Annals of Indian Academy of Neurology
IMAGES IN NEUROLOGY
Year
: 2006  |  Volume : 9  |  Issue : 4  |  Page : 249--250

Kearns-sayre syndrome


MV Vidya, Thamburaj Krishnamoorthy, Abraham Kuruvilla 
 Departments of Neurology and Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum - 695 011, India

Correspondence Address:
M V Vidya
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum - 695 011
India




How to cite this article:
Vidya M V, Krishnamoorthy T, Kuruvilla A. Kearns-sayre syndrome.Ann Indian Acad Neurol 2006;9:249-250


How to cite this URL:
Vidya M V, Krishnamoorthy T, Kuruvilla A. Kearns-sayre syndrome. Ann Indian Acad Neurol [serial online] 2006 [cited 2020 Sep 18 ];9:249-250
Available from: http://www.annalsofian.org/text.asp?2006/9/4/249/29211


Full Text

A 25-year-old man presented with altered sensorium following a febrile illness. He had bilateral drooping of eyelids and ataxia from 19 years of age, mild motor developmental delay and subnormal intelligence from childhood. Examination revealed bilateral pes cavus and dorsal scoliosis. Cranial nerve examination showed bilateral ptosis with external ophthalmoplegia and mild bifacial weakness. Optic fundi revealed bilateral retinitis pigmentosa. Motor system examination revealed symmetrical distal wasting and weakness of all limbs with sluggish deep tendon reflexes. Plantar response was flexor type. There were bilateral cerebellar signs.

Magnetic resonance imaging (MRI) of the brain showed midbrain and cerebellar atrophy and periaqueductal gliosis [Figure 1]. MR spectroscopy (MRS) showed lactate peak in the periaqueductal region [Figure 2]. CSF showed slightly elevated proteins without any pleocytosis. His sensorium improved with treatment of respiratory infection.

 Discussion



The clinical and MRI picture of our patient is consistent with Kearns-Sayre syndrome (KSS), a mitochondrial disorder. MR abnormalities described in KSS include diffuse cerebral and cerebellar atrophy, hyper intensities of the peripheral white matter and deep white matter. Deep grey matter and periaqueductal involvement has also been described in KSS.[1],[2] The MRI abnormality in our patient was characterized by midbrain and cerebellar atrophy with periaqueductal gliosis. MR abnormalities reflect necrosis /spongiform changes seen on histopathology. MR spectroscopy in this condition shows increased CSF and brain lactate as observed in our patient. The presence of CNS lactate correlates highly with other markers for mitochondrial dysfunction that have been used in establishing the diagnosis.[3] In addition, some patients lacking genetic, biochemical or pathologic confirmation of the diagnosis may have increased MRS lactate levels, suggesting that MRS may be the sole laboratory marker of the disorder.[3]

References

1Wray SH, Provenzale JM, Johns DR, Thulborn KR. MR of the brain in mitochondrial myopathy. AJNR Am J Neuroradiol 1995;16:1167-73.
2Junko A, Yuzo T. Leigh syndrome: Serial MR imaging and clinical follow-up. Am J Neuroradiol 2000 ; 21:1502-9.
3 Lin DD, Crawford TO, Barker PB. Proton MR Spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. AJNR Am J Neuroradiol 2003;24:33-41.