Table 3 Comparisons of signs and symptoms in reviewed patients

Perry et al. (2001) [11]

M (s)

49 days

Yes

–

–

–

Yes

67 days

–

F (s)

26 days

Yes

–

–

–

Yes

67 days

–

M

25 days

Yes

–

–

–

Yes

67 days

–

Santos et al. (2018) [4]

M

60 days

Yes

Yes

Yes

–

Yes

5 months

[LIPA] c.966 + 2T > G-intron 9 (in homozygosity)

F

4 months

–

Yes

No

–

Yes

6 months

LIPA gene (c.509C > A (p.S103R)/c.796G > T(p.G266X),)

Taurisano et al. (2014) [3]

F

4 months

No

Yes

Yes

Yes

Yes

5 months

Yavas et al. (2015) [13]

F

2 months

–

Yes

Yes

Yes

Yes

3 months

Exon 4 heterozygous

location c:260G > T (GGC > GTC), p.Gly87Val

Elsayed et al. (2015) [14]

M

2.5 months

Yes

Yes

Yes

–

Yes

Not known

homozygous G969A (W130X) mutation

F

3 months

Yes

Yes

Yes

–

Yes

Not known

homozygous c.438delC (p.S112X)

M

3 months

Yes

Yes

Yes

–

Yes

Not known

c.G969A (p.W289X)

Tinsa et al. [15] (2018)

F

3 months

Yes

Yes

Yes

No

Yes

4 months

exon 3: NM_000235.3: c.153 C > A (p.Tyr51*)

Rabah et al. [16] (2014)

M

2 months

Yes

Yes

–

Yes

3 months

Not found

Alabbas et al. [17] (2021)

M

4 months

Yes

Yes

Yes

–

Yes

4 months

(428 + 1_967-1)_(*1_?)del in the LIPA gene (NM_000235.3; chr.10):

Present case (2021)

M

4.5 months

Yes

No

Yes

Yes

Yes

5 months

exon4:c.G353A:p.G118D, CADD: 32