Could GMFCS shift 5 to 1 in a 7 years old child? Segawa ...Objectives: Segawa’s Disease (dopa-...
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Objectives: Segawa’s Disease (dopa- responsive dystonia) characterized by dystonic with fluctuation of symptoms throughout the day. It's a rare disease which clinical presentation in congenital forms resembles the CP, but distinguishes by its reversibility. Treatment with Levodopa promotes significant improvement. Therefore, it's essential to carry out a differential diagnosis by a health professional, considering cases of Segawa misdiagnosed as CP. Our objective is draw attention to this issue through the case report of a child accompanied by a multidisciplinary Could GMFCS shift 5 to 1 in a 7 years old child? Segawa disease. Importance of differential diagnosis of Cerebral Palsy. Carvalho, MS; Gomes, TCM; Assunção, PF; Moreira, BL. Sarah Network, São Luís-MA, Brazil. Results: The therapeutic test was conducted with Levodopa 250 mg + Carbidopa 25 mg. There has been progress in motor development, cognitive and hand function. Acquired gait with assistance mobility in five months and independent walking after 10 months (GMFCS 1); cognitive gains (transition from pre-operational period/ preoperative); hand function expected for age (after 22 months). Started studying at regular school, has ability to write properly and independence in daily activities. of a child accompanied by a multidisciplinary team of rehabilitation. Participants and Setting: A 7-year-old female, delayed global development, mobility in a wheelchair assisted by third parties, Gross Motor Function Classification System (GMFCS) 5 and brain injury risk factors. The first main diagnosis was CP. Neurological exam with poor trunk balance, tetra spasticity, hyperactive reflexes, dystonia, floating tone, tremors of head and upper limbs and bilateral Babinski signal. Cognitive delay (early preoperative period according to Piaget). She did not attend school and had no ability to write. Normal neuroimaging and laboratory tests. Segawa disease was suspected after clinical evidence of floating tone and hand skills during a hospital rehabilitation period. Conclusions: The interdisciplinary teamwork and recognition of clinical signs enabled the diagnosis of Segawa and medical treatment with significant clinical improvement. There was a change of the maximum level of functional impairment (GMFCS 5) to minimum (GMFCS 1). The data point for broader benefits to the treatment in Segawa, regardless of age of onset of medications (cognitive gains and general operation). Highlights the importance of differential diagnosis, teamwork, continuity of treatment and follow-up since the diagnosis is clinical. References: COLVER, A; FAIRHURST, F; PHAROAH, P O D. Cerebral Palsy. Lancet 2014; 383: 1240–49GORDON, N. Segawa’s disease: dopa-responsive dystonia. Int J Clin Pract. 2008, 62, 6: 943-946.JAN, MMS. Misdiagnoses in Children Whit Dopa- responsive Dystonia. Pediatri Neurology. 2004, 31, 4: 298-303.NEVILLE, B.CongenitalDOPA- responsive disorders: a diagnostic and therapeutic challenge to the cerebral palsies?. Developmental Medicine e Child Neurology. 2007, 49: 85- 85.PALISANO R, ROSENBAUM P, WALTER S, RUSSEL D, WOOD E, GALUPPI B. Development and reliability of a system to classify gross motor function in children with cerebral palsy. Dev Med Child Neurol 1997; 39:214–223. Design: Case Report Methods: Study based on electronic medical record analysis. Hand function was assessed by the Peg Board instrument and cognitive developmental according to Piaget. Physical exam, including: motor skills and functional gait analysis were recorded with images and videos every two months during the first year and annual follow-up for six years. Contact Information:Mariana Carvalho, Pediatrician. E-mail: [email protected]
Transcript of Could GMFCS shift 5 to 1 in a 7 years old child? Segawa ...Objectives: Segawa’s Disease (dopa-...
Objectives: Segawa’s Disease (dopa-responsive dystonia) characterized by dystonicwith fluctuation of symptoms throughout theday. It's a rare disease which clinicalpresentation in congenital forms resembles theCP, but distinguishes by its reversibility.Treatment with Levodopa promotes significantimprovement. Therefore, it's essential to carryout a differential diagnosis by a healthprofessional, considering cases of Segawamisdiagnosed as CP. Our objective is drawattention to this issue through the case reportof a child accompanied by a multidisciplinary
Could GMFCS shift 5 to 1 in a 7 years old child? Segawa disease. Importance of differential diagnosis of Cerebral Palsy.
Carvalho, MS; Gomes, TCM; Assunção, PF; Moreira, BL.Sarah Network, São Luís-MA, Brazil.
Results: The therapeutic test was conductedwith Levodopa 250 mg + Carbidopa 25 mg.There has been progress in motordevelopment, cognitive and hand function.Acquired gait with assistance mobility in fivemonths and independent walking after 10months (GMFCS 1); cognitive gains (transitionfrom pre-operational period/ preoperative);hand function expected for age (after 22months). Started studying at regular school,has ability to write properly and independencein daily activities.
of a child accompanied by a multidisciplinaryteam of rehabilitation.
Participants and Setting: A 7-year-oldfemale, delayed global development, mobilityin a wheelchair assisted by third parties, GrossMotor Function Classification System(GMFCS) 5 and brain injury risk factors. Thefirst main diagnosis was CP. Neurologicalexam with poor trunk balance, tetra spasticity,
hyperactive reflexes, dystonia, floating tone,tremors of head and upper limbs and bilateralBabinski signal. Cognitive delay (earlypreoperative period according to Piaget). Shedid not attend school and had no ability towrite. Normal neuroimaging and laboratorytests. Segawa disease was suspected afterclinical evidence of floating tone and handskills during a hospital rehabilitation period.
Conclusions: The interdisciplinary teamworkand recognition of clinical signs enabled thediagnosis of Segawa and medical treatmentwith significant clinical improvement. Therewas a change of the maximum level offunctional impairment (GMFCS 5) to minimum(GMFCS 1). The data point for broaderbenefits to the treatment in Segawa,regardless of age of onset of medications
(cognitive gains and general operation).Highlights the importance of differentialdiagnosis, teamwork, continuity of treatmentand follow-up since the diagnosis is clinical.
References:COLVER, A; FAIRHURST, F; PHAROAH, P O D. Cerebral Palsy. Lancet 2014;
383: 1240–49GORDON, N. Segawa’s disease: dopa-responsive dystonia. Int JClin Pract. 2008, 62, 6: 943-946.JAN, MMS. Misdiagnoses in Children Whit Dopa-
responsive Dystonia. Pediatri Neurology. 2004, 31, 4: 298-303.NEVILLE,
B.CongenitalDOPA- responsive disorders: a diagnostic and therapeutic challengeto the cerebral palsies?. Developmental Medicine e Child Neurology. 2007, 49: 85-
85.PALISANO R, ROSENBAUM P, WALTER S, RUSSEL D, WOOD E, GALUPPIB. Development and reliability of a system to classify gross motor function in
children with cerebral palsy. Dev Med Child Neurol 1997; 39:214–223.
Design: Case Report
Methods: Study based on electronic medical record analysis. Hand function was assessed by the PegBoard instrument and cognitive developmental according to Piaget. Physical exam, including: motorskills and functional gait analysis were recorded with images and videos every two months during thefirst year and annual follow-up for six years.
Contact Information:Mariana Carvalho, Pediatrician. E-mail: [email protected]
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