Kearns–Sayre syndrome: a case series of 35 adults and children

Figures & data

Table 1 Patient disease characteristics

Pt/sex/age at presentation/age at diagnosis (yrs)	Method of diagnosis	Follow up (yrs)	Death	PEO	Pigmentary retinopathy	Heart block	Cerebellar ataxia	CSF protein (mg/dL)
1/M/10/10	Muscle biopsy	1	N	Y	N	N	N	…
2/F/36/38	mtDNA	8	N	Y	N	N	N	…
3/M/16/17	mtDNA	2	N	Y	Y	Y	N	…
4/M/15/16	Clinical	4	N	Y	Y	N	N	…
5/M/20/59	mtDNA	17	N	Y	Y	Y	N	…
6/M/9/9	mtDNA	17	N	Y	Y	N	Y	…
7/F/?/62	Clinical	13	N	Y	N	N	N	…
8/M/17/35a	mtDNA	7	Y	Y	N	Y	N	…
9/F/9/9	Muscle biopsy	7	N	Y	Y	N	Y	…
10/M/14/14	mtDNA	4	N	Y	Y	N	N	1
11/M/18/18	mtDNA	17	N	Y	Y	Y	N	…
12/M/?/33	Clinical	19	N	Y	Y	Y	N	…
13/M/39/45	Clinical	1	N	Y	N	N	Y	…
14/F/2/9	mtDNA	4	N	Y	Y	Y	Y	177
15/F/7/43	Muscle biopsy	7	N	Y	N	N	Y	…
16/M/10/17	Muscle biopsy	7	N	Y	Y	N	N	…
17/F/?/27	mtDNA	25	N	Y	Y	N	Y	…
18/M/?/13	Clinical	1	N	Y	N	N	Y	…
19/F/26/42	mtDNA	15	Y	N	Y	N	Y	33
20/M/22/40	Clinical	5	N	Y	Y	Y	N	97
21/M/21/34	mtDNA	4	N	Y	Y	N	N	…
22/M/29/35	Clinical	10	N	Y	Y	N	N	…
23/M/15/20	Clinical	24	N	Y	Y	Y	Y	…
24/M/10/16	Clinical	10	N	Y	Y	Y	N	…
25/M/?/35	Clinical	31	N	Y	Y	Y	N	…
26/M/?/11	Clinical	1	N	Y	Y	N	Y	…
27/F/9/25	Muscle biopsy	12	N	Y	Y	N	Y	266
28/M/?/17	Clinical	25	N	Y	Y	N	N	…
29/M/9/16	Clinical	1	N	N	Y	N	N	…
30/M/5/12	Clinical	10	N	Y	Y	Y	Y	…
31/M/8/10	Clinical	3	N	Y	Y	N	N	…
32/F/?/18	Clinical	31	Y	Y	Y	N	Y	37
33/F/40/40	Muscle biopsy	13	Y	Y	N	N	Y	…
34/M/30/33	Muscle biopsy	6	N	Y	N	N	Y	…
35/F/20/41	mtDNA	15	N	Y	Y	N	Y	…

Note:

a All patients were white, except for patient 8, who was African American.

Abbreviations: CSF, cerebrospinal fluid; F, female; M, male; mtDNA, mitochondrial DNA; PEO, progressive external ophthalmoplegia; Pt, patient; ?, unknown; …, no data; yrs, years.

Table 2 Patient characteristics and presenting symptoms

Characteristic	No of patients (%) (N=35)
Demographic features
Male	24 (69)
Symptom onset before age 20 years	19 (54)
Family history of any mitochondrial disorder	1 (3)
Family history of KSS	0 (0)
KSS criteria documented in medical record	28 (80)
Presenting symptoma
Ophthalmologic
Ptosis	16 (46)
Other visual disturbance	6 (17)
Neurologic
Weakness	4 (11)
Ataxia	1 (3)
Hearing loss	1 (3)
Endocrine
Delayed puberty	1 (3)
Single symptom, not specified	6 (17)

Note:

a Major presenting symptoms leading to the diagnosis of KSS.

Abbreviation: KSS, Kearns–Sayre syndrome.

Table 3 Clinical and cardiovascular features and ECG abnormalities developing during follow up

Feature	No of patients (%) (N=35)
Clinical features
Death	4 (11)
Ophthalmologic
External ophthalmoplegia	31 (89)
Ptosis	30 (86)
Ptosis surgery	17 (49)
Pigmentary retinopathy	25 (71)
Visual loss	10 (29)
Neurologic
Weakness	27 (77)
Ataxia	16 (46)
Dysphagia	11 (31)
Cognitive decline	11 (31)
Deafness	14 (40)
Dysarthria	5 (14)
Seizure disorder	5 (14)
Endocrine
Diabetes mellitus	5 (14)
Hypothyroid	3 (9)
Adrenal insufficiency	2 (6)
Cardiovascular features
Syncope	6 (17)
Dilated cardiomyopathy	6 (17)
Previous cardiac arrest	5 (14)
Sudden cardiac death	4 (11)
PPM/ICD	11 (31)
PPM/ICD indication
Bradycardia	2 (18)
High‐grade heart block	4 (36)
Bradycardia with heart block	2 (18)
Wide QRS	1 (9)
Unclear indication	2 (18)
ECG changes
Heart block	11 (31)
First‐degree	7 (64)
Second‐degree type II	2 (18)
Second‐degree type I	1 (9)
Third‐degree	1 (9)
Conduction delays	23 (66)
Intraventricular conduction delay	12 (52)
Right bundle branch block	5 (22)
Fascicular block	4 (17)
Left bundle branch block	2 (9)
Axis deviation	10 (29)
Left	8 (80)
Right	2 (20)
Preexcitation (Wolff–Parkinson–White)	2 (6)

Notes: The denominator for the percentages under PPM/ICD indications is the total number of PPM/ICDs implanted (N=11). The denominator for the percentages of the types of heart block is N=11. The denominator for the percentages under conduction delays is N=23. The denominator for the percentages under axis deviation is N=10.

Abbreviations: ECG, electrocardiographic; PPM/ICD, permanent pacemaker/implantable cardioverter-defibrillator.

Table 4 Associations between clinical features and development of disability

Clinical feature	Need for gait aid or wheelchair		P-valuea
	No	Yes
Sex			0.69
Male	18	6
Female	7	4
Diagnosis			0.38
KSS	21	7
KSS minus	4	3
Genetic defect			>0.99
Present	9	3
Unknown/absent	16	7
Muscle defect			0.47
Present	11	6
Unknown/absent	14	4
Deafness			0.70
Present	11	3
Absent	14	7
Cognitive decline			0.004
Present	4	7
Absent	21	3
Sudden cardiac death			0.56
Present	2	2
Absent	23	8

Note:

a Fisher’s exact test.

Abbreviation: KSS, Kearns–Sayre syndrome.