title: [Limb torsion and developmental regression for one month after hand, foot and mouth disease in an infant].
abstract: A one-year-old girl visited the hospital due to limb torsion and developmental regression for one month after hand, foot and mouth disease. At the age of 11 months, she visited a local hospital due to fever for 5 days and skin rash with frequent convulsions for 2 days and was diagnosed with severe hand, foot and mouth disease, viral encephalitis, and status epilepticus. Brain MRI revealed symmetric abnormal signals in the bilateral basal ganglia, bilateral thalamus, cerebral peduncle, bilateral cortex, and hippocampus. She was given immunoglobulin, antiviral drugs, and anticonvulsant drugs for 2 weeks, and the effect was poor. Blood and urine screening for inherited metabolic diseases were performed to clarify the etiology. The analysis of urine organic acids showed significant increases in glutaric acid and 3-hydroxyglutaric acid, which suggested glutaric aciduria type 1, but her blood glutarylcarnitine was normal, and free carnitine significantly decreased. After the treatment with low-lysine diets, L-carnitine, and baclofen for 1 month, the patient showed a significant improvement in symptoms. Hand, foot and mouth disease is a common viral infectious disease in children, and children with underlying diseases such as inherited metabolic diseases and immunodeficiency may experience serious complications. For children with hand, foot and mouth disease and unexplained encephalopathy, inherited metabolic diseases should be considered.
authors.affiliation: Department of Endocrinology and Metabolism, Wuhan Medical and Healthcare Center for Women and Children, Wuhan 430015, China. cxhdaifu@163.com.
authors.forename: Li-Fang
authors.initials: LF
authors.lastname: Feng
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Chen
authors.forename: Dong-Xiao
authors.initials: DX
authors.lastname: Li
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ding
authors.forename: Ying
authors.initials: Y
authors.lastname: Jin
authors.forename: Jin-Qing
authors.initials: JQ
authors.lastname: Song
authors.forename: Yan-Ling
authors.initials: YL
authors.lastname: Yang
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000209:etiology; D001928:Brain Diseases, Metabolic / Q000209:etiology; D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency; D006232:Hand, Foot and Mouth Disease / Q000150:complications*; D006801:Humans; D007223:Infant; D014102:Torsion Abnormality / Q000209:etiology*
chemical_list: D050770:Glutaryl-CoA Dehydrogenase