Canvan's disease: case report

Case presentation: In the present work, we analyze case of a child, daughter consanguineous parents, without acquisition developmental milestones and already at 4 months cephalic control. With hypotonia in first life, could sit with support, lost this milestone age three. There is no social interaction, severe delay language significant dysphagia need for Gastrostomy an increase head circumference. At four, started tonic-clonic right bilateral crises, usually presence infectious condition. On physical examination presented macrocephaly prominent forehead, ocular hypertelorism, low nasal bridge. Has spasticity pyramidal release. No eye fixation, absent blink, limited left abduction upbeat nystagmus bilaterally cochleopalpebral reflex. serial resonance 2018 2021, there was evidence reduction brain volume appearance areas diffusion restriction affecting globus pallidus, pons middle cerebellar peduncles, slight swelling effect, suggestive disease progression T2 signal changes white matter N-acetylaspartate peak spectroscopy. Such clinical findings were sufficient diagnostic hypothesis Canavan Syndrome, molecular demonstrating mutation ASPA gene homozygous splice c.526+1G>C.