PMC:4157140 / 39710-42041 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157140","sourcedb":"PMC","sourceid":"4157140","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157140","text":"Affected Subject S1 S2 S3 S4 S5 S06\nGender female female male male male female\nYear of birth 1987 1998 1997 2000 2007 2009\nSiblings (affected / unaffected / otherwise affected) 1 / 0 / 0 1 / 0 / 0 0 / 1 / 0 0 / 1 / 0 0 / 8 / 0 0 / 1 / 0\nConsanguinity parents − − + + + −\nPregnancy, delivery, neonatal period normal normal normal normal normal normal\nInitial motor \u0026 cognitive development normal normal normal normal mildly delayed normal\nSingle Episode of Regression\nAge at presentation (years) 2.5 never developed neurological signs 3 5 5 2\nSigns at presentation L-hemiparesis, somnolence, irritability, loss of ambulation NA delayed speech, gait difficulties gait difficulties dysarthria and gait difficulties frequent falls and leg weakness\nPreceding event recurrent vomiting and poor growth NA NA NA febrile illness febrile illness\nSigns of regression severe spastic tetraparesis, lowered consciousness NA spastic tetraparesis L \u003e R spastic tetraparesis, ataxia and sensorimotor polyneuropathy with loss of unsupported walking spastic tetraparesis, ataxia and sensorimotor polyneuropathy with loss of unsupported walking spastic tetraparesis and sensorimotor polyneuropathy with loss of ambulation; gastrostomy due to swallowing defect\nTreatment temporary improvement on steroids; riboflavin, coenzyme Q10, thiamine and vitamin C coenzyme Q10, carnitine and vitamin C none none none riboflavin, coenzyme Q10\nDuration of regression 2 months NA 2 years 2–3 months 2–3 months 5 months\nFurther regressions seizures at age 4, controlled with carbamazepine; no further regression NA a somnolence episode with generalized seizure at age 5; 3 seizures during follow-up of 11 years; no further regression no further regression no further regression no further regression\nOutcome\nAge (years) 26 14 16 13 6.5 4\nMotor function wheelchair-bound normal moderate spastic tetraparesis L \u003e R; wheelchair-bound walks, mild signs of spasticity, ataxia, and peripheral neuropathy walks, mild signs of spasticity, ataxia, and peripheral neuropathy walks, spastic gait\nCognitive level decreased normal decreased slightly decreased normal normal\nSpeech and language single words, marked dysarthria normal dysarthria normal normal 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