Muscle Characteristics in Pediatric Hereditary Spastic Paraplegia vs. Bilateral Spastic Cerebral Palsy: An Exploratory Study

Hereditary spastic paraplegia (HSP) is a neurological, genetic disorder that predominantly presents with lower limb spasticity and muscle weakness. Pediatric pure HSP types with infancy or childhood symptom onset resemble in clinical presentation to children with bilateral spastic cerebral palsy (SCP). Hence, treatment approaches in these patient groups are analogous. Altered muscle characteristics, including reduced medial gastrocnemius (MG) muscle growth and hyperreflexia have been quantified in children with SCP, using 3D-freehand ultrasound (3DfUS) and instrumented assessments of hyperreflexia, respectively. However, these muscle data have not yet been studied in children with HSP. Therefore, we aimed to explore these MG muscle characteristics in HSP and to test the hypothesis that these data differ from those of children with SCP and typically developing (TD) children. A total of 41 children were retrospectively enrolled including (1) nine children with HSP (ages of 9–17 years with gross motor function levels I and II), (2) 17 age-and severity-matched SCP children, and (3) 15 age-matched typically developing children (TD). Clinically, children with HSP showed significantly increased presence and severity of ankle clonus compared with SCP (p = 0.009). Compared with TD, both HSP and SCP had significantly smaller MG muscle volume normalized to body mass (p ≤ 0.001). Hyperreflexia did not significantly differ between the HSP and SCP group. In addition to the observed pathological muscle activity for both the low-velocity and the change in high-velocity and low-velocity stretches in the two groups, children with HSP tended to present higher muscle activity in response to increased stretch velocity compared with those with SCP. This exploratory study is the first to reveal MG muscle volume deficits in children with HSP. Moreover, high-velocity-dependent hyperreflexia and ankle clonus is observed in children with HSP. Instrumented impairment assessments suggested similar altered MG muscle characteristics in pure HSP type with pediatric onset compared to bilateral SCP. This finding needs to be confirmed in larger sample sizes. Hence, the study results might indicate analogous treatment approaches in these two patient groups.

An analysis of clinical risk factors for adolescent scoliosis caused by spinal cord abnormalities in China: Proposal for a selective whole-spine MRI examination scheme

Objective This study examined the risk factors for non-idiopathic scoliosis with intramedullary abnormalities(IA). Method The clinical data of adolescent patients between July 1, 2013, and December 31, 2018, were reviewed. According to the whole-spine MRI results, the patients were divided into either the idiopathic group or the intramedullary abnormality group. 12 data were compared between the two groups. Student’s t test and the chi-square test were used to evaluate the differences in the continuous variables and categorical variables. Logistic regression was used to evaluate the correlation between the multivariate risk factors and intramedullary abnormalities. Result A total of 714 adolescent patients with scoliosis with a mean age of 13.5 (10-18 years) were included in the study, and IA were found in 68 (9.5%) patients. There were statistically significant differences in the incidence rates of intramedullary abnormalities between males and females, left and right thoracic curvatures, angular scoliosis and smooth scoliosis, and abnormal abdominal wall reflex and ankle clonus (P<0.01). Logistic regression showed that the ratios for sex, scoliosis direction, scoliosis type, abdominal wall reflex and ankle clonus were 2.987, 3.493, 4.823, 3.94 and 8.083, respectively. The ROC curve showed a sensitivity of 66.18% and a specificity of 89.01%(0.5519). Conclusion The incidence of scoliosis caused by IA was approximately 9.5%.The risk factors associated with AS caused by abnormal IA included the male sex, thoracic scoliosis on the left side, a sharp curvature of the spine, an abnormal abdominal wall reflex and ankle clonus.

An analysis of clinical risk factors for adolescent scoliosis caused by spinal cord abnormalities in China: Proposal for a selective whole-spine MRI examination scheme

Objective This study examined the risk factors for non-idiopathic scoliosis with intramedullary abnormalities(IA). Method The clinical data of adolescent patients between July 1, 2013, and December 31, 2018, were reviewed. According to the whole-spine MRI results, the patients were divided into either the idiopathic group or the intramedullary abnormality group. 12 data were compared between the two groups. Student’s t test and the chi-square test were used to evaluate the differences in the continuous variables and categorical variables. Logistic regression was used to evaluate the correlation between the multivariate risk factors and intramedullary abnormalities. Result A total of 714 adolescent patients with scoliosis with a mean age of 13.5 (10-18 years) were included in the study, and IA were found in 68 (9.5%) patients. There were statistically significant differences in the incidence rates of intramedullary abnormalities between males and females, left and right thoracic curvatures, angular scoliosis and smooth scoliosis, and abnormal abdominal wall reflex and ankle clonus (P<0.01). Logistic regression showed that the ratios for sex, scoliosis direction, scoliosis type, abdominal wall reflex and ankle clonus were 2.987, 3.493, 4.823, 3.94 and 8.083, respectively. The ROC curve showed a sensitivity of 66.18% and a specificity of 89.01%(0.5519). Conclusion The incidence of scoliosis caused by IA was approximately 9.5%.The risk factors associated with AS caused by abnormal IA included the male sex, thoracic scoliosis on the left side, a sharp curvature of the spine, an abnormal abdominal wall reflex and ankle clonus.

An analysis of clinical risk factors for adolescent scoliosis caused by spinal cord abnormalities in China: Proposal for a selective whole-spine MRI examination scheme

Background This study examined the risk factors for non-idiopathic scoliosis with intramedullary abnormalities, explored the feasibility of whole-spine MRI, and provided a theoretical basis for the routine diagnosis and treatment of adolescent idiopathic scoliosis. Method The clinical data of adolescent scoliosis patients who were admitted to Shanghai Tongren Hospital and Shanghai Changhai Hospital between July 1, 2013, and December 31, 2018, were reviewed. According to the whole-spine MRI results, the patients were divided into either the idiopathic group or the intramedullary abnormality group. Sex, age, main curvature angle, main curvature direction, kyphosis angle, scoliosis type, coronal plane balance, sagittal plane balance, abdominal wall reflex, sensory abnormality, ankle clonus and tendon reflexes were compared between the two groups. Student’s t test was used to evaluate the differences in the continuous variables, and the chi-square test was used to evaluate the differences in the categorical variables. Fisher’s exact test was applied to detect the difference in the rate of intraspinal anomalies between the groups. Logistic regression was used to evaluate the correlation between the multivariate risk factors and intramedullary abnormalities. Result A total of 714 adolescent scoliosis patients with a mean age of 13.5 (10-18 years) were included in the study, and intramedullary abnormalities were found in 68 (9.5%) patients. There were statistically significant differences in the incidence rates of intramedullary abnormalities between males and females, left and right thoracic curvatures, angular scoliosis and smooth scoliosis, and abnormal abdominal wall reflex and ankle clonus (P<0.01). Logistic regression showed that the ratios for sex, scoliosis direction, scoliosis type, abdominal wall reflex and ankle clonus were 2.987, 3.493, 4.823, 3.94 and 8.083, respectively. The ROC curve showed a sensitivity of 66.18% and a specificity of 89.01%, and the Youden index corresponding to the optimal critical point was 0.5519. Conclusion Risk factors associated with adolescent scoliosis caused by abnormal intramedullary abnormalities included male sex, thoracic scoliosis on the left side, sharp curvature of the spine, abnormal abdominal wall reflex and ankle clonus. These clinical indicators suggest that there is a high-risk adolescent scoliosis population who should undergo whole-spinal MRI preoperatively to rule out intramedullary abnormalities.

Isovaleric Acidemia in a 5 Years of Boy: A Case Report

Isovaleric acidemia (IVA) is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase (IVD). In this case report a five years old boy was admitted to National Institute of Neurosciences and Hospital, Dhaka Bangladesh with the history of fever, cough, vomiting, diarrhea, stupor and extreme sleepiness for 3 days. Second degree consanguinity was documented between the parents. Neurological examination revealed exaggerated reflexes and ankle clonus was present bilaterally. EEG and MRI of brain had normal results. Urine organic acid analysis by gas chromatography-mass spectrometry showed slight increment in concentration of 3 hydroxyisovaleric acid and an elevated concentration of isovalerylglycine. Tandem mass spectrometry of acylcarnitines in dried blood spots showed elevated C5-carnitine isovalerylcarnitine (10.3umol/l). Based on history, clinical examination and laboratory results, a diagnosis of isovaleric academia was ascertained. Patient was treated accordingly with rehydration fluid, correction of metabolic acidosis, antibiotic and supportive care Journal of Current and Advance Medical Research 2019;6(1):64-66