RESUMO
BACKGROUND: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity. METHODS: We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a standard questionnaire that was sent to nine major referral hospitals in Saudi Arabia. RESULTS: A total of 22 Saudi patients (11 males, 11 females) from 20 unrelated families who had hereditary hyperekplexia were included. Based on molecular studies, they were classified into different subtypes: SLC6A5 variant (12 patients, 54.5%), GLRB variant (seven patients, 31.8%), and GLRA1 variant (three patients, 13.7%). All patients were homozygous for the respective causal variant. The combined carrier frequency of hereditary hyperekplexia for the encountered founder mutations in the Saudi population is 10.9 per 10,000, which translates to a minimum disease burden of 13 patients per 1,000,000. CONCLUSION: Our study provides comprehensive epidemiologic information, prevalence figures, and clinical characteristics of a large cohort of patients with hereditary hyperekplexia.
Assuntos
Rigidez Muscular Espasmódica , Feminino , Proteínas da Membrana Plasmática de Transporte de Glicina/genética , Humanos , Masculino , Mutação , Receptores de Glicina/genética , Reflexo de Sobressalto/genética , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Rigidez Muscular Espasmódica/epidemiologia , Rigidez Muscular Espasmódica/genéticaRESUMO
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. OBJECTIVES: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. METHOD: Case report. RESULTS: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia. The patient was treated with biotin and thiamine, and the family was instructed to continue these medications for life. When she was 7 years old, her supplements were stopped for 2 weeks for social reasons. Afterward, the patient began to have tremor in both hands and an unsteady gait. The family then resumed the medications at the usual dosages. However, the patient remained symptomatic. The patient was admitted with acute BTBGD because of discontinuation of medications. The patient's condition was then managed with high doses of intravenous thiamine and oral biotin. She showed gradual improvement after 48 hours. She was then discharged home 1 week later with residual mild upper and lower limb tremor, as well as right lower limb dystonia. Further follow-up showed a good neurological condition with no apparent long-term sequel. The family was further educated about the importance of strict compliance. CONCLUSION: Patients with BTBGD should remain on lifelong treatment with thiamine and biotin. For those who present with acute relapse, we recommend inpatient treatment with high doses of intravenous thiamine and oral biotin. Further clinical research is required to determine the optimal doses and durations.