To investigate the clinical features, diagnosis and prognosis of Krabbe disease.

A child with Krabbe disease (patient 1) who was admitted to Gansu Provincial Maternity and Child-care Hospital on March 15, 2022 was selected as the research object. The clinical and imaging data were retrospectively analyzed, and the gene detection were performed on the patient 1 and her parents by next-generation sequencing technology. Using the retrieval strategy set in this study, the literature about Krabbe disease in domestic and foreign databases were reviewed. This study was in line with World Medical Association Declaration of Helsinki revised in 2013 and guardians informed and agreed to the diagnosis, treatment and genetic testing of the patient 1.

① Patient 1 was a 4-month-old girl who had the main clinical manifestations of paroxysmal fever, irritability, feeding difficulties, regression of motor development and increased muscle tone. Video electroencephalogram monitoring showed that there were many paroxysmal synchronous bursts and sporadic low-medium amplitude sharp waves and sharp-slow complex waves in the left frontal, frontal pole, central midline, middle and posterior temporal regions during sleep. Cranial MRI showed symmetrical abnormal signals in bilateral cerebellar hemispheres, bilateral posterior limb sets of internal capsule and bilateral lateral ventricles, showing long T1 and long T2 signals. The results of next-generation sequencing gene test showed that there were two heterozygous mutations in GALC gene of patient 1, namely, the splicing point mutation of c. 908+ 1(IVS8) G>A which was pathogenic mutation, and c. 194(exon1) G>A, which resulting in amino acid change of p. G65E. These two mutations were derived from her mother and father, respectively. Patient 1 was diagnosed with Krabbe disease (early-onset infantile type). No special treatments were given to patient 1. During the follow-up period, patient 1 mainly showed feeding difficulties, abnormal posture and recurrent respiratory tract infection, and died at 9 months of age. ② Results of literature review: a total of 7 pieces of literature related to Krabbe disease were retrieved from domestic and foreign databases, involving 11 children (patient 2-12), and patient 1 in this study, a total of 12 children with Krabbe disease. Their main manifestations were crying, feeding difficulties and regression of psychomotor development.

The main clinical manifestations of children with Krabbe disease are irritability, feeding difficulties, psychomotor retardation or regression. Cranial MRI showed bilateral symmetrical white matter or abnormal signal in the posterior limb of the internal capsule. GALC gene mutation is helpful for the diagnosis of the disease. There is no specific treatment for the disease, and the prognosis of the children with Krabbe disease is poor.