Leigh Syndrome

 

Doctor's Information

Name : Maryam
Family : Noori
Email : This email address is being protected from spambots. You need JavaScript enabled to view it.

 

Patient's Information

Gender : Female
Age : 5

 

Case Section

Pediatric Radiology

 

Clinical Summary

A 5-year-old female presented with progressive psychomotor regression, seizure, ophthalmoplegia, swallowing and respiratory difficulties.

 

Images

 

Imaging Procedures and Findings

A 5-year-old female presented with progressive psychomotor regression, seizure, ophthalmoplegia, swallowing and respiratory difficulties. Performed MRI revealed abnormal signal intensity (T2 & FLAIR) in both thalami (especially dorsomedial nucli), dorsal part of pons, periaquiductal gray-matter, cerebellum & centrum semiovale.

 

Discussion

Profound perinatal asphyxia shows hypersignal intensity in dorsolateral putamina, lateral thalami, dorsal BS& peri-Rolandic cortex with past history of perinatal asphyxia. In MELAS, stroke like signal abnormality without vascular distribution also noted. Wilson disease shows T2 changes in older children (teens). Leigh syndrome presents in children less than 6 yrs.

 

Final Diagnosis

Leigh Syndrome.

 

References

Diagnostic Imaging Brain, Osborn et al. Fundamental of diagnostic radiology, William E. Brant, Clyde A. Helms.

 

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