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NEUROIMAGE
Year : 2021  |  Volume : 69  |  Issue : 4  |  Page : 1107-1108

Adolescent with Progressive Ptosis: Is there any Clue?


1 Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Pediatric Neurology Unit, Department of Radio-Diagnosis and Imaging, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Date of Submission08-Feb-2018
Date of Decision28-Mar-2018
Date of Acceptance27-Jul-2019
Date of Web Publication2-Sep-2021

Correspondence Address:
Lokesh Saini
Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.325315

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How to cite this article:
Sharawat IK, Kesavan S, Naik BL, Sahu JK, Singh P, Saini L. Adolescent with Progressive Ptosis: Is there any Clue?. Neurol India 2021;69:1107-8

How to cite this URL:
Sharawat IK, Kesavan S, Naik BL, Sahu JK, Singh P, Saini L. Adolescent with Progressive Ptosis: Is there any Clue?. Neurol India [serial online] 2021 [cited 2021 Sep 25];69:1107-8. Available from: https://www.neurologyindia.com/text.asp?2021/69/4/1107/325315




An 11-year-old boy presented with drooping of both the eyelids for past three years. It was insidious in onset, bilaterally symmetric, and slowly progressive in nature. There was no history of double vision, facial weakness, difficulty in swallowing, change in voice, easy fatigability, limb weakness, and palpitation. There was no history suggestive of diurnal variation in symptoms. He was born to non consanguineous parents and the family history was noncontributory. He was a class 5 student with good scholastic performance. On examination he had bilateral ptosis [Figure 1]a and external ophthalmoparesis. Rest of neurological examination was unremarkable. The possibilities considered were ocular myasthenia and progressive external ophthalmoplegia.
Figure 1: Facial and fundus photograph. Facial photograph (a) showing bilateral ptosis and excessive use of frontalis muscle. Fundus photograph (b) showed bilateral degenerative and pigmentary changes in peripheral retina

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Fundoscopy revealed pigmentary changes [Figure 1]b. Repetitive nerve stimulation test was normal. Anti acetyl-choline-esterase receptor antibodies were undetectable. Magnetic resonance imaging of brain showed signal changes in dorsal brain stem [Figure 2]. Cerebro-spinal fluid (CSF) examination; which revealed elevated protein (147 mg/dL) and lactate levels (2.9 mmol/L). His 12 lead electrocardiogram and Holter was normal. Endocrine evaluation revealed elevated random blood sugar (367 mg/dL) and Hb1Ac (7.8%). A diagnosis of Kearns Sayre Syndrome was made based on the clinico-radiological ground. Genetic analysis could not be done due to non-affordability. He was started on folinic acid, thiamine, CO-enzyme-Q, and daily subcutaneous insulin.
Figure 2: Magnetic resonance image of the brain. MRI brain (T2 weighted and fluid attenuated inversion recovery) sequences showed bilateral symmetrical hyperintense signal changes in dorsal medulla (T2 a, FLAIR b), pons (T2 c, FLAIR d) and tegmentum of midbrain (T2 e, FLAIR f)

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KSS is a rare mitochondrial disorder with multisystem involvement.[1] The classical triad of KSS includes progressive external ophthalmoplegia, retinal pigmentary changes, and onset before 20 years of age.[2] The additional features includes elevated CSF protein levels (>100 mg/dL), cardiac conduction block, and cerebellar ataxia. For the clinical diagnosis one should have the classical triad plus one or more of the additional characteristics.[3] MRI in KSS classically involves caudate nuclei, globus pallidi, thalami, periventricular white matter, dorsal medulla, and cerebellar white matter.[4] Isolated brain-stem abnormalities may be seen[5] in early stage as seen in our case. There is no definitive treatment for this condition, high dose folinic acid have been tried with limited success. In conclusion, myasthenia should be ruled out in any child who presented with ptosis and external ophthalmoplegia because it is a treatable condition and patients with KSS requires multisystem screening, and early diagnosis can prevent sudden deaths secondary to cardiac conduction abnormalities.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, NeishSR, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004;114:925-31.  Back to cited text no. 1
    
2.
Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010;10:118-26.  Back to cited text no. 2
    
3.
Khambatta S, Nguyen DL, Beckman TJ, Wittich CM. Kearns-Sayre syndrome: A case series of 35 adults and children. Int J Gen Med 2014;7:325-32.  Back to cited text no. 3
    
4.
Sacher M, Fatterpekar GM, Edelstein S, Sansaricq C, Naidich TP. MRI findings in an atypical case of Kearns-Sayre syndrome: A case report. Neuroradiology 2005;47:241-4.  Back to cited text no. 4
    
5.
Nakagawa E, Hirano S, Yamanouchi H, Goto Y, Nonaka I, Takashima S. Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: A case report. Brain Dev 1994;16:416-8.  Back to cited text no. 5
    


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