Li Y
China
Case Report
Clinical Diagnosis and Treatment of 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency in One Infant: A Case Report
Author(s): Cui Y, Wang X, Li Y, Wei D, Dongmei J and Wang HCui Y, Wang X, Li Y, Wei D, Dongmei J and Wang H
Objective: We reviewed the clinical manifestations and examination results of one infant with 2-methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD), intending to enhance the understanding, diagnosis and treatment of MHBD. Method: The clinical manifestations and results of laboratory tests, tandem mass spectrometry of the blood sample, gas chromatography-mass spectrometry of the urine sample, chest X-ray, color Doppler examination, brain MRI and EEG as well as the treatment of this case were analyzed retrospectively. Result: This infant, aged 3 years old, mainly presented the symptoms of diarrhea and vomiting initially, and later lethargy, disturbance of consciousness, dyspnea and incorrigible metabolic acidosis. Brain MRI indicated mild ventriculomegaly and widening of sulci bilaterally. Borderline EEG was observed, with several sharp wave discharges in the frontal and centr.. View More»
