Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome

Table 1

Disease trajectory of the presented patient over 49 years of age.

Onset (age)	Manifestation	Therapy
Intrauterine	Premature birth (7 weeks earlier)	None
Birth	Congenital anisocoria	None
Infancy	Developmental delay	None
Infancy	Hypoacusis	Hearing devices since age 39
Childhood	Downslowing, chronic fatigue	None
Childhood	Sicca syndrome + recurrent conjunctivitis	Eye drops
Childhood	Recurrent respiratory infections	Antibiotics
Childhood	Recurrent herpetic infections, stomatitis	Virostatics
5 y	Painless desquamation of hands and feet	None
6 y	Ophthalmoparesis (first recognised)	None
7 y	Tetra-ataxia	None
18 y	Severe caries	Full prosthesis
27 y	Right-sided inguinal hernia	Bassini surgery
29 y	Sacral dermoidal cyst	Surgery
30 y	Bifascicular block	None
30 y	Erythema nodosa of feet	Steroids
35 y	Hyper-CKemia	None
35 y	Hyperuricemia	Diet
35 y	Hyponatremia, hypokalemia	NaCl, KCl
36 y	Somnolence, infection, suspected BE, SLE	Antibiotics, virostatics, endobolin, steroids
36 y	Suspected SLE	None
36 y	Elevated CSF protein	None
36 y	Dysarthria	None
36 y	Polyposis of nasal sinuses	None
36 y	Gait disturbance, falls	None
36 y	Neuropsychological deficits	Training
37 y	Arterial hypertension	Antihypertensives
37 y	Hepatopathy	None
37 y	Liver cysts	None
37 y	Rhabdomyolysis (CK: 2673 U/L)	None
38 y	Chondroma/fibroma of the right femur	None
38 y	Steatosis hepatis	None
44 y	Suspected SLE, Na↓, K↓, migraine	Analgesics
45 y	Fall, rib fracture, pneumothorax	Drainage
45 y	Diabetes	Antidiabetics
47 y	Cataract bilaterally	Surgery
49 y	Aortic ectasia	None

Left anterior hemiblock plus right bundle branch block, SLE: stroke-like episode, nr: not relevant, CSF: cerebrospinal fluid, BE: Bickerstaff encephalitis.