| NEUROIMAGING |
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| Year : 2021 | Volume
: 16
| Issue : 1 | Page : 82-84 |
A young child with recurrent episodes of headaches and vision loss: Diagnostic clues?
Prateek Kumar Panda1, Indar Kumar Sharawat1, Avinish Singh1, Poonam Sherwani2
1 Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India
2 Department of Radiology, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India
Correspondence Address:
Dr. Indar Kumar Sharawat
Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Rishikesh 249203, Uttarakhand.
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpn.JPN_91_20
MELAS is a mitochondrial cytopathy, with maternal inheritance and variable phenotype expression and severity depending on the degree of heteroplasmy. It presents with waxing and waning symptoms, in form of recurrent migrainous headache, transient loss of sight, hemianopsia, transient ischemic attack, or stroke-like episodes, focal seizures and even periods of altered sensorium. Here we present an 8-year-old boy presented with recurrent episodes of migrainous headache associated with vomiting sometimes and recurrent episodes of loss of vision for the past one year. As many of these episodes were precipitated by some febrile illness, so the child was suspected to have neurotuberculosis outside, because of Mantoux positivity. His mother also had similar episodes of recurrent headache and ultimately succumbed to cerebrovascular accident. Mitochondrial genome sequencing revealed heteroplasmic missense variation in the MT-TL1 gene (chrM:3243A>G).
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