ICNC Abstracts, ICNC 2018

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A Missed Diagnosis: Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency with Unilateral Basal Ganglia involvement in an Adolescent Boy

Last modified: 2018-09-09


Introduction – Epilepsy, developmental delay and dystonia may present as part of neurometabolic syndrome. We present a case in which simple MR spectroscopy identified a unifying diagnosis.

Case History - A 14 year old had presented with developmental delay, severe dystonia, refractory seizures and behavioral disturbances. Seizures began by 2.5 year, initially well controlled,but later became refractory to treatment. After 7 years of age, he developed psychomotor regression, marked wasting of muscle mass, severe dystonia, aggression, and autistic features. His metabolic investigations were normal and MRI brain showed subtle T2 hyperintense signal in left globus pallidus. Correct diagnosis was possible only after MR spectroscopy was performed at age 13 years. DNA testing found a homozygous c.491dupG mutation in GAMT gene. He showed marked improvement in terms of weight gain, cessation of seizures, control of aggression and decrease in dystonia, within 6 months of creatine supplementation.


Guanidinoacetate methyltransferase deficiency [GAMT] is a frequent causes of cognitive and neurological impairment that are treatable but often underdiagnosed because they are easy to miss in the standard diagnostic workup, although they warrant consideration in the workup for genetic mental retardation syndromes, intractable seizure disorders, and neurological diseases with a predominant lack of active speech.

Conclusion - MR spectroscopy has a key role in diagnosis of certain neurometabolic diseases with characteristic findings. Early intervention prevent further brain damage, and may reverse certain symptoms.




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