A 27-month-old @entity1 was admitted with inability to walk and speak. The pregnancy, labor and delivery were unremarkable. She was the second @entity1 of first degree consanguineous parents and the other 5-year-old @entity1 was healthy. On physical examination, she could sit without aid. @entity346 and bilateral optic atrophy were diagnosed. Moderate @entity2421 and @entity2057 were noted in the lower extremities, and deep tendon reflexes were found to be brisk. Serum @entity908 kinase level was normal. Brainstem auditory evoked potential was also bilateral normal. Flash visual evoked potential was found to be prolonged bilaterally. Magnetic resonance imaging of the brain showed @entity15405 and mild @entity194 . Electromyographic examination was consistent with @entity4681 . Muscle biopsy specimen was unremarkable. Genetic analysis was unremarkable. The @entity1 was diagnosed with @entity15405 associated with @entity4681 , which was named as @entity15405 , @entity195 or @entity528 in the literature. During the follow-up, the parents said that she died at the age of 34 months, because of probable @entity281 .

A fatal case of @entity15405 associated with XXXX .

@entity1 :: ('9606', 'Species') :: ['girl', 'patient', 'child'] @entity908 :: ('MESH:D003401', 'Chemical') :: ['creatine'] @entity4681 :: ('MESH:D016472', 'Disease') :: ['anterior horn cell disease'] @entity281 :: ('MESH:D007239', 'Disease') :: ['infection'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['hypotonicity'] @entity194 :: ('MESH:D001284', 'Disease') :: ['cerebral atrophy'] @entity195 :: ('MESH:D000544', 'Disease') :: ["Norman's disease"] @entity2057 :: ('MESH:D009133', 'Disease') :: ['muscle atrophy'] @entity346 :: ('MESH:D009759', 'Disease') :: ['Horizontal nystagmus'] @entity528 :: ('MESH:D009410', 'Disease') :: ['infantile neuronal degeneration'] @entity15405 :: ('MESH:C562568', 'Disease') :: ['severe cerebellar hypoplasia', 'cerebellar hypoplasia', 'amyotrophic cerebellar hypoplasia']
@entity4681 :: (MESH:D016472,Disease) :: ['anterior horn cell disease']
