Report

Yamashina 1990 [13]

Motoyama 1992 [14]

Nevo 2013 [12]

Ben-Zeev 2015[4]

HOchsmann 2014 [3]

Haliloglu 2015 [5]

Yamathina 1950

current report

Patient#

1

2-6

11/12

7

8-10

13

2

Ethnic Origin

Japanese

North African Jewish, 4 families

North African Jewish, 1 family

Turkish

Turkish. 1 family

Turkish

Bahraini

Consanguinity

Yes

1/5 Yes

No

yes

yes

Yes

yes

Mutation

compound heterozygous p.V21425etts 38; pAla121C1nfs

homozygous

c.266 G > A p.Cys89Tyr

homozygous

c.266 G > A p.Cys89Tyr

homozygous c.146delA, p.Asp49Valfs × 31

homozygous c.146delA, p.Asp49Valfs × 31

homozygous c.146delA, p.Asp49Valfs × 31

Homozygous c.323C > A(p.Ser108*)

Onset of disease

13 yrs

3.7 mo

3.5 mo

7 mo

6.11 mo

1 mo

Case1:11 mo

Case2:20 mo

Hemolysis

yes. chronic and acute

yes

yes

yes

no/yes, chronic/yes acute & chronic

Yes, chronic and acute

not reported

Coombs test

not reported

not reported

not reported

not reported

Negative

intermittently positive

Negative

Peripheral neurological disease

not reported

Most sensory,

recurrent 4/5 demyelinated secondary axonal (CIPD), 1/5 primary axonal

recurrent peripheral demyelinating neuropathy with conduction block (CPD)

demyelinating neuropathy with secondary axonal damage

3/3 primary recurrent axonal polyneuropathy, 1/3 secondary demyelination in later course, 2/3 gadolinium enhancement of dorsal roots

Recurrent-remitting, steroid-responsive demyelinated with conduction block

Relapsing peripheral demyelinating neuropathy with secondary axonal damage

Central neurological disease

cerebral infarction

not reported

Recurrent cerebral infarctions from age 18 mo and 5 y. retinal and optic nerve involvement

Possible brainstem infarction versus encephalitis (MRI) at age 18 mo

1/3 supratentorial stroke at age 5 yrs; 1/3 infratentorial hemorrhagic stroke and occlusion of PICA at age 18 mo; 1/3 no stroke up to age 4.5y

Recurrent supratentorial infarctions from age 6 y, small vessel endothelial damage, large vessel enhancement, moyamoya

ventricular dilatation and brain atrophy, cerebellar atrophy, encephalomalacia and recurrent cerebral infarctions from age 20mo and 3 y. retinal and optic nerve involvement

Others

1/5 HUS like disease w/renal atypical failure glomenaloneplums. necrotic fingers steroids

atypical glomerulonephritis, necrotic fingers

2/3 phototherapy as newborn necessary

Case1: angioedema

Case2: vision loss

Treatment

not reported

IVIG, Plasmapheresis, steroids, ritunoximab, cyclosporin

IVIG, steroids

IVIG, plasmapheresis. eculizumab

not reported/IVIG/IVIG & eculizumab

IVIG, steroids, azathioprine, MMF, rituximab, cyclophosphamide

Carbamazepine/ L-Carnitine and Coenzyme Q10, Keppra

Topamax

Biotin, Riboflavin

Outcome

n/a

4 alive around 5 yrs of age, 1 deceased at 3.5 yrs

deceased at age of 8 and 2.5 yrs

5 yrs, improvement under eculizumab therapy

deceased at age 16/alive around 10 yrs with mild cognitive impairment/alive around 5 yrs with global developmental delay

Deceased at age 8 years

Deceased at age 12 and 6