Table 1 Clinical and biochemical characteristics of patients with Sengers syndrome-TIMM29

VI-8

F

2 m

s2m

4 m

8.2

NA

4 m

A few hours following cataract operation, she developed cardiorespiratory failure necessitating mechanical ventilation. Only then, CM was diagnosed. She died 2 days later with severe metabolic and lactic acidosis

VI-10

F

2nd d

–

–-

9.0

920

3d

Full term; Apgar 8/9; weight 3600gr; Age 2 h: apneic spells& cardiac arrest

VI-12

M

4 m

2 m

4 m

3.3

9469

11 m

The baby was diagnosed soon after birth due to previously affected siblings. He was severely hypotonic, and very alert. At age 8 month he sat unassisted

VI-14

F

3 m

3 m

3 m

NA

NA

4 m

Medical file not available. Cataract and CM were reported by the parents

VI-15

F

1st d

2 m

2 m

12.2

5,651

4 m

Early diagnosed due to previously affected sibling (case report VI-14, in supple)

VI-20

F

1st d

–

2 m

13/5

7800

3 m

She had no social eye contact (no cataract); elevated CSF lactate

VI-21

F

1st d

1d

2 m

24

3,122

5 m

Early diagnosis due to previous family history; had all S.S constituents;

VI-22

M

2nd d

2d

3 m

6.3/8.1

6,838

3 m

Presented at age 2d with tachypnea and lactic acidosis. CM was documented for the 1st time only one week prior to death at age 3 m'

VII-2

F

12 m

2 m

12 m

10

113

21 m

Had the longest longevity. Psychomotor development at age 13 m: very alert, severe hypotonia; could sit and stand unassisted, and walked with assistance. Spoke many wards with a faint voice

VII-3

M

1st d

–

–

7.8

2500

7 d

Premature; severe metabolic acidosis; died due to "neonatal sepsis"

VII-4

F

4 m

–

6 m

17.5

36,280

6 m

At age 4 m admitted for evaluation of FTT and absence of social eye contact, but no cataract. She had tachypnea, severe hypotonia and lactic acidosis. Markedly elevated serum CPK (rhabdomyolysis), with myoglobinuria. Mild C.M and poor left ventricle function recorded for the 1st time 4 h before death

VII-5

F

1st d

–

4 m

7.0/4.8

3600

5 m

Prematurity; Developmental delay and abnormal brain imaging (see supplements); Elevated CSF lactate; bilateral inguinal hernia;

VII-6

F

2 m

2 m

2 m

6.5

1933

2 m

Presented at age 2 months with all clinical constituents of seemingly S.S. She died 24 h after diagnosis of C.M of cardiorespiratory failure

VII-10

M

2d

–

2d

13.1/1.6

985

9d

Full term. Presented at age 24 h with hypotonia, cyanosis, and tachypnea necessitating mechanical ventilation. Echocardiography: sparkling of cardiac muscle. Elevated blood lactate 13.2, normal in CSF

VII-11

F

–

2 m

–

13.2

NA

4 m

There was no evidence of hypotonia nor cardiomyopathy prior to cataract extraction age 4 m'. “Crib death” was reported one week following operation

2009

F

1d

–

7d

12.8

4130

13d

Apgar 9/10; respiratory failure age 1d'; CM age 7d'; died age 13d;