Abstract
OBJECTIVE: To report two pediatric cases of hyperekplexia in a small city of São Paulo state, Brazil. CASE DESCRIPTION: Two female patients, one aged three years and six months and one aged five months, receiving care from an APAE (Association of Parents and Friends of People with Disabilities) unit, were diagnosed with hyperekplexia 1, a neurological disorder characterized by an excessive startle response. Hyperekplexia cases can be divided into three subgroups: hereditary, sporadic, and symptomatic. Several specialists have examined patient 1 since she was three weeks old, leading to two initial diagnostic hypotheses (childhood chronic non-progressive encephalopathy and spastic cerebral palsy). She was diagnosed with hyperekplexia 1 at eleven months when a genetic test revealed changes in the GLRA1 gene. Patient 2, at birth, presented hyperextension of both legs, low-set ears, cranial asymmetry, prominent occiput, and tremors in the lower limbs. After several tests and evaluations, the final diagnosis was confirmed at three months old. Her family history indicates the possibility of hereditary hyperekplexia. COMMENTS: The cases were compared with information obtained through a bibliographical review. Both patients presented several symptoms associated with hyperekplexia, including neurological symptoms such as increased startle response, convulsions, and hypertonia, which were alleviated with appropriate treatment. So far, combining multidisciplinary assistance with drug treatment, particularly anxiolytics and anticonvulsants, with clonazepam being the most used, has significantly contributed to both patients' improved quality of life. However, physical symptoms, such as hip dislocation and clubfoot, require future surgical intervention.