scholarly journals Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report

2021 ◽  
Author(s):  
Ayed Al-Anezi ◽  
Vania Sotirova-Koulli ◽  
Osama Shalaby ◽  
Ahmed Ibrahim ◽  
Nehad Abdulmotagalli ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Basal Ganglia Disease

scholarly journals A case report of biotin–thiamine-responsive basal ganglia disease in a Saudi child

Medicine ◽  
2016 ◽  
Vol 95 (40) ◽  
pp. e4819 ◽  
Author(s):  
Mohammad F. Aljabri ◽  
Naglaa M. Kamal ◽  
Moinuddin Arif ◽  
Asrar M. AlQaedi ◽  
Enas Y.M. Santali
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Basal Ganglia Disease

scholarly journals Biotin-thiamine-responsive basal ganglia disease: A case report

2022 ◽  
Vol 17 (3) ◽  
pp. 753-758
Author(s):  
Shamaita Majumdar ◽  
Noriko Salamon
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Basal Ganglia Disease

scholarly journals Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance

2018 ◽  
Vol 5 ◽  
pp. 2329048X1877321 ◽  
Author(s):  
Muneera A. Alabdulqader ◽  
Sumayah Al Hajjaj
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Lower Limb ◽  
Gradual Improvement ◽  
Unsteady Gait ◽  
Disease Case ◽  
The Family ◽  
Basal Ganglia Disease ◽  
High Doses

Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia. The patient was treated with biotin and thiamine, and the family was instructed to continue these medications for life. When she was 7 years old, her supplements were stopped for 2 weeks for social reasons. Afterward, the patient began to have tremor in both hands and an unsteady gait. The family then resumed the medications at the usual dosages. However, the patient remained symptomatic. The patient was admitted with acute BTBGD because of discontinuation of medications. The patient’s condition was then managed with high doses of intravenous thiamine and oral biotin. She showed gradual improvement after 48 hours. She was then discharged home 1 week later with residual mild upper and lower limb tremor, as well as right lower limb dystonia. Further follow-up showed a good neurological condition with no apparent long-term sequel. The family was further educated about the importance of strict compliance. Conclusion: Patients with BTBGD should remain on lifelong treatment with thiamine and biotin. For those who present with acute relapse, we recommend inpatient treatment with high doses of intravenous thiamine and oral biotin. Further clinical research is required to determine the optimal doses and durations.

Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
F Distelmaier ◽  
P Huppke ◽  
J Schaper ◽  
E Morava ◽  
E Mayatepek ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Basal Ganglia ◽  
Leigh Syndrome ◽  
Basal Ganglia Disease

Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings

Neurology ◽  
2012 ◽  
Vol 80 (3) ◽  
pp. 261-267 ◽  
Author(s):  
B. Tabarki ◽  
S. Al-Shafi ◽  
S. Al-Shahwan ◽  
Z. Azmat ◽  
A. Al-Hashem ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Disease

scholarly journals Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

2017 ◽  
Vol 3 (6) ◽  
pp. a001909 ◽  
Author(s):  
Whitney Whitford ◽  
Isobel Hawkins ◽  
Emma Glamuzina ◽  
Francessa Wilson ◽  
Andrew Marshall ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Promoter Region ◽  
Compound Heterozygous ◽  
Basal Ganglia Disease

scholarly journals Depression in adult patients with biotin responsive basal ganglia disease

2016 ◽  
Vol 10 (4) ◽  
pp. 223-225 ◽  
Author(s):  
Dalal K. Bubshait ◽  
Asif Rashid ◽  
Mohammed A. Al-Owain ◽  
Raashda A. Sulaiman
Keyword(s):  
Basal Ganglia ◽  
Adult Patients ◽  
Basal Ganglia Disease

scholarly journals Complex phonic tic and disinhibition in Tourette syndrome: case report

2001 ◽  
Vol 59 (3A) ◽  
pp. 587-589 ◽  
Author(s):  
Débora Palmini Maia ◽  
Francisco Cardoso
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Basal Ganglia ◽  
Obsessive Compulsive Disorder ◽  
Tourette Syndrome ◽  
Limbic Cortex ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Behavioral Abnormalities ◽  
Motor Tics

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obscenities or swearing, is one type of complex vocal tic, present in 8% to 26% of patients. The pathophysiology of coprolalia and other complex phonic tics remains ill-defined. We report a patient whose complex phonic tic was characterized by repetitively saying "breast cancer" on seeing the son of aunt who suffered from this condition. The patient was unable to suppress the tic and did not meet criteria for obsessive compulsive disorder. The phenomenology herein described supports the theory that complex phonic tics result from disinhibition of the loop connecting the basal ganglia with the limbic cortex.

scholarly journals Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report

2019 ◽  
Vol 7 (12) ◽  
pp. 1483-1491
Author(s):  
Seiju Kobayashi ◽  
Kumiko Utsumi ◽  
Masaru Tateno ◽  
Tomo Iwamoto ◽  
Tomonori Murayama ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Family Members ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification ◽  
Longitudinal Observation
Sign in / Sign up

Export Citation Format

Share Document