Presentation
Disturbed level of consciousness.
Patient Data
T2 and flair hyperintense lesions involving the basal ganglia (mainly in the putamen and caudate), more prominent on the right side.
Abnormal signal intensity and edema in the cerebral and cerebellar cortices elicit high signal in T2 and FLAIR.
Diffusion restriction is noted present as a high signal in DWI and a low signal in ADC.
Prominent ventricular system and to a lesser degree extra-axial CSF spaces.
Normal cerebral arteries and veins.
Case Discussion
This is a known case of propionic acidemia presented with a disturbed level of consciousness. The MR study shows diffuse cerebral, cerebellar, and basal ganglionic changes.
Detailed history:
This child is the outcome of normal vertex delivery at term with no NICU admission. He presented at the age of three weeks with metabolic decompensation and hyperammonemia. There is a positive family history of a similar condition in his older sibling and a maternal cousin. He has a global developmental and language delay.
Investigations:
Urine organic acid: increased levels of 3hydroxypropionic acid, propionate glycine, and methyl citric acid
Tandem MS C3= 23 umol/L
PCCA gene sequencing homozygous c425GA (p G142D) in exome
Management:
low protein diet
L-carnitine
Biotin
physiotherapy and occupational therapy