Enfermedad de Tay-Sachs: características clínicas y neuroimágenes en 6 pacientes

introduction. tay-sachs disease, an autosomal recessive inherited disorder, has become worldwide spread. the classic infantile form is the commonest. objectives. to present the clinical manifestations and neuroimaging findings from 6 non-jewish children with the classic form of the disease. population. children from 4,5 to 7 months old diagnosed with tay-sachs disease by enzymatic serum assays who were hospitalized in "hospital del ni？o jesús, tucumán". methods. this is a retrospective-prospective, observational, descriptive study during a six-year period. a detailed medical history, neuro-ophthalmologic examination, family history, consanguinity, electroencephalogram, neuroimaging and follow-up were performed. results. all patients showed progressive psychomotor deterioration, hypotonia and deep tendon hyperreflexia. the earliest sign, myoclonic-like jerks to sounds, were often not recognized by parents. the ophthalmologic examination revealed the bilateral macular "cherry red spot" before visual failure. increasing head size and seizures, usually generalized tonic-clonic, can occur in the second year of life. the electroencephalogram undergoes several types of alterations not closely related to seizures types. ct scan showed bilateral homogeneous thalamic hyperdensity. on mri, the thalamus showed abnormal hyperintensity on t1-weighted and low signal on t2-weighted images. conclusion. the abnormal acoustic motor response should not be overlooked. progressive psychomotor deterioration with hypotonia-hyperreflexia along with abnormal thalamic neuroimaging may be useful as a specific diagnostic criterion for neurometabolic disease.