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The Indian Journal of Pediatrics

, Volume 85, Issue 10, pp 927–928 | Cite as

Imaging in Maple Syrup Urine Disease

  • Tanay Shah
  • Sunita Purohit
  • Mrudang Raval
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A full-term baby boy born by normal vaginal delivery who cried immediately after birth presented on 8th postnatal day with poor feeding, lethargy, apathy, excessive crying and seizures. The systemic examination showed hypotonia and poor neonatal reflexes. Cardiovascular, abdominal and respiratory examination were normal. Biochemistry revealed elevated Serum ammonia levels to about 220 μg/dl (normal range - 50 μg/dl), hypoglycemia (45 mg/dl) and + 3 ketones in urine with metabolic ketoacidosis. A MRI of the brain was performed. MRI revealed bilateral symmetrical areas of hyperintensities on T2-w sequences (Fig.  1) and restricted diffusion on Diffusion weighted imaging (DWI) (Fig.  2) involving white matter of the cerebellum, middle cerebellar peduncles, pons, medulla, dorsal aspect of the mid brain, globi pallidi, cerebral peduncles, corticospinal tract, optic tracts, posterior limb of the internal capsule, corona radiata, centrum semiovale and perirolandic white matter. Based on this...

Notes

Acknowledgements

The authors acknowledge the efforts of Dr. Vivek Jain, Department of Pediatric Neurology, Santokba Durlabji Memorial Hospital, Jaipur, for his constant help, support, motivation and guidance.

Contributions

TS: Concept and collection of data, drafted the manuscript; SP: Supervised and edited the manuscript; MR: Helped in data collection and literature research. SP will act as guarantor for this paper.

Compliance with Ethical Standards

Conflict of Interest

None.

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Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Department of RadiologySantokba Durlabhji Memorial HospitalJaipurIndia

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