Introduction: Canavan disease is a neuro-degenerative disorder characterised by progressive spongiform leukodystrophy with elevated N acetylaspartate. We present two atypical cases of Canavan disease presenting with normocephaly, mild phenotype and distinct neuroimaging picture. Methods: Clinical, neurodevelopmental details of radiologically suggested Canavan disease were evaluated in two cases. Results: Case 1 was 8 years old boy born of consanguineous union with normal birth history presented with progressive ataxia, tremors and slurring of speech noticed since 3 years of age. Child had global developmental delay, normocephaly, spasticity, brisk reflexes and cerebellar signs. On evaluation, he had intellectual deficit; extraocular movements, fundus, NCV and routine blood investigations were normal except for mild elevation in serum lactate. Case 2 was 2 years old baby girl, born of consanguineous union with normal birth history presented with developmental delay and tremulousness. Head circumference was appropriate for age. She had alternating esotropia, spasticity, brisk reflexes. Her GCMS showed 8.59 fold elevation of N acetylaspartate. Neuroimaging showed bilateral symmetric areas of T2 and FLAIR hyperintensity with restricted diffusion in subcortical U fibers, deep grey nuclei, brainstem, cerebellum, giving ‘rim sign’ in basal ganglia. MRS showed high NAA peak, mild elevation of NAA: creatinine ratio. Although case 1 was suspected to have mitochondrial disorder in view of elevated serum lactate and MRI brain, a clinic-radiological diagnosis was made after MRS suggestive of atypical presentation Canavan disease. Conclusion: These cases emphasize on the phenotypic variability in neurodegenerative disorders and also signify the importance of MRS in diagnosis of developmental disorders.

Noopur Navandar
BJ Wadia children hospital
India

Shilpa Kulkarni
BJ wadia children hospital
India

Payal Shah
BJ wadia children hospital
India

Foram Gala
BJ Wadia children hospital
India

Nidhi Aggarwal
BJ wadia children hospital
India

Vrushabh Gavali
BJ wadia children hospital
India