Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome

Table 2

Crucial investigations carried out during the disease trajectory.

Date/age	Investigation	Result
2000, 30 years	Echocardiography	“Pulmonary insufficiency”
1.1.06	Lumbar puncture	Protein 167 mg/dl, otherwise normal
3.1.06	EEG	Normal
3.1.06	Lumbar puncture	Protein 107 mg/dl, otherwise normal
5.1.06, 35 years	Nerve conduction studies	Normal
4.1.06, 36 years	Cerebral MRI	T2-hyperintensities, subcortical, mesencephalon, DWI, ADC hyperintense enlarged pituitary gland, sinusoidal polyposis
12.1.06	Neuropsychological testing	Attention deficit, disability of encoding visual contents, adjustment disorder, and depression
13.1.06	Cerebral MRI	Unchanged to previously
17.1.06	Lumbar puncture	Protein 152 mg/dl, otherwise normal
1/2006	Ophthalmologic investigation	Strabism, fundus tabulates, AM atrophy, papillary excavation
24.2.06	Cerebral MRI	Band-like T2-, DWI-, ADC-hyperintensities in the ML and mesencephalon bilaterally
2.1.06	Abdominal ultrasound	Normal
1/06	Lumbar puncture	Protein 167 mg/dl
16.12.06	Ophthalmologic investigation	Pigmentary epithelium shifts, retinal dystrophy, rod/cone degeneration (RP suspected)
8/07	Muscle biopsy (deltoid)	Fat, no muscle
12.9.07	CK	2673 U/L (rhabdomyolysis)
10.8.07	Myoglobin	152 ng/ml (n, 19–92 ng/ml)
2.8.07	X-ray of the lungs	Normal width of aorta
6.8.07	Echocardiography	Normal
8.8.07	Liver enzymes	Elevated
9.8.07	Abdominal CT	Multiple liver cysts
13.8.07	Muscle biopsy	No muscle tissue, only fat
13.2.08	Muscle MRI	Chondroma right femur
19.2.08, 38 years	Muscle biopsy (left lateral vastus)	Indicates mitochondrial myopathy
15.12.08	Cerebral MRI	Cerebellar atrophy
19.12.08	Needle electromyography	Increased polyphasia exclusively

WMLs: white matter lesions, RP: retinitis pigmentosa.