X-lined of ABCD1 in Hereditary spastic paraplegia Patients
- Patient Serial No - 1
Age:
10
Sex:
male
Clinical Features:
recognition, attention defecit or hyperactivity disorder in boys and multiple sclerosis in young adult. Most common presentation is severe dementia, visual problem, hearing disturbance, speech & gait problem, death within few years. Usually patient have adrenal insu!ciency at the time of adrenal presentation. diagnosis was suggested by clinical and laboratory signs of primary adrenal failure and by neurological signs referable to the degeneration of white matter. Neurological findings usually predominated over clinical stigmata of adrenal failure. At the course of disease progression, it is rapidly progressible, patient usually reach vegetative state within 10 years after neurological symptom appear
Biochemical Data:
Vitals-B.P.-120/70mmHg, pulse-84b.p.m.Both shoulder= sulcus sign present speech= motor aphasia, bulk of the muscles were normal, Tone increased, Power of the muscle were di!cult to measure but apparently his weakness were more in hip adductor which w