Infantile tremor syndrome

Case contributed by Utkarsh Kabra
Diagnosis probable

Presentation

Seizures, tremors and regression of developmental milestones

Patient Data

Age: 5 months
Gender: Male
mri

Diffuse cerebral atrophy with loss of deep white matter, prominent bilateral lateral, 3rd ventricles, convexity sulci and sylvian fissures.
Diffuse thinning of corpus callosum is seen.
Mild atrophy of brainstem is also seen.
Loss of flow void of confluence of sinuses, extending to right transverse
sinus is seen with blooming on GRE.

mri

MRI repeated after 9 months of nutritional correction shows reversal of atrophy with normal appearing convexity sulci and sylvian fissures. Decrease in prominence of lateral ventricles is seen. Corpus callosum appears to have increased volume.

No obvious venous sinus thrombosis seen in present scan.

Case Discussion

Findings in 1st MRI are consistent with diffuse cerebral atrophy. Hemoglobin of the patient was low; 8.5mg/dl. Imaging and biochemical findings were suggestive of infantile tremor syndrome. Importance of the diagnosis lies in the fact that it is reversible with adequate nutrition which is seen in the follow-up MRI after 9 months of nutritional correction.
 

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