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Poster 162: Spinal Muscular Atrophy Type II, A Progressive Congenital Muscular Debilitating Condition: A Case Report
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usual case of Sjogren’s polyneuropathy presenting as acute bilateral foot drop and resembling GBS. Conclusions: VP should be considered as a differential diagnosis in a patient with bilateral foot drop. SS and secondary VP can mimic GBS. Keywords: Rehabilitation, Foot drop, Sjogren’s syndrome, Distal symmetrical.
Poster 161 Slipped Capital Femoral Epiphysis in a Child with Developmental Coordination Delay: A Case Report. Kimberly Sackheim, DO (Mount Sinai Hospital, New York, NY); Jaishree Capoor, MD, FAAP; Arta Lahiji, MD. Disclosures: K. Sackheim, None. Patients or Programs: A 13-year-old boy with developmental coordination disorder (DCD). Program Description: A 13-year-old obese boy with history of DCD and prematurity was evaluated at an outpatient pediatric neuromuscular clinic. He had an atypical presentation complaining of a 2-month history of low back pain that radiated into his left thigh. Examination revealed an obese male with bilateral equinovarus posture and a new left lurch. Hip flexor strength had decreased 1 grade bilaterally from prior examination 3 months ago. Radiographs were obtained which showed a left SCFE. Because it was important to treat this as an orthopedic emergency to ensure non-weight bearing as soon as possible his parents were immediately contacted to bring him to the emergency department for further evaluation. His was admitted to the hospital and underwent left hip pinning that same day. Setting: Outpatient pediatric neuromuscular clinic. Results: 13 year-old boy with DCD and prematurity diagnosed with slipped capital epiphysis. Discussion: Children with DCD experience chronic pain, weakness, decreased endurance and impaired flexibility. DCD is a mulitisymptom syndrome that can masquerade and hinder proper diagnosis of other underlying problems. Slipped capital femoral epiphysis or SCFE is a common hip disorder that occurs in adolescents. It is known to be associated with trauma and obesity and presents with hip/knee pain, limp, and painful range of motion. There is increased incidence of DCD in premature children, and children with DCD are at higher risk for being overweight secondary to their inactivity. Close correlations between rising obesity and higher prevalence of painful lower extremity malalignment syndromes, such as SCFE, have been reported. However, there are no prior case reports in which DCD co-exists with SCFE. Conclusions: It is already known that prematurity increases a child’s risk of DCD and that DCD can lead to obesity, but no clear correlation between gross motor delay and SCFE has yet been concluded. DCD may mask other diagnoses; therefore, it is important to have an increased index of suspicion. In the end, prematurity leading to DCD
POSTER PRESENTATIONS
may increase the risk for SCFE and other orthopedic complications. Keywords: Rehabilitation, Slipped capital femoral epiphysis, Developmental coordination delay, Prematurity.
Poster 162 Spinal Muscular Atrophy Type II, A Progressive Congenital Muscular Debilitating Condition: A Case Report. Hector A. Miranda, MD (Jackson Memorial Hospital, Miami, FL); Kester Nedd, DO. Disclosures: H. A. Miranda, Jackson Memorial Hospital, Employment Patients or Programs: A 21-year-old Haitian man. Program Description: Case of a 21-year-old Haitian male who has had progressive muscle weakness since early age. His neonatal course was uneventful as well as his mother’s gestational period. He achieved his motor milestones within the normal age range until his mother first noticed his weakness when the patient developed difficulty walking after 18 months of age. The patient would crawl his way around until age 14, after which time he was too weak to do so. He remained bed bound since then. He has no family history of muscular dystrophy. There is no consanguinity between his parents. He had been hospitalized a few times prior to our evaluation due to respiratory compromise, secondary to failure of mucous plug expectoration. He also suffered from chronic back pain, severe kyphoscoliosis and a poor nutritional status. He was consulted to rehabilitation after he was hospitalized for an episode of community-acquired pneumonia. His muscle weakness precluded him from achieving more autonomy in most of his functional independence goals, for which reason his stay in the acute rehabilitation unit was short. Setting: Acute inpatient rehabilitation unit. Results: The patient’s debilitating condition is due to spinal muscular atrophy Type II (SMA-II). His kyphoscoliosis (directly related to his condition) severely compromises his lung vital capacity, putting him at risk of developing secondary pulmonary hypertension and recurrent pulmonary infections. Despite his condition he has thrived in life and is on his way to complete a degree in business management. Discussion: SMA-II is an autosomal recessive condition caused by loss of exons 7 and 8 of the Survival Motor Neuron 1 gene on both alleles. It is a unique kind of muscular dystrophy considering that it spares cognitive function. Nevertheless, strong determination and family support is crucial in order for these patients to thrive socially within their disability. Conclusions: SMA-II is an irreversible progressive muscular debilitating condition that renders patients totally dependent for activities of daily living but doesn’t necessarily preclude them from achieving academic success or a vocation suited to their handicap. Keywords: Rehabilitation, Spinal muscular atrophy.
usual case of Sjogren’s polyneuropathy presenting as acute bilateral foot drop and resembling GBS. Conclusions: VP should be considered as a differential diagnosis in a patient with bilateral foot drop. SS and secondary VP can mimic GBS. Keywords: Rehabilitation, Foot drop, Sjogren’s syndrome, Distal symmetrical.
Poster 161 Slipped Capital Femoral Epiphysis in a Child with Developmental Coordination Delay: A Case Report. Kimberly Sackheim, DO (Mount Sinai Hospital, New York, NY); Jaishree Capoor, MD, FAAP; Arta Lahiji, MD. Disclosures: K. Sackheim, None. Patients or Programs: A 13-year-old boy with developmental coordination disorder (DCD). Program Description: A 13-year-old obese boy with history of DCD and prematurity was evaluated at an outpatient pediatric neuromuscular clinic. He had an atypical presentation complaining of a 2-month history of low back pain that radiated into his left thigh. Examination revealed an obese male with bilateral equinovarus posture and a new left lurch. Hip flexor strength had decreased 1 grade bilaterally from prior examination 3 months ago. Radiographs were obtained which showed a left SCFE. Because it was important to treat this as an orthopedic emergency to ensure non-weight bearing as soon as possible his parents were immediately contacted to bring him to the emergency department for further evaluation. His was admitted to the hospital and underwent left hip pinning that same day. Setting: Outpatient pediatric neuromuscular clinic. Results: 13 year-old boy with DCD and prematurity diagnosed with slipped capital epiphysis. Discussion: Children with DCD experience chronic pain, weakness, decreased endurance and impaired flexibility. DCD is a mulitisymptom syndrome that can masquerade and hinder proper diagnosis of other underlying problems. Slipped capital femoral epiphysis or SCFE is a common hip disorder that occurs in adolescents. It is known to be associated with trauma and obesity and presents with hip/knee pain, limp, and painful range of motion. There is increased incidence of DCD in premature children, and children with DCD are at higher risk for being overweight secondary to their inactivity. Close correlations between rising obesity and higher prevalence of painful lower extremity malalignment syndromes, such as SCFE, have been reported. However, there are no prior case reports in which DCD co-exists with SCFE. Conclusions: It is already known that prematurity increases a child’s risk of DCD and that DCD can lead to obesity, but no clear correlation between gross motor delay and SCFE has yet been concluded. DCD may mask other diagnoses; therefore, it is important to have an increased index of suspicion. In the end, prematurity leading to DCD
POSTER PRESENTATIONS
may increase the risk for SCFE and other orthopedic complications. Keywords: Rehabilitation, Slipped capital femoral epiphysis, Developmental coordination delay, Prematurity.
Poster 162 Spinal Muscular Atrophy Type II, A Progressive Congenital Muscular Debilitating Condition: A Case Report. Hector A. Miranda, MD (Jackson Memorial Hospital, Miami, FL); Kester Nedd, DO. Disclosures: H. A. Miranda, Jackson Memorial Hospital, Employment Patients or Programs: A 21-year-old Haitian man. Program Description: Case of a 21-year-old Haitian male who has had progressive muscle weakness since early age. His neonatal course was uneventful as well as his mother’s gestational period. He achieved his motor milestones within the normal age range until his mother first noticed his weakness when the patient developed difficulty walking after 18 months of age. The patient would crawl his way around until age 14, after which time he was too weak to do so. He remained bed bound since then. He has no family history of muscular dystrophy. There is no consanguinity between his parents. He had been hospitalized a few times prior to our evaluation due to respiratory compromise, secondary to failure of mucous plug expectoration. He also suffered from chronic back pain, severe kyphoscoliosis and a poor nutritional status. He was consulted to rehabilitation after he was hospitalized for an episode of community-acquired pneumonia. His muscle weakness precluded him from achieving more autonomy in most of his functional independence goals, for which reason his stay in the acute rehabilitation unit was short. Setting: Acute inpatient rehabilitation unit. Results: The patient’s debilitating condition is due to spinal muscular atrophy Type II (SMA-II). His kyphoscoliosis (directly related to his condition) severely compromises his lung vital capacity, putting him at risk of developing secondary pulmonary hypertension and recurrent pulmonary infections. Despite his condition he has thrived in life and is on his way to complete a degree in business management. Discussion: SMA-II is an autosomal recessive condition caused by loss of exons 7 and 8 of the Survival Motor Neuron 1 gene on both alleles. It is a unique kind of muscular dystrophy considering that it spares cognitive function. Nevertheless, strong determination and family support is crucial in order for these patients to thrive socially within their disability. Conclusions: SMA-II is an irreversible progressive muscular debilitating condition that renders patients totally dependent for activities of daily living but doesn’t necessarily preclude them from achieving academic success or a vocation suited to their handicap. Keywords: Rehabilitation, Spinal muscular atrophy.