Case Report
Copyright ©The Author(s) 2023.
World J Clin Cases. May 16, 2023; 11(14): 3340-3350
Published online May 16, 2023. doi: 10.12998/wjcc.v11.i14.3340
Table 1 General situation and clinical features of our case and 12 previously reported cases

Age at onset
Age at death
Clinical characteristics
MRI features
1This studyFChinap.Lys245Gln; p.Gly124Cys2 yr 10 mo3 yrFever Respiratory insufficiency, motor regression, poor eye contact, hypotonia, dysphagia, nystagmus, drowsiness, bilateral ptosisCerebellar edema, myelopathy
2[1]MChinap.Glu85Asp; p.Gly121Arg2 yrUnknownFever/infectionDecreased muscle tone of the extremities, weakening abdominal wall reflex and cremaster reflex, unsteady walking, finger-nose test and Romberg sign positiveBrain atrophy
3[6]MIranp.Gly189Ser2 yr3 yrUnknownNeuromotor development and cognitive regression, unclear speech, uncoordinated hand movement, nystagmus, poor coordination, impaired finger–nose test, increased lactic acid in cerebrospinal fluidBilateral temporal cortex, basal ganglia lesions
4[2]MTurkeyp.Arg129Pro; p.Ile214Ser1.5 yr3 yrUnknownCognitive impairment, axial dystonia, quadriplegia, strabismus, increased deep tendon reflex of lower extremities, ankle clonus, bilateral Babinski sign positiveNot significant
5-1[5]FGermanyc.665-1G>A; p.Gly253Ser22 yr> 29 yrUnknownRecurrent illness, initial headache, respiratory insufficiency, developmental disabilities, seizures, myoclonus, comatose state, cerebellar ataxia, spastic quadriplegia, dysarthria, dysphagia, cervical dystonia, non-infectious fever, psychiatric symptomsNot significant
5-2[5]FGermanyc.665-1 G>A; p.Gly254Ser20 yr22 yrAlcohol, cannabisRecurrent illness, initial headache, respiratory insufficiency, comatose state, cerebellar ataxia, cognitive impairment, myoclonus, nystagmus, diplopia, neuropsychiatric symptoms, hypokinesiaNot significant
6[5]MSaudi Arabiap.Lys245GlnUnknownUnknownUnknownRespiratory insufficiency, progressive motor development delay, dystonia, septicemiaUnknown
7[5]MJordanp.Asp218Asn1 dUnknownUnknownRespiratory insufficiency, coma, developmental disabilities, hypodystonia, strabismus, bradycardia, decreased serum creatinine, hypoventilation, thrombocytosis, mitral regurgitationWhite matter abnormalities, brainstem MRI signal intensity abnormalities, intracranial hemorrhage, brain atrophy
8[5]MIndiap.Ile214ValUnknownUnknownUnknownDevelopmental disabilities, elevated lactic acid in cerebrospinal fluid, pigmented retinopathy, elevated serum creatine phosphokinase
9[3]MGambiap.Tyr59Ter20 mo21 moFever/infectionRecurrent illness, respiratory insufficiency, coma, ataxia, seizures, bullous dermatosis, elevated lactic acid in cerebrospinal fluid and blood, quadriplegia, nystagmus, torticollisCerebral edema, myelopathy
10[3]FCroatiap.Gln66*, c.516+1G>A15 mo2 yrFever/infectionRecurrent illness, respiratory insufficiency, coma, delayed psychomotor development, tremor, ataxia, dystonia, edema and erythema rash, elevated lactic acid in cerebrospinal fluid Cerebral edema, brain atrophy, myelopathy
11[3]MGermanyp.Lys270del16 mo18 moFever/infectionRapid progression, respiratory insufficiency, progressive ataxia, developmental disabilities, coma, elevated cerebrospinal fluid lactic acid, nystagmus, bilateral ptosisCerebral edema
12-1[3]MPolandp.Asp218Val; p.Ala248fs16 mo29 moUnknownRecurrent illness, respiratory insufficiency, coma, ataxia, dystonia, focal redness, skin changes in psoriasis of the neck, increased lactic acid in cerebrospinal fluid, dysarthria, nystagmusCerebral edema
12-2[3]MPolandp.Asp218Val; p.Ala248fs8 mo2 yrUnknownRecurrent illness, respiratory insufficiency, coma, seizures, dystonia, elevated lactic acid in cerebrospinal fluidBrain dysplasia, acute hydrocephalus