Neurol India Home 

Year : 2021  |  Volume : 69  |  Issue : 4  |  Page : 1085--1086

Psychiatric Morbidities in Kearns Sayre Syndrome

Priti Arun, Ramandeep Kaur 
 Department of Psychiatry, Government Medical College and Hospital, Sector 32, Chandigarh, India

Correspondence Address:
Ramandeep Kaur
Department of Psychiatry, GMCH-32 Chandigarh

How to cite this article:
Arun P, Kaur R. Psychiatric Morbidities in Kearns Sayre Syndrome.Neurol India 2021;69:1085-1086

How to cite this URL:
Arun P, Kaur R. Psychiatric Morbidities in Kearns Sayre Syndrome. Neurol India [serial online] 2021 [cited 2021 Dec 3 ];69:1085-1086
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Full Text


Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy with an estimated prevalence of 1–9/100000.[1] Studies indicate that 70% patients of mitochondrial disorder will have evidence of mental illness at some point in their lives. Similarly, patients of KSS are found to have low intelligence quotient and cognitive decline which occurs over a period of time.[2] Unlike other mitochondrial disorders, KSS has not been found to be associated with any other psychiatric illnesses. We report a case of KSS who was diagnosed to have more than one psychiatric disorder that required clinical attention.

A 16-year-old boy presented to our Department of Psychiatry with complaints of repetitive hand washing 40–50 times a day, bathing thrice a day, washing chairs every time if touched by the maid, cleaning his bag, books, and shoes after returning from school owing to repetitive thoughts of being contaminated. The patient would recognize these thoughts to be his own, repetitive, intrusive, not express any distress in doing compulsive behaviors but would be very restless if stopped from doing it.

The patient also had history of premature birth and delayed milestones. In view of academic difficulties, he first came in contact with psychiatric services when he was eight years old and was diagnosed with dull average intelligence and specific learning disability for which he was enrolled in remedial education.

As a child, he was shy, quiet, and not very interactive. He was a slow learner, made a lot of mistakes in reading and writing, and did not perform well scholastically. He also had a gradual decline in understanding conversations, following commands and social participation as he grew older. The patient was enrolled in special school in class five and was tested again for intelligence quotient which came out to be dull average i.e., mean IQ –87 (2016).

At the age of 12 years, he started manifesting with physical symptoms such as difficulty walking and visual problems. He was investigated at another tertiary care center for myopathy and was diagnosed with KSS based on CEMRI which was suggestive of leukodystrophy involving white matter, brain stem, cerebellum, and visualized cord and histopathological examination of lateral vastalis muscle which showed features consistent with mitochondrial myopathy.

On examination, the patient was short statured, overweight, had bilateral lateral rectus paresis, weak orbicularis occuli, ptosis, visual acquity 6/18 in both eyes and retinitis pigmentosa on fundus examination. Neurologically, child had hypertonia, brisk reflexes, wide-based gait, 4/5 muscle power in lower limbs, flexor plantar response and no sensory or autonomic abnormality.

For psychiatric manifestations, both pharmacological and non-pharmacological management in the form of fluoxetine 20 mg/day and CBT and ERP were commenced. The patient was receptive during the initial therapy sessions but gradually stopped following instructions in subsequent sessions. This raised the suspicion of underlying cognitive decline and was advised repeat IQ which came out to be 75 (done in October 2018) and a repeat testing in September 2019 showed SQ: 59. The patient showed around 50- 60 percent improvement in frequency of compulsive behaviours upon optimization of fluoxetine to 60 mg/day during three years of regular follow-ups even though his daily functioning is hampered by clinical presentations of KSS.

The index case of KSS was diagnosed initially as SLD with dull average intelligence and subsequently developed OCD and cognitive decline leading to intellectual disability. Although psychiatric disorders can co-exist with any and many medical/neurological disorder, it becomes important to reason out why they occurred.[3] KSS is one such mitochondrial cytopathy that has been found to be associated with psychiatric conditions such as low IQ and cognitive decline. Cognitive decline is generally gradual and occurs progressively as evidenced in the index case by report of IQ testing done over a period of time. Apart from this, KSS has not been found to be associated with any other psychiatric illness unlike index case with more than one psychiatric disorders. Even though the prevalence of psychiatric morbidities in mitochondrial cytopathies is high, the literature on these patients is sporadic and limited to case reports and case series with limited insight into the underlying neurobiology.[3] In OCD, the most accepted neurobiological model propose dysfunction in cortico-striato-thalamo-cortical circuit which influences balance between direct and indirect striatopallidal pathways leading to repetitive behaviors and anxiety.[4] Although there has been no literature about direct causation for the presentation of OCD in a patient of KSS, there seems to be overlap in terms of areas of the brain involved in both i.e., frontal lobe, basal ganglia, thalamus, and brain stem as evidence in the indexed case which can be hypothesized to be the cause.[4] whereas in others, clinical markers are considered to be the clue for underlying mitochondrial cytopathy such as Multiple symmetric lipomatosis.[5]

Although the literature in this regard is deficient, the index case is one contribution as there is no case report of patients with KSS having psychiatric illness such as OCD with progressive cognitive decline to the best of our knowledge.

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Conflicts of interest

There are no conflicts of interest.


1Kearns-Sayre Syndrome disease: Malacards-Research Articles, Drugs, Genes, Clinical Trials. Available from: [Last assessed on 2020 Aug 15].
2Phadke M, Lokeshwar MR, Bhutada S, Tampi C, Saxena R, Kohli S, et al. Kearns Sayre Syndrome- Case report with review of literature. Indian J Pediatr 2012;79:650-4.
3Anglin RE, Tarnopolsky MA, Mazurek MF, Rosebush PI. The psychiatric presentation of mitochondrial disorders in adults. J Neuropsychiatry Clin Neurosci 2012;24:394-409.
4Venkatasubramanian G. Neurobiology of obsessive-compulsive disorder. In: Janardhan Reddy YC, Srinath S, editors. Obsessive Compulsive Disorder – Current Understanding and Future Directions, 1st ed. Bengaluru: NIMHANS; 2007. p. 41-85.
5Sowmini PR, Vijayashankar P, Gobinathan S. Mutiplesymmetric lipomatosis: A clinical marker of mitochondrial cytopathy. Neurolo India 2019;67:920-3.