scholarly journals COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1

Author(s):  
Tanyel Zubarioglu ◽  
Saffa Ahmadzada ◽  
Cengiz Yalcinkaya ◽  
Ertugrul Kiykim ◽  
Cigdem Aktuglu-Zeybek

Abstract Objectives The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1). Case presentation A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease. She had lethargy, hypotonia, and choreoathetoid movements. In terms of COVID-19 encephalopathy, the reverse transcription-polymerase chain reaction assay test for COVID-19 was negative in cerebral spinal fluid. Brain imaging showed frontotemporal atrophy, bilateral subcortical and periventricular white matter, basal ganglia, and thalamic involvement. Elevated glutarylcarnitine in plasma and urinary excretion of glutaric and 3-OH-glutaric acids was noted. A homozygote mutation in the glutaryl-CoA dehydrogenase gene led to the diagnosis of GA-1. Conclusions With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature.

2020 ◽  
Vol 7 (S3) ◽  
Author(s):  
Olga Ulmanová ◽  
Lisette H. Koens ◽  
Helena Jahnová ◽  
Jeroen J. Vries ◽  
Tom J. Koning ◽  
...  

2018 ◽  
Vol 8 ◽  
pp. 50
Author(s):  
Heena Rajani ◽  
Shabnam Bhandari Grover ◽  
Neha Antil ◽  
Amit Katyan

We report the characteristic neuroimaging features of a rare metabolic leukodystrophy in an 8-year-old boy, born of consanguineous parenthood. The child presented with macrocrania, regression of milestones, and dystonia. The patient was referred for magnetic resonance imaging with a clinical diagnosis of postmeningitic hydrocephalus. Imaging revealed ventriculomegaly, diffuse brain atrophy, bilaterally symmetric widened sylvian fissure with temporal lobe hypoplasia, periventricular white-matter hyperintensities, and atrophy with hyperintensity in bilateral basal ganglia was also seen. These imaging features were signatory to arrive at a diagnosis of glutaric aciduria type 1. This disorder may mimic other neurological diseases such as postmeningitic hydrocephalus, which delays the diagnosis. Since early diagnosis and treatment can arrest progression, increased awareness about this condition among radiologists will certainly prevent erroneous diagnosis as had occurred in our patient.


2006 ◽  
Vol 16 (2) ◽  
pp. 188-191 ◽  
Author(s):  
JOAQUIN HERNANDEZ-PALAZON ◽  
LORENZO SANCHEZ-RODENAS ◽  
JUAN F. MARTINEZ-LAGE ◽  
ISABEL CASTANO COLLADO

1994 ◽  
Vol 10 (3) ◽  
pp. 198-203 ◽  
Author(s):  
Juan F. Mart�nez-Lage ◽  
Carlos Casas ◽  
Maria Asunci�n Fern�ndez ◽  
Alberto Puche ◽  
Trinidad Rodriguez Costa ◽  
...  

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