Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ankles, and gait disturbance. Magnetic resonance imaging of the brain revealed findings suspicious of sequelae from a previous insult, such as periventricular leukomalacia, leading to the diagnosis of CP. However, she had a history of hepatosplenomegaly when she was a fetus and her motor development had deteriorated, with symptoms of vertical supranuclear gaze palsy, cataplexy, and ataxia developing gradually. Therefore, NP-C was considered and confirmed with a genetic study, which showed mutation of the NPC1 gene. Thus, if a child with CP-like symptoms presents with a deteriorating course and NP-C-specific symptoms, NP-C should be cautiously considered.

Effects of Therapeutic Horseback Riding on Cognition and Language in Children With Autism Spectrum Disorder or Intellectual Disability: A Preliminary Study

OBJECTIVE: To investigate if therapeutic horseback riding (THR) can improve language and cognitive function in children with autism spectrum disorder (ASD) or intellectual disability (ID). METHODS: We conducted a prospective case-control study on children diagnosed with ASD or ID. Eighteen and 11 children were enrolled for THR and control groups, respectively. For 8 weeks, those in the THR group underwent conventional therapy plus 30 minutes of THR per week while controls only received conventional therapy. Participants’ language (using Receptive and Expressive Vocabulary Test [REVT] and Preschool Receptive-Expressive Language Scale [PRES]) and cognitive abilities (using Kaufman Assessment Battery for Children [K-ABC] and the cognitive domain of Bayley Scales of Infant Development-II [BSID-II]) were assessed at baseline and at 8 weeks after treatment. RESULTS: There was no baseline difference between the two groups. In the THR group, there were statistically significant improvements in most domains after THR including receptive and expressive language and cognition compared to those before THR. In the control group, however, only receptive vocabulary ability assessed by REVT and cognitive function assessed by BSID-II showed improvements after conventional therapy. However, there were no statistically significant differences in language or cognitive abilities between the two groups at 8 weeks after treatment. CONCLUSION: These results suggest that THR might improve language and cognitive abilities. Although the mechanisms and pathways involved in such improvements are currently unclear based on our findings, THR might have potential to optimize language and cognitive abilities of children with ASD and ID.

Rehabilitation in Children With Sclerodermoid Chronic Graft-Versus-Host Disease: Case Series

Joint contracture in chronic graft-versus-host disease (cGVHD) is refractory to treatment, and tends to deteriorate gradually over time. There is scant clinical research focusing on timing and intensity of rehabilitation on joint contractures in children with sclerodermoid cGVHD after hematopoietic stem cell transplantation. We retrospectively reviewed rehabilitative therapeutic effects in 6 children with sclerodermoid cGVHD, whose clinical records documented their condition, before and after rehabilitation therapies. Three children who started treatment within a mean of 2 months after the onset of joint symptoms, and who underwent home-based exercise twice daily for 30 minutes showed more prominent improvement in range of motion compared with the other 3 children, who started rehabilitation therapy later than 6 months after onset of joint symptoms, without regular home-based exercise.

Visual Evoked Potential in Children With Developmental Disorders: Correlation With Neurodevelopmental Outcomes

OBJECTIVE: To investigate the neurodevelopmental outcomes in children with developmental disorder according to visual evoked potential (VEP) results. METHODS: We retrospectively analyzed children who visited our Department of Pediatric Rehabilitation Medicine with a chief complaint of developmental disability from January 2001 to July 2015. Of the 549 medical records reviewed, 322 children younger than 42 months who underwent both Bayley Scales of Infant and Toddler Development second edition (BSID-II) and VEP studies were enrolled. We compared the development of 182 children with normal VEP latency and 140 children with delayed VEP latency results using the BSID-II results. The Mann-Whitney U-test was used to analyze the differences between the two groups. RESULTS: There were no significant differences in baseline characteristics between the two groups. The delayed VEP latency group showed a significant delay in BSID-II index scores and developmental quotients compared with the normal VEP latency group. In addition, a comparative analysis of developmental quotients of mental and psychomotor domains according to age (younger than 12 months, 12–23 months, and 24–42 months) revealed significantly lower values in children with delayed VEP latency compared to children with normal VEP latency, younger than 12 months and from 12 to 23 months. CONCLUSION: Children with delayed VEP latency showed more developmental delay than children with normal VEP latency. It is suggested that VEP can be easily applied to children with suspected developmental delay when physicians have concerns about visual impairment. Furthermore, it is proposed that VEP results could provide an insight into children's development and serve as early indicators for consultation with an ophthalmologist for the existing problem.

Comparison of Second and Third Editions of the Bayley Scales in Children With Suspected Developmental Delay

OBJECTIVE: To compare the scores of the Bayley Scales of Infant Development second edition (BSID-II) and the third edition, Bayley-III, in children with suspected developmental delay and to determine the cutoff score for developmental delay in the Bayley-III. METHODS: Children younger than 42 months (n=62) with suspected developmental delay who visited our department between 2014 and 2015 were assessed with both the BSID-II and Bayley-III tests. RESULTS: The mean Bayley-III Cognitive Language Composite (CLC) score was 5.8 points higher than the mean BSID-II Mental Developmental Index (MDI) score, and the mean Bayley-III Motor Composite (MC) score was 7.9 points higher than the mean BSID-II Psychomotor Developmental Index (PDI) score. In receiver operating characteristic (ROC) analysis of a BSID-II MDI score < 70, Bayley-III CLC scores showed a cutoff of 78.0 (96.6% sensitivity and 93.9% specificity). In ROC analysis of a BSID-II PDI score < 70, the Bayley-III MC score showed a cutoff of 80. CONCLUSION: There was a strong correlation between the BSID-II and Bayley-III in children with suspected developmental delay. The Bayley-III identified fewer children with developmental delay. The recommended cutoff value for developmental delay increased from a BSID-II score of 70 to a Bayley-III CLC score of 78 and Bayley-III MC score of 80.

Korean Database of Cerebral Palsy: A Report on Characteristics of Cerebral Palsy in South Korea

OBJECTIVE: To introduce the Korean Database of Cerebral Palsy (KDCP) and to provide the first report on characteristics of subjects with cerebral palsy (CP). METHODS: The KDCP is a nationwide database of subjects with CP, which includes a total of 773 subjects. Characteristics such as demography, birth history, onset and type of CP, brain magnetic resonance imaging (MRI) findings, functional ability and accompanying impairments, were extracted and analyzed. RESULTS: Preterm delivery and low birth weight were found in 59.51% and 60.28% of subjects, respectively. Postnatally acquired CP was 15.3%. The distribution of CP was 87.32%, 5.17%, and 1.81% for spastic, dyskinetic, and ataxic types, respectively. Functional ability was the worst in dyskinetic CP, as compared to other types of CP. Speech-language disorder (43.9%), ophthalmologic impairment (32.9%), and intellectual disability (30.3%) were the three most common accompanying impairments. The number of accompanying impairments was elevated in subjects with preterm birth and low birth weight. Brain MRI showed normal findings, malformations, and non-malformations in 10.62%, 9.56%, and 77.35% of subjects, respectively. Subjects with normal MRI findings had better functional ability than subjects with other MRI findings. MRI findings of a non-malformation origin, such as periventricular leukomalacia, were more common in subjects with preterm birth and low birth weight. CONCLUSION: The KDCP and its first report are introduced in this report, wherein the KDCP established agreement on terminologies of CP. This study added information on the characteristics of subjects with CP in South Korea, which can now be compared to those of other countries and ethnicities.

The Effect and Complication of Botulinum Toxin Type A Injection with Serial Casting for the Treatment of Spastic Equinus Foot

OBJECTIVE: To identify the effect of serial casting combined with Botulinum toxin type A (BTX-A) injection on spastic equinus foot. METHOD: Twenty-nine children with cerebral palsy who had equinus foot were recruited from the outpatient clinic of Rehabilitation Medicine. The children were divided into 2 groups, one of which received serial casting after BTX-A injection, and the other which only received BTX-A injection. Serial casting started 3 weeks after the BTX-A injection, and was changed weekly for 3 times. Spasticity of the ankle joint was evaluated using the modified Ashworth scale (MAS), and the modified Tardieu scale (MTS). Gait pattern was measured using the physician's rating scale (PRS). RESULTS: The degree of ankle dorsiflexion and the MAS improved significantly until 12 weeks following the BTX-A injection in the serial casting group (p<0.001), while the BTX-A injection-only group improved until 6 weeks following injection (p<0.05). The combined group showed a significantly greater increase in the degree of dorsiflexion compared to the BTX-A injection-only group at post-injection weeks 6 and 12 (p<0.05). Three children (11.5%) suffered from foot ulcers as a complication caused by the serial casting. CONCLUSION: Our study demonstrated that the effect of BTX-A injection with serial casting was superior and lasted longer than the effect of BTX-A injection only in patients with spastic equinus foot. We therefore recommend BTX-A injection with serial casting for the treatment of equinus foot. However, physicians must also consider the possible complications associated with serial casting.

Prediction of Treatment Outcome with Bioimpedance Measurements in Breast Cancer Related Lymphedema Patients

OBJECTIVE: To investigate the usefulness of bioimpedance measurement for predicting the treatment outcome in breast cancer related lymphedema (BCRL) patients. METHOD: Unilateral BCRL patients who received complex decongestive therapy (CDT) for 2 weeks (5 days per week) were enrolled in this study. We measured the ratio of extracellular fluid (ECF) volume by using bioelectrical impedance spectroscopy (BIS), and single frequency bioimpedance analysis (SFBIA) at a 5 kHz frequency before treatment. Arm circumferences were measured at 10 cm above and below the elbow before and after treatment. We also investigated whether there is correlation between ECF ratio and SFBIA ratio with the change of arm circumference after CDT. RESULTS: A total of 73 patients were enrolled in this study. The higher ECF ratio was significantly correlated with higher reduction of arm circumference at both above and below the elbow after treatment, but the higher SFBIA ratio was correlated only with the higher reduction of arm circumference below the elbow. CONCLUSION: These results show that ECF volume measurements and SFBIA before treatment are useful tools for predicting the outcome of patients with lymphedema. We concluded that ECF volume measure can be used as a screening tool for predicting treatment outcome of BCRL patients.

Causes, Clinical Features and Functional Outcome of Pediatric Stroke

OBJECTIVE: To investigate the changes of causes, clinical features, and functional outcomes in childhood strokes. METHOD: This study included 152 patients, aged from 1 to 18 years, who were diagnosed with stroke and admitted to a tertiary hospital between January 2000 and April 2004. All medical records and neurologic images of the patients were reviewed. A parental questionnaire was used to investigate patients' functional outcomes. These results were compared with those of the previous study performed in the same hospital in 2001. RESULTS: The number of hemorrhagic stroke was 78 (51.3%) and that of ischemic stroke was 74 (48.7%). When compared to the previous study, the incidence of hemorrhagic stroke especially above the age of 10 years decreased and that of ischemic stroke below the age of 10 years increased. The causes of stroke were arteriovenous malformation (AVM, 42.8%), Moyamoya disease (37.5%), vasculitis (5.3%), cardiac disease (3.9%), hematologic disease (2.0%), and undetermined (8.5%). Common clinical features were headache (53.8%), vomiting (43.6%) and loss of consciousness (28.2%) in the hemorrhagic stroke, and hemiparesis (94.6%), headache (35.1%) and speech disorder (31.1%) in the ischemic stroke. 86.0% of the hemorrhagic and 64.8% of the ischemic stroke patients were categorized in the 'good' outcome group. CONCLUSION: The incidence of ischemic stroke increased to the similar level of hemorrhagic stroke. The most common causes were AVM in the hemorrhagic and Moyamoya disease in the ischemic stroke. Most of these patients showed good functional outcome, regardless of the causes of stroke.

Current Status of Pediatric Rehabilitation Services for Children with Disabilities

OBJECTIVE: To survey the current status of rehabilitation programs for disabled children in Korea. METHOD: Questionnaires were distributed to hospitals and rehabilitation centers around the country which provides pediatric rehabilitation services to disabled children. Questions included the number of physiatrists, therapists specialized in managing children, frequency and duration of therapeutic session, waiting period required to receive the therapy, and burden of costs, etc. RESULTS: Survey found 2.2 mean number of physiatrists in 45 hospitals and only one rehabilitation center had full time physiatrist among 21 rehabilitation centers. These institutions had mean number of 2.3 physical therapists, 1.4 occupational therapists, and 1.1 speech therapists. According to parents, these children received average of 16 times of therapeutic sessions in a month. For most of patients, they had to wait 6.8 months to start the physical therapy, 9.4 months for occupational therapy, and 13.8 months for speech therapy. The whole cost of receiving the treatment was found to be 586,000 won in a month. CONCLUSION: Survey found the medical health system and human resources related to pediatric rehabilitation were not enough and they have to be supported to satisfy the needs of appropriate pediatric rehabilitation program around the country.

Segmental Spinal Dysgenesis: Case report

Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. Segmental vertebral anomalies involve the thoracolumbar, lumbar, or lumbosacral spine. We report two cases of SSD associated with other spinal dysraphism. Radiologic investigations revealed segmental dysgenesis of thoracic spinal cord without an associated vertebral bony anomaly in one case and segmental dysgenesisof the cervico-thoracic cord with diastematomyelia in the other case. The neurologic picture depends on the severity of the malformation and on its segmental level along the longitudinal embryonic axis. The pathogenesis of SSD syndrome is not clear but its cause is probably related to a segmental maldevelopment of the neural tube.

Comparison of Early Postoperative Axillary Morbidity Following the Sentinel Lymph Node Biopsy or Axillary Lymph Node Dissection / 한국유방암학회지

PURPOSE: Sentinel lymph node biopsy (SLNB) is a relatively accurate diagnostic method for determining the presence of axillary lymph node metastasis (ALND). SLNB reduces the need for axillary lymph node dissection, thereby decreasing the postoperative axillary morbidity. The present study compared the postoperative axillary morbidity rates during early postoperative days for patients undergoing either SLNB or conventional ALND. METHODS: We conducted a prospective case-control study of breast cancer patients. The degree of axillary morbidity was compared between 28 SLNB patients (Group I) and 38 ALND patients (Group II). RESULTS: The SLNB group showed decreased arm swelling and restriction of their shoulder motion in comparison with the conventional axillary dissection group (p<0.05). SLNB and additional lymph node sampling did not result in any additional morbidity. CONCLUSION: SLNB or lymph node sampling was associated with less axillary morbidity like arm edema, limitation of motion than was conventional ALND. The rate of postoperative axillary morbidity did not differ following lymph node sampling and SLNB. SLNB may be an effective method for diagnosing of axillary lymph node metastasis with decreasing the postoperative axillary morbidity

The Functional Prognosis of Ambulation in Each Type of Cerebral Palsy

OBJECTIVE: This study is to investigate the prognosis of functional ambulation in each type of cerebral palsy (CP). METHOD: Medical records of 385 patients were retrospectively reviewed that visited outpatients department and were diagnosed as CP. Various information was surveyed including CP type, gestational age at birth, birth weight and associated problems such as mental retardation and seizure and gross motor functional status such as ambulational status and Gross Motor Functional Classification System (GMFCS). All of them were compared between each type. The influences of seizure and mental retardation on gross motor function were also investigated. RESULTS: Functional ambulation was achieved in 58.2% in overall. Inspecting in each type, 93.7% of spastic hemiplegia, 67.6% of spastic diplegia, 12.2% of spastic quadriplegia, 78.7% of dyskinetic type can ambulate functionally. Birth weight or gestational age had no independent influences on ambulation within each type. Seizure influenced negatively on ambulation of diplegic CPs with significance and mental retardation in diplegic CPs and quadriplegic CPs than any other type. CONCLUSION: Over the half of CP patients achieved functional ambulation. Hemiplegia and diplegia had good prognosis among all types. Seizure and mental retardation negatively affected ambulation function of CP patients, especially in diplegic CPs and quadriplegic CPs.

The Findings of 1H Magnetic Resonance Spectroscopy in Children with Mental Retardation or Autism

OBJECTIVE: To investigate the findings of patients with autism or mental retardation shown in 1H magnetic resonance spectroscopy (1H MRS) and the correlation between findings in 1H MRS and degree of language developmental delay. METHOD: 1H MRS was performed in thirty five patients with autism or mental retardation. [N-Acetylaspartate (NAA)/ Creatine (Cr)], [Choline (Cho)/Cr], and [Myoinositol (mI)/ Cr] were measured and compared with those of control group. Also the correlation between 1H MRS findings and the degree of language developmental delay was investigated. RESULTS: Increased [Cho/Cr] was shown in parietal white matter and frontal gray matter in patients with autism and mental retardation. No significant differences were revealed in any metabolite ratio between mental retardation and autism. There were no significant correlations between the degree of language developmental delay and metabolite ratios. CONCLUSION: Myelin degeneration in parietal white matter and fronal gray matter could be related to autism and mental retardation.

The Effects of Integrative Art Therapy on Social Competence and Hand Function of Children with Cerebral Palsy

OBJECTIVE: To determine the effects of integrative art therapy on social competence and hand function in children with cerebral palsy. METHOD: Nine children with cerebral palsy were given integrative art therapy and conventional occupational therapy for 50 minutes, once a week over 6 months. Ten children were selected as a control group and were given only conventional occupational therapy. To estimate the effectiveness of integrative art therapy, both groups were evaluated by Denver Developmental Screening Test (DDST-II), Box and Block test and Walker-McConnell scale before and after therapy. RESULTS: Children of integrative art therapy showed significant improvement in 'personal and social' category of DDST-II and 'adaptive behavior' and 'adjustment to social relationships with peers' of Walker-McConnell scale. They also showed improvement of Box and Block test. CONCLUSION: This study revealed that integrative art therapy was effective on social competence as well as hand function in children with cerebral palsy. So, integrative art therapy is expected to be an adjuvant therapy for children with cerebral palsy.

Effects of Intensive Early Rehabilitation Program in Postmastectomy Patients

OBJECTIVE: To investigate whether early postmastectomy rehabilitation program could improve shoulder function and upper limb edema. METHOD: 40 patients who underwent either a breast conserving procedure or a modified radical mastectomy were included. Among 40 patients, 20 patients recieved early postmastectomy rehabilitation program and 20 patients were recieved only instruction for exercise. The patients were assessed on the three days after surgery and one month after surgery. The range of motion (ROM) of shoulder, pain on mobility of shoulder and arm circumference were evaluated. RESULTS: One month after surgery, both groups showed improvements in shoulder motion range, pain and edema. But there were significantly better in early rehabilitation group than control group (p <0.05). CONCLUSION: We concluded that early postmastectomy rehabilitation program was beneficial in regaining the shoulder motion and in reduction of pain and edema.

Neurodevelopmental Outcome in Children Born after in vitro Fertilization

OBJECTIVE: To investigate neurodevelopmental long-term outcome in children born after in-vitro fertilization (IVF). METHOD: We performed retrospective study in which we investigated development of neurodevelopmental disability in 254 childern (113 twins, 28 singletons) born after in vitro fertilization between Janurary 1995 and December 1999. We obtained neurodevelopmental status on a certain date and disability of children from medical records or phone interviews of parents. We assessed developmental status, congenital malformation, cerebral palsy and seizure, speech disorder, other neurologic problems, prematurity, low birth weight, maternal age, intraventricular hemorrhage (IVH), retinopathy and congenital anomaly. RESULTS: Six children (2.3%) were diagnosed as cerebral palsy, three children (1.2%) as developmental delay and 11 had IVH, 6 had retinopathy, 10 had congenital anomaly (esp. abdominal wall defect). The mean maternal age was 30+/-2.8 years old and gestational age was 35+/-3.0 weeks. One hundred one children (39.7%) were born prematurely, 66.5% low birth weight. CONCLUSION: High prevalence of neurodevelopmental disabilities like cerebral palsy compared to population controls (cerebral palsy: 1.9/1000 live birth) was revealed. Therefore, we should know mild high risk of developmental disability and do developmental examination carefully in children born after IVF and long-term follow up.

The Therapeutic Effects of Body Weight-Supported Treadmill Training on Childeren with Cerebral Palsy

OBJECTIVE: To determine the effectiveness of body weight- supported treadmill training on gait pattern in children with cerebral palsy METHOD: Seventeen children with cerebral palsy were given with body weight-supported treadmill training. The gait training was offered on treadmill and they were trained five times a week, 20 minutes a session for three weeks. To evaluate the ambulatory function, we estimated the walking distance for one minute and gait analysis before and after the treatment. Gait analysis was done for 11 children with Vicon 370 computerized gait analyzer and linear parameters, kinematic and kinetic data were obtained. RESULTS: Walking distance for one minute increased from 6.74+/-6.16 m to 11.06+/-7.98 m. In linear parameters by gait analysis, gait speed (0.15+/-0.18 m/sec to 0.23+/-0.24 m/sec, p<0.05), cadence (53.0+/-26.3 steps/min to 65.9+/-35.7 steps/min, p<0.05), and stride length (0.30+/-0.17 meters to 0.35+/-0.18 meters, p<0.05) increased following body weight-supported treadmill training. Also, there was a significant difference in knee flexion during loading response. CONCLUSION: In rehabilitation of cerebral palsy, body weight- supported treadmill training improved gait pattern. So, we recommend this gait training method for children with cerebral palsy.

Acute Acalculous Cholecystitis in a Spinal Cord Injured Patient: A case report

Patients with spinal cord injury (SCI) have an increased prevalence of cholecystitis. Neurologically intact patients with cholecystitis usually complain biliary colic of the right upper quadrant (RUQ). Because of the inability to localize visceral pain in patients with SCI, the pattern of symptoms are quite different. We reported a case of 48-year-old man with C5 incomplete tetraplegia (ASIA C) who presented an increased spasticity and vague pain of RUQ and later diagnosed as an acute acalculous cholecystitis. Antibiotics treatment and Percutaneous Transhepatic Gall Bladder Drainage (PTGBD) were performed. An open cholecystectomy was performed after the laparoscopic cholecystectomy which failed due to severe adhesion. Postoperatively, patient recovered well without complications. We suggested that even a vague abdominal pain shouldn't be underestimated in SCI patients.

Gait Analysis in Cervical Spondylotic Myelopathy at Pre- and Post-Surgery

OBJECTIVE: To investigate objectively the postoperative change of the gait pattern in patients with cervical myelopathy through gait analysis. METHODS: Thirty nine patients who underwent cervical decompression and fusion for cervical myelopathy were studied. Preoperatively, gait disturbance was present in all patients. The patients were evaluated with Nurick classification, Functional Independence measure (FIM) score and gait analysis using three dimensional motion analyzer before surgery, 1 week and 3 months after surgery. RESULTS: In the Nurick classification there was statistically significant change but no significant change in FIM score after surgery. In the gait analysis there were statistically significant improvements in all the linear parameters, kinetic (ankle plantarflexion moment) and kinematic (knee range of motion in swing phase) parameters (p<0.05). CONCLUSION: This study suggests that gait analysis can be used as a quantitative tools of postoperative gait improvement in patient with cervical myelopathy.