De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report

Table 1 General situation and clinical features of our case and 12 previously reported cases

	Ref.	Gender	Nationality	NAXEvariation	Age at onset	Age at death	Inducement	Clinical characteristics	MRI features
1	This study	F	China	p.Lys245Gln; p.Gly124Cys	2 yr 10 mo	3 yr	Fever	Respiratory insufficiency, motor regression, poor eye contact, hypotonia, dysphagia, nystagmus, drowsiness, bilateral ptosis	Cerebellar edema, myelopathy
2	[1]	M	China	p.Glu85Asp; p.Gly121Arg	2 yr	Unknown	Fever/infection	Decreased muscle tone of the extremities, weakening abdominal wall reflex and cremaster reflex, unsteady walking, finger-nose test and Romberg sign positive	Brain atrophy
3	[6]	M	Iran	p.Gly189Ser	2 yr	3 yr	Unknown	Neuromotor development and cognitive regression, unclear speech, uncoordinated hand movement, nystagmus, poor coordination, impaired finger–nose test, increased lactic acid in cerebrospinal fluid	Bilateral temporal cortex, basal ganglia lesions
4	[2]	M	Turkey	p.Arg129Pro; p.Ile214Ser	1.5 yr	3 yr	Unknown	Cognitive impairment, axial dystonia, quadriplegia, strabismus, increased deep tendon reflex of lower extremities, ankle clonus, bilateral Babinski sign positive	Not significant
5-1	[5]	F	Germany	c.665-1G>A; p.Gly253Ser	22 yr	> 29 yr	Unknown	Recurrent illness, initial headache, respiratory insufficiency, developmental disabilities, seizures, myoclonus, comatose state, cerebellar ataxia, spastic quadriplegia, dysarthria, dysphagia, cervical dystonia, non-infectious fever, psychiatric symptoms	Not significant
5-2	[5]	F	Germany	c.665-1 G>A; p.Gly254Ser	20 yr	22 yr	Alcohol, cannabis	Recurrent illness, initial headache, respiratory insufficiency, comatose state, cerebellar ataxia, cognitive impairment, myoclonus, nystagmus, diplopia, neuropsychiatric symptoms, hypokinesia	Not significant
6	[5]	M	Saudi Arabia	p.Lys245Gln	Unknown	Unknown	Unknown	Respiratory insufficiency, progressive motor development delay, dystonia, septicemia	Unknown
7	[5]	M	Jordan	p.Asp218Asn	1 d	Unknown	Unknown	Respiratory insufficiency, coma, developmental disabilities, hypodystonia, strabismus, bradycardia, decreased serum creatinine, hypoventilation, thrombocytosis, mitral regurgitation	White matter abnormalities, brainstem MRI signal intensity abnormalities, intracranial hemorrhage, brain atrophy
8	[5]	M	India	p.Ile214Val	Unknown	Unknown	Unknown	Developmental disabilities, elevated lactic acid in cerebrospinal fluid, pigmented retinopathy, elevated serum creatine phosphokinase
9	[3]	M	Gambia	p.Tyr59Ter	20 mo	21 mo	Fever/infection	Recurrent illness, respiratory insufficiency, coma, ataxia, seizures, bullous dermatosis, elevated lactic acid in cerebrospinal fluid and blood, quadriplegia, nystagmus, torticollis	Cerebral edema, myelopathy
10	[3]	F	Croatia	p.Gln66*, c.516+1G>A	15 mo	2 yr	Fever/infection	Recurrent 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]	M	Germany	p.Lys270del	16 mo	18 mo	Fever/infection	Rapid progression, respiratory insufficiency, progressive ataxia, developmental disabilities, coma, elevated cerebrospinal fluid lactic acid, nystagmus, bilateral ptosis	Cerebral edema
12-1	[3]	M	Poland	p.Asp218Val; p.Ala248fs	16 mo	29 mo	Unknown	Recurrent illness, respiratory insufficiency, coma, ataxia, dystonia, focal redness, skin changes in psoriasis of the neck, increased lactic acid in cerebrospinal fluid, dysarthria, nystagmus	Cerebral edema
12-2	[3]	M	Poland	p.Asp218Val; p.Ala248fs	8 mo	2 yr	Unknown	Recurrent illness, respiratory insufficiency, coma, seizures, dystonia, elevated lactic acid in cerebrospinal fluid	Brain dysplasia, acute hydrocephalus

F: Female; M: Male; MRI: Magnetic resonance imaging.