone could not prevent the recurrence of crises in some patients, a more appropriate term to describe the disease would be biotin-thiamine-responsive basal ganglia disease (BTBGD).

【 授权许可】

   
2013 Alfadhel et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

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