Affiliations: Department of MRI, Dr. Balabhai Nanavati Hospital,
Mumbai, India | Department of Pediatrics, Dr. Balabhai Nanavati
Hospital, Mumbai, India
Note: [] Correspondence: Dr. Rama Yanamandala M.D., Department of MRI,
Dr. Balabhai Nanavati Hospital, S.V. Road, Vile Parle (west), 400056, Mumbai,
India. Tel.: +91 22 26134455; +91 22 26182712; Fax: +91 22 26119363; E-mail:
yrama555@gmail.com
Abstract: Non-ketotic hyperglycinemia (NKH) is an uncommon metabolic disorder
with an autosomal recessive inheritance due to abnormal glycine metabolism. We
present the pre-therapy and post-therapy magnetic resonance imaging,
biochemical and clinical features of a child with NKH with manifestation in the
early neonatal period. The initial diagnosis of NKH was made on the biochemical
evidence of elevated cerebrospinal fluid (CSF) glycine levels and CSF: plasma
glycine ratio. Pre-therapy magnetic resonance imaging revealed thinned out
corpus callosum, intracranial hemorrhages, prominent ventricular system, few
cystic changes in bilateral gangliocapsular region and abnormal T2
hyperintensities in the white matter. Magnetic resonance spectroscopy did not
reveal glycine peak in our case. Post-therapy, there was clinical improvement
and reduction in CSF glycine levels. In the follow up scan, myelination had
progressed with residual leukomalacic changes and volume loss of white
matter.
