Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

Table 1

Clinical and laboratory features of the two patients with Kearns–Sayre syndrome.

Affected systems	Features	Case 1	Case 2
Clinical features
Growth	Short stature	−2.8 SD for height	−2.6 SD for height
	Failure to thrive	−2.5 SD for weight	−2.5 SD for weight
Audiology	Sensorineural hearing loss	Severe to profound	Severe
Endocrinology	Abnormal glucose status	Ketotic hypoglycaemia with glucose 1.9 mmol/L	Diabetic ketoacidosis with glucose 32.8 mmol/L
	Hypoparathyroidism	Not affected	PTH 0.56 pmol/L (1.3–9.3pmol/L), iCa 0.93 (1.2–1.4 mmol/L), Ca 1.6 mmol/L (2.1–2.5 mmol/L), PO4 1.78 mmoL/L (1.12–1.45 mmol/L)
Ophthalmology	Retinopathy	Not affected	Pigmentary retinopathy, retinal atrophy
	Ophthalmoplegia	Progressive external ophthalmoplegia	Not affected
Musculoskeleletal	Eye muscles	Ptosis	Not affected
	Skeletal muscles	Not affected	Generalised muscle weakness
Laboratory features
Urine x metabolic screening		Generalised aminoaciduria, lactic acid, 3-hydroxy proprionic, 3-hydroxyisovaleric acid, and tiglylglycine	No abnormalities
Lactate	Raised lactate	2.6–8.9 mmol/L	Not raised