ABSTRACT
@#Objective To investigate the clinical,brain MRI and MT-ATP6 gene variation characteristics of late-onset Leigh syndrome (LS). Methods The clinical data,brain imaging and genetic test results of two patients with late-onset Leigh syndrome in a family were collected in detail,and discussed in combination with the literature. Results The proband,male,9 years old,complained of "bilateral ptosis,unstable walking for half a year,abnormal mental behavior for 4 months".He was admitted to our hospital on April 10,2020.Patient was born normally,his physique and intelligence was worse that of his peers since childhood.Six months ago,the patient had bilateral ptosis and double vision,and he gradually developed unstable walking and difficulty in running.Brain MRI examination showed abnormal signals in bilateral basal ganglia and brain stem.4 months ago,he had intermittent nausea and vomiting,abnormal mental behavior without any inducement.Two months ago,he suddenly fell into a coma and twitched after catching a cold and fever.He was rescued and treated in a local hospital.His vital signs were stable and transferred to our hospital.Physical examination:short stature,thin physique,coma with eyes open.Bilateral ptosis covers more than half of the pupil,bilateral eyeball center fixation,dysphagia,nasal feeding diet.Muscle tension in the limbs was high,tendon reflex was active,and the limbs were flexing,Bilateral pathological signs were positive.Family history:the child's parents are not consanguineous marriage,the father is in good health,the mother is short and has a history of mental and behavioral abnormalities.The proband's brother,14 years old,was less developed than his peers.At the age of 7,he developed ptosis,unstable walking and no history of coma and convulsions.No ragged red fibers were found in skeletal muscle pathological biopsies of the proband and his brother.The mutation of MT-ATP6 gene 9176T>C was found by mitochondrial genome detection. Conclusions The clinical phenotype of late-onset Leigh syndrome is heterogeneous,which may be accompanied by mental and behavioral abnormalities and cognitive impairment.Brain MRI is characterized by abnormal signals in bilateral basal ganglia and midbrain periaqueductal region.Gene detection is an important basis for the diagnosis of Leigh syndrome.