Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint's symptoms.

BACKGROUND

Childhood cerebral adrenoleukodystrophy (CCALD) is the most common phenotype of adrenoleukodystrophy (ALD) and is characterized by the progression of intellectual, psychic, visual, and gait disturbances. Progression of this intractable disease can only be prevented by hematopoietic stem cell transplantation during the early stages of the disease. The aim of this study was to clinically evaluate children with CCALD who have visual symptoms to enable early diagnosis.

METHODS

We enrolled 41 Japanese children with CCALD who had visual symptoms. We retrospectively analyzed age of onset, past medical history, initial symptoms, visual symptoms and findings on brain magnetic resonance imaging.

RESULTS

The median age of disease onset was 7 years (range 5-10 years). The most common visual symptom was strabismus (n = 22). There was only one patient with the triad of symptoms of Balint's syndrome. Seventeen patients had incomplete Balint's syndrome and showed one or two of the triad of symptoms. Almost all patients with complete or incomplete Balint's syndrome showed bilateral parieto-occipital white matter lesions.

CONCLUSIONS

CCALD could develop into Balint's syndrome, especially the incomplete form. Therefore, CCALD should be considered when boys show new symptoms, including lack of eye contact or bumping into objects.