Fig. 30.1
Bilateral ptosis and external ophthalmoplegia in Kearns-Sayre Syndrome: bilateral partial ptosis (a) with restriction of ocular movements in all directions of gaze as patient attempts to look up (b) down (c) left (d) and right (e)
Investigations
The results of blood, cardiac, neuro-imaging and muscle investigations are summarised in Table 30.1.
Table 30.1
Investigations in a teenager with ophthalmoplegia and pigmentary retinopathy
Investigation | Value (reference range) |
|---|---|
Blood lactate | 4.3–6.9 mmol/L(<1.65) |
Creatine kinase | 137 IU/L (26–140) |
Plasma glucose | 4.9 mmol/l (3.9–5.8) |
Plasma alanine | 819 μmol/L (225–560) |
Plasma acylcarnitine profile | Normal profile |
TSH | 1.16 mIU/L (0.27–4.20) |
Free T4 | 15.1 pmol/L (12.0–22.0) |
ECG | Normal sinus rhythm |
Echocardiogram | Normal cardiac structure and function |
MRI brain | Normal intracranial appearances, with no evidence of brain atrophy or white matter lesions
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