ABSTRACT
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) 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. BTRBGD is caused by mutations in the SLC19A3 gene on chromosome 2q36.6, encoding human thiamine transporter 2 (hTHTR2). Episodes of BTRBGD are often triggered by febrile illness. CASE REPORT: The patient was 2 years 10 months old male child presented with fever and progressive acute encephalopathy associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus infection. MRI revealed bilateral symmetrical high signal involving both basal ganglia and medial thalami which is swollen with central necrosis, initially diagnosed as acute necrotizing encephalomyelitis with increased severity. Genetic analysis revealed BTRBGD. CONCLUSION: BTRBGD requires high index of suspicion in any patient presenting with acute encephalopathy, characteristic MRI findings (that are difficult to differentiate from necrotizing encephalopathy), regardless of the existence of a proven viral infection.
Subject(s)
Basal Ganglia Diseases/complications , Basal Ganglia Diseases/diagnosis , COVID-19/complications , Acute Febrile Encephalopathy/diagnosis , Acute Febrile Encephalopathy/etiology , Basal Ganglia , Basal Ganglia Diseases/virology , Biotin/genetics , Brain/metabolism , COVID-19/virology , Child, Preschool , Genetic Testing , Humans , Magnetic Resonance Imaging , Male , Membrane Transport Proteins/genetics , Mutation , SARS-CoV-2/pathogenicity , Thiamine/geneticsABSTRACT
BACKGROUND: Fahr's syndrome (or Fahr's disease) is a rare, neurological disorder characterized by bilateral calcification in the cerebellum, thalamus, basal ganglia, and cerebral cortex as a result of calcium and phosphorus metabolism disorder. The patients may be asymptomatic and clinical symptoms represent a wide range of neurologic manifestations and nonspecific neuropsychiatric disorders. We report an unusual case of Fahr's syndrome which was asymptomatic and incidentally diagnosed by generalized tonic-clonic seizure in a patient with SARS-CoV-2 (COVID-19) pneumonia. CASE PRESENTATION: The patient was a 68-year-old female and admitted to our emergency department suffering from cough and fatigue. After thorax computed tomography (CT) and SARS-CoV-2 PCR test, she was diagnosed as COVID-19 pneumonia. In the intensive care unit, the patient had a tonic-clonic convulsion starting from the left arm and spreading to the whole body. Fahr's syndrome was diagnosed after a cranial CT scan and blood metabolic panel test. CONCLUSIONS: As a result of the clinical, radiological, and biochemical evaluations, the patient was diagnosed incidentally as Fahr's syndrome associated with hypoparathyroidism. Seizures could be induced by hydroxychloroquine that was in the COVID-19 treatment or the inflammation caused by COVID-19 pneumonia. The association between the mortality of COVID-19 pneumonia and Fahr's syndrome is unknown which needs further research.