In this study, we reported a case of progressive pseudorheumatoid dysplasia in Peking University Third Hospital. A 56-year-old male patient presented with hip joint pain for more than 40 years and multiple joints pain with limitation of movements of these joints for 28 years. This patient suffered from joint pain and impaired range of motion of the hip, knee, elbow and shoulder gradually, associated with difficulty in walking and inability to take care of himself. He was diagnosed with "femoral head necrosis" or "ankylosing spondylitis" in local hospitals, but the treatment of nonsteroidal antiinflammatory drugs (NSAIDs) and sulfasalazine was not effective. Up to the age of 14, the patient displayed normal physical development, with the highest height was about 158 cm, according to the patient recall. However, his height was 153 cm at present. There was no history of similar illness in any family member. Physical examinations descried limitation of movement of almost all joints. Enlargement and flexion deformity of the proximal interphalangeal (PIP) joints of the hands resulted in the claw hand appearance. Limited abduction and internal and external rotation of the shoulder and hip could be find. He had normal laboratory findings for blood routine test, biochemical indexes and acute phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Furthermore, HLA-B27 and autoimmune antibodies such as rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibody and antinuclear antibody (ANA) were all negative. X-ray of the hip showed loss of the joint space and irregularities of the femoral head, both femoral head were flattened, it could be see hyperplasia, osteophytes, bilateral femoral neck thicken, neck dry angle turned smaller. The radiological findings of the spinal vertebra indicated kyphosis deformity, narrowing of the intervertebral discs, vertebral syndesmophytes and flattening of the vertebra. However, there was no clues of bone marrow edema in the lumbar MRI. At last, genetic testing for the Wnt1-inducible signaling pathway protein 3 (WISP3) gene was done and indicated compound heterozygous mutations: 756C>G and c.866dupA. These two mutations were derived from the patient's mother and father (the patient's parents each had a heterozygous mutation). Two exons of the WISP3 gene had nucleotide changes leading to amino acid mutations. According to the patient's history, symptoms, physical examinations, radiological findings and genetic testing, the final definitive diagnosis was progressive pseudorheumatic dysplasia.
Cerebral Palsy ; Heterozygote ; Hip/pathology* ; Humans ; Joint Diseases/etiology* ; Male ; Microcephaly ; Middle Aged ; Spondylitis, Ankylosing/diagnosis*

Progression of hip displacement is common in patients with cerebral palsy (CP). We aimed to investigate the rate of progression of hip displacement in patients with CP by assessing changes in radiographic indices according to Gross Motor Function Classification System (GMFCS) level during hip surveillance. We analyzed the medical records of patients with CP aged < 20 years who underwent at least 6 months interval of serial hip radiographs before any surgical hip intervention, including reconstructive surgery. After panel consensus and reliability testing, radiographic measurements of migration percentage (MP), neck-shaft angle (NSA), acetabular index (AI), and pelvic obliquity (PO) were obtained during hip surveillance. For each GMFCS level, annual changes in radiographic indices were analyzed and adjusted for affecting factors, such as sex, laterality, and type of CP. A total of 197 patients were included in this study, and 1,097 radiographs were evaluated. GMFCS classifications were as follows: 100 patients were level I-III, 48 were level IV, and 49 were level V. MP increased significantly over the duration of hip surveillance in patients with GMFCS levels I-III, IV, and V by 0.3%/year (P < 0.001), 1.9%/year (P < 0.001), and 6.2%/year (P < 0.001), respectively. In patients with GMFCS level IV, NSA increased significantly by 3.4°/year (P < 0.001). Our results suggest that periodic monitoring and radiographic hip surveillance is warranted for patients with CP, especially those with GMFCS level IV or V. Furthermore, physicians can predict and inform parents or caregivers regarding the progression of hip displacement in patients with CP.
Cerebral Palsy/diagnostic imaging/*pathology ; Child ; Disease Progression ; Female ; Hip Dislocation ; Humans ; Linear Models ; Male ; Reconstructive Surgical Procedures ; Retrospective Studies ; Severity of Illness Index ; Sex Factors

OBJECTIVETo measure gray matter volume of whole brain with voxel-based morphometry (VBM) method and to study brain structures associated with gross motor function.

METHODForty children with cerebral palsy were recruited in the authors' hospital from Oct. 2012 to Dec. 2013 (26 male, 14 female cases, average age (3.6 ± 2.0) years ). Gross motor function classification system (GMFCS) for children was used to obtain their motor function. The whole-brain three dimensional magnetic resonance imaging (MRI) was performed on a 3.0 T MRI scanner. The data were segmented by VBM 5, and the whole brain volumes of gray matter, white matter and cerebospinal fluid were produced. Correlation analysis was used to analyze the correlation of GMFCS with whole brain volumes using SPM 5 in Matalab 7.1.

RESULTThe volume in left meditemporal gyrus (Z=3.57) and inferior temporal gyrus (Z=3.40), right thalamus and pallidum (Z=3.36), left thalamus and pallidum (Z=2.76), left supramarginal gyrus (Z=3.14), left precuneus gyrus (Z=3.00), right dorsolateral superior frontal gyrus (Z=3.08), right superior and medial occipital gyrus (Z=2.84) significantly increased as aggravation of gross motor dysfunction. The volume of the left medial orbitofrontal lobe and anterior cingulate (Z=3.28,3.02), left medial superior frontal gyrus (Z=3.19), left caudate (Z=3.04, 2.94, 2.92), left cerebellum (Z=2.94), right cerebellum (Z=2.97), left parahippocampal (Z=3.94), right parahippocampal (Z=3.43, 3.00), left insula (Z=3.50), right insula (Z=3.41, 3.80), left lingual (Z=3.37), right lingual (Z=3.30), left post cingulum (Z=2.73), left midioccipital gyrus (Z=2.92) and right miditemporal gyrus (Z=3.05) significantly reduced as the aggravation of gross motor dysfunction (P all<0.005).

CONCLUSIONGMFCS in children with cerebral palsy is related to abnormalities of brain gray matter structure for motor, emotion, memory and default model network when examined with VBM method.

Cerebral Palsy ; physiopathology ; Child, Preschool ; Female ; Gray Matter ; pathology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male

PURPOSE: This study aimed to investigate useful parameters for estimating gastrocnemius (GCM) muscle volume (MV) using ultrasonography (US) and anthropometry in children with spastic cerebral palsy (CP). MATERIALS AND METHODS: Eighteen legs from nine children with spastic CP aged 2 to 6 years were investigated in this study. Tibial length (TL) of each leg was measured and muscle thickness (MT) and anatomical cross-sectional area (aCSA) of GCM muscles were assessed using US. The volume of the GCM was measured by magnetic resonance imaging (MRI) scans. The relationship of TL, MT, and aCSA with MV measured by MRI was investigated. Simple and multiple regression analyses were performed to establish muscle volume prediction equations. RESULTS: Resting MT, aCSA, and TL were highly related to MV of both medial and lateral head of GCM determined by MRI. The MV prediction equation based on simple regression analysis resulted in r2 values ranging from 0.591 to 0.832 (p<0.05). The r2 values were higher using aCSA as independent variable than using MT. The MV prediction equation based on multiple regression analysis resulted in r2 values ranging from 0.779 to 0.903 (p<0.05). However, the relatively high standard error of the estimate values ranged from 18.0-33.6% on simple regression and 15.5-25.6% on multiple regression. The contribution of aCSA was higher than that of MT for predicting MV of GCM. CONCLUSION: Our study demonstrated the suitability of US assessment of aCSA and MT combined with TL for estimating MV of GCM in children with spastic CP and showed that aCSA is more useful parameter than MT.
Cerebral Palsy/*pathology/ultrasonography ; Child ; Child, Preschool ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal/*pathology/ultrasonography

OBJECTIVECerebral infarction (CI) is one of severe diseases of central nervous system in neonates, and some infants with CI could have poor prognosis in the long term. This study aimed to analyze the clinical data and prognosis of all neonatal cases with cerebral infarction in recent years and to help future clinical work.

METHODTotally 58 neonatal cases with CI admitted to NICU of the hospital from January 1999 to December 2010 were included in this study. We analyzed all clinical data and prognosis by retrospective analysis.

RESULTSFifty-two term babies and six preterm babies were included. There were altogether 51 cases with asphyxia and 7 with hemorrhagic cerebral infarction. Perinatal hypoxia-ischemia was the most common high-risk factor and it accounted for 46.6%. Seizure was the most frequent initial symptom and the most common clinical manifestation (accounted for 77.6%), and it was followed by intermittent cyanosis, apnea and lethargy. Cerebral CT scan and magnetic resonance imaging were major methods to help to make the diagnosis and they also had close relation with prognosis. Diffusion weighted imaging was very helpful to diagnose infarction in early stage. Left middle cerebral artery was the most common artery to be involved. Supportive therapy and symptomatic treatment were the main methods in the acute stage of neonatal cerebral infarction. Those babies with poor prognosis mostly had large infarction involving cerebral hemisphere, thalamus and basal ganglia.

CONCLUSIONSNeonatal cerebral infarction was a severe brain injury affecting long tern nervous system prognosis. Perinatal hypoxia was the most common high-risk factor and seizure was the most frequent initial symptom. Diffusion weighted imaging was valuable to diagnose infarction in early stage. Most of infants with poor prognosis had large infarction involving hemisphere, thalamus and basal ganglia. Early diagnosis with brain imaging would be helpful for rehabilitation therapy and improving prognosis.

Brain ; diagnostic imaging ; pathology ; Cerebral Infarction ; diagnosis ; etiology ; pathology ; therapy ; Cerebral Palsy ; etiology ; Humans ; Hypoxia-Ischemia, Brain ; complications ; Incidence ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Prognosis ; Radiography ; Retrospective Studies ; Risk Factors ; Seizures ; etiology ; Ultrasonography, Doppler, Color

Although the survival of preterm infants has improved with advances in perinatal care, the occurrence of cerebral palsy has increased further, because infants who would previously have died now survive with their cerebral pathology. In several observational studies, preterm infants whose mothers received magnesium sulfate were reported to have marked reductions in cerebral palsy, as compared with infants of untreated mothers. From meta-analyses of 5 randomized controlled trials of magnesium sulfate therapy given to the mother prior to very preterm birth, magnesium sulfate reduced the rate of cerebral palsy by approximately 30% (relative risk [RR] 0.68, 95% confidence interval [CI] 0.54-0.87) and moderate to severe cerebral palsy (by 40-45%) without increasing the rate of death in 6,145 infants (RR 10.4, 95% CI 0.92-1.17). Given the relative safety of magnesium sulfate for the mother and the lack of evident risk regarding infant mortality, magnesium sulfate should be considered for use as a neuroprotectant in the setting of anticipated preterm birth.
Cerebral Palsy ; Humans ; Infant ; Infant Mortality ; Infant, Newborn ; Infant, Premature* ; Magnesium Sulfate* ; Magnesium* ; Mothers ; Pathology ; Perinatal Care ; Premature Birth

Brain ; diagnostic imaging ; pathology ; Cerebral Palsy ; diagnosis ; pathology ; Cognition Disorders ; diagnosis ; pathology ; Early Diagnosis ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases ; diagnosis ; pathology ; Language Disorders ; diagnosis ; pathology ; Leukomalacia, Periventricular ; complications ; diagnosis ; pathology ; Magnetic Resonance Imaging ; methods ; Prognosis ; Radiography ; Severity of Illness Index

BACKGROUND: We evaluated the clinical and radiological results of one-stage correction for cerebral palsy patients. METHODS: We reviewed clinical outcomes and radiologic indices of 32 dysplastic hips in 23 children with cerebral palsy (13 males, 10 females; mean age, 8.6 years). Ten hips had dislocation, while 22 had subluxation. Preoperative Gross Motor Function Classification System (GMFCS) scores of the patients were as follows; level V (13 patients), level IV (9), and level III (1). Acetabular deficiency was anterior in 5 hips, superolateral in 7, posterior in 11 and mixed in 9, according to 3 dimensional computed tomography. The combined surgery included open reduction of the femoral head, release of contracted muscles, femoral shortening varus derotation osteotomy and the modified Dega osteotomy. Hip range of motion, GMFCS level, acetabular index, center-edge angle and migration percentage were measured before and after surgery. The mean follow-up period was 28.1 months. RESULTS: Hip abduction (median, 40degrees), sitting comfort and GMFCS level were improved after surgery, and pain was decreased. There were two cases of femoral head avascular necrosis, but no infection, nonunion, resubluxation or redislocation. All radiologic indices showed improvement after surgery. CONCLUSIONS: A single event multilevel surgery including soft tissue, pelvic and femoral side correction is effective in treating spastic dislocation of the hip in cerebral palsy.
Adolescent ; Arthroplasty/*methods ; Cerebral Palsy/*complications ; Child ; Child, Preschool ; Female ; Hip Dislocation/*etiology/*surgery ; Hip Joint/pathology/radiography/*surgery ; Humans ; Male ; Osteotomy ; Pain/etiology ; Range of Motion, Articular ; Tomography, X-Ray Computed

BACKGROUND: Detection of postoperative spinal cord level change can provide basic information about the spinal cord status, and electrophysiological studies regarding this point should be conducted in the future. METHODS: To determine the changes in the spinal cord level postoperatively and the possible associated factors, we prospectively studied 31 patients with scoliosis. All the patients underwent correction and posterior fusion using pedicle screws and rods between January 2008 and March 2009. The pre- and postoperative conus medullaris levels were determined by matching the axial magnetic resonance image to the sagittal scout image. The patients were divided according to the change in the postoperative conus medullaris level. The change group was defined as the patients who showed a change of more than one divided section in the vertebral column postoperatively, and the parameters of the change and non-change groups were compared. RESULTS: The mean pre- and postoperative Cobb's angle of the coronal curve was 76.80degrees +/- 17.19degrees and 33.23degrees +/- 14.39degrees, respectively. Eleven of 31 patients showed a lower conus medullaris level postoperatively. There were no differences in the pre- and postoperative magnitude of the coronal curve, lordosis and kyphosis between the groups. However, the postoperative degrees of correction of the coronal curve and lumbar lordosis were higher in the change group. There were also differences in the disease entities between the groups. A higher percentage of patients with Duchene muscular dystrophy had a change in level compared to that of the patients with cerebral palsy (83.3% vs. 45.5%, respectively). CONCLUSIONS: The conus medullaris level changed postoperatively in the patients with severe scoliosis. Overall, the postoperative degree of correction of the coronal curve was higher in the change group than that in the non-change group. The degrees of correction of the coronal curve and lumbar lordosis were related to the spinal cord level change after scoliosis correction.
Adolescent ; Adult ; Cerebral Palsy/complications ; Child ; Female ; Humans ; Kyphosis/radiography ; Lordosis/radiography ; Lumbar Vertebrae/radiography/surgery ; *Magnetic Resonance Imaging ; Male ; Muscular Dystrophy, Duchenne/complications ; Prospective Studies ; Scoliosis/complications/radiography/*surgery ; Severity of Illness Index ; Spinal Cord/*pathology ; Thoracic Vertebrae/radiography/surgery ; Young Adult

PURPOSE: To identify the characteristics of static standing balance and its postural control mechanisms during quiet side-by-side standing and the changes in these measures whilst wearing hinged ankle-foot orthoses (AFOs) in children with bilateral spastic cerebral palsy (CP). MATERIALS AND METHODS: Twenty-one children with bilateral spastic CP (6.10 +/- 1.09 year-old) and 22 typically developing (TD) children (5.64 +/- 0.49 year-old) were recruited. Pressure data were recorded while subjects with or without AFOs stood on dual force platforms and net body center of pressure (CoP) coordinates were calculated from this data. Net body CoP was traced for measuring mediolateral (ML) and anteroposterior (AP) displacement and path length per second. Correlation coefficients between parameters representing ankle, hip, and transverse body rotation strategies were also analyzed. RESULTS: ML and AP displacement and path length per second of the CoP trajectory were higher in children with CP compared to TD children (p < 0.05). There were no significant improvements in these parameters whilst wearing hinged AFOs. Compared to TD children, children with CP used less ankle strategy though more hip and transverse rotation strategies for postural control during quiet standing. Whilst wearing hinged AFOs, the contribution of ankle strategy was significantly increased for ML balance control in children with CP (p < 0.05). CONCLUSION: Hinged AFOs for children with CP may be helpful in improving the postural control mechanisms but not the postural stability in quiet side-by-side standing.
Ankle Joint/*pathology ; Cerebral Palsy/rehabilitation/*therapy ; Child ; Child, Preschool ; Humans ; Male ; *Orthotic Devices ; Postural Balance/*physiology