てんかんジャーナル

Introduction: Tuberous sclerosis complex (TSC) is a genetic disorder that can arise from sporadic or inherited mutations in TSC1 or TSC2 genes. It is characterized by tumors in multiple organs that result in broad clinical manifestations, usually affecting the central nervous system. Diagnosis is based upon clinical criteria that require careful clinical examination along with imaging and the availability of genetic testing to assess gene mutations linked to this disorder. We present a familial case of tuberous sclerosis complex with multiple subtle clinical manifestations and novel TSC1 mutation that were diagnosed in adulthood. This report adds to the growing literature on TSC1 gene by correlating specific nucleotide substitutions with possible secondary clinical manifestations.
Case presentation: A 21 year-old Hispanic female presented with history of epilepsy onset in early childhood. Upon clinical examination and imaging testing, she was found to have lesions on her scalp, eyes and brain. Her mother is 51 years old with long-standing history of epilepsy with multiple lesions on skin, eyes, and similar findings in brain imaging to daughter. No additional family history was obtained suggestive of tuberous sclerosis complex.
Conclusion: Milder forms of tuberous sclerosis complex can remain undiagnosed until adolescence and adulthood, which may lead to treatment delay and complications due to the lack of regular follow-up care. In this case report, both individuals’ presenting symptom was epilepsy and later other clinical findings were linked to the disorder. Additionally, a novel DNA sequence variant was detected, which expands our knowledge of known TSC1 gene mutations. Although these genetic test results cannot be used alone to make a definite diagnosis, they suggest an association to TSC given the clinical manifestations and family history.

Background: Epilepsy is a chronic disease that affects different aspects of life. Few studies have measured, using validated scales, the psychosocial impact of epilepsy in a general practice setting in Zambia. Aim: To find out the quality of life in PWE attending clinics in Lusaka, and to find out various factors affecting them Method: A survey was undertaken of 50 subjects, with generalized or partial epileptic seizures aged 18 years or more and drawn from epilepsy clinics in Lusaka. The outcome measure was the SF-31(Quality of Life in Epilepsy Inventory-31). Results: 38% of persons with active epilepsy had significantly low QOL due to their condition. Females had lower QOL scores than males. Patients with higher levels of education had higher scores than their counterparts with lesser education. People who had been ill for greater than 5 years had higher scores than those who had been ill for a shorter duration. Those whose caregivers had a high income from salary job had higher scores than those whose caregivers were unemployed. Conclusion: The occurrence of seizures, even at low frequencies, is associated with psychosocial handicap, and this may remain covert in general practice. Increased impairment in QOL was observed in female, less educated patients with recent onset of seizures, and unemployed caregivers. Poor QOL in epilepsy reflects social underachievement and calls for programs to remedy their psychosocial circumstance and improve health service provisions.