Under the guidance and support of national policies in recent years, the community medical system has been developed rapidly, among which primary child healthcare is carried out routinely in community hospitals, greatly alleviating the pressure of specialized pediatric hospitals and departments of pediatrics in secondary and tertiary general hospitals. However, due to the lack of professional training for primary child healthcare personnel in community medical institutions, early symptoms of children with cerebral palsy cannot be identified and so children with cerebral palsy are often unable to receive early diagnosis and intervention, which may affect their prognosis. An article about international expert consensus and recommendations on early identification and referral of cerebral palsy in community medical institutions was published in
Cerebral Palsy/diagnosis* ; Child ; China ; Early Intervention, Educational ; Family ; Humans ; Referral and Consultation

Placental abruption is a condition that should be carefully considered in perinatal management because it is associated with serious events in both the mother and neonate, such as intrauterine fetal death, cerebral palsy, obstetric critical bleeding, and uncontrollable bleeding. The concomitant presence of disseminated intravascular coagulation (DIC) more easily causes critical bleeding that may necessitate hysterectomy or multi-organ failure resulting in maternal death. Therefore, early management should be provided to prevent progression to serious conditions by performing both hemostatic procedures and DIC treatment. To take measures to improve the outcomes in both the mother and neonate, health guidance for pregnant women, early diagnosis, early treatment, development of the emergency care system, and provision of a system for transport to higher-level medical institutions should be implemented.
Abruptio Placentae ; Cerebral Palsy ; Dacarbazine ; Disseminated Intravascular Coagulation ; Early Diagnosis ; Emergency Medical Services ; Female ; Fetal Death ; Fibrinogen ; Hemorrhage ; Humans ; Hysterectomy ; Infant, Newborn ; Maternal Death ; Mothers ; Obstetric Surgical Procedures ; Pregnancy ; Pregnant Women

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.
Ankle ; Ataxia ; Brain ; Cataplexy ; Cerebral Palsy ; Child ; Child, Preschool ; Diagnosis ; Female ; Fetus ; Gait ; Humans ; Infant, Newborn ; Leukomalacia, Periventricular ; Magnetic Resonance Imaging ; Muscle Spasticity ; Niemann-Pick Diseases ; Paralysis

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*

Dopa-responsive dystonia (DRD) is characterized by lower limb-onset, diurnally fluctuating dystonia and dramatic and sustained response to levodopa treatment. Segawa disease, an autosomal dominant deficiency of guanosine triphosphate cyclohydrolase 1 (encoded by GCH1) is the most common and well-known condition manifesting as DRD. However, similar clinical manifestations can be seen in individuals with deficiencies of other enzymes that are involved in the biosynthesis of dopamine. We describe the case of an 11-year-old girl who presented with abnormal gait, which had initially begun 2 years back. The patient showed diurnally fluctuating dystonia in both legs. She was able to walk without support in the morning, but was unable to stand without support in the evening. She had been diagnosed as having spastic cerebral palsy and had been managed with physical therapy at a local rehabilitation clinic. The patient had been healthy until the development of dystonia, and did not have a history of perinatal problems or developmental delay. Routine hematologic and biochemical test results were normal. Brain magnetic resonance imaging and electroencephalography showed no abnormalities. When levodopa was administered, the patient's abnormal gait dramatically improved 1 hour after receiving the medication. Genetic testing for the GCH1 gene revealed a missense mutation (c.293C>T [p.A98V]) that has previously been reported in patients with DRD. This case demonstrated that a levodopa trial is vital for accurate and early diagnosis of DRD in patients with dystonia resulting from an unknown cause.
Brain ; Cerebral Palsy* ; Child ; Diagnostic Errors ; Dopamine ; Dystonia* ; Early Diagnosis ; Electroencephalography ; Female ; Gait ; Genetic Testing ; Guanosine Triphosphate ; Humans ; Leg ; Levodopa ; Magnetic Resonance Imaging ; Mutation, Missense ; Rehabilitation

An 18-year-old male patient with cerebral palsy and scoliokyphosis came to the emergency department with abdominal distension and vomiting. He was a situs inversus patient with a feeding gastrostomy tube. Sigmoid volvulus was initially suspected, so rectal tube insertion and endoscopic decompression were attempted, but failed. So he went through explorative laparotomy, and transverse colonic adhesion and twisting around the gastrostomy tube and gastric wall was identified. Adhesiolysis and resection with redundant transverse colon and end-to-end colocolic anastomosis was performed. He discharged with symptom free. Suspecting transverse colonic volvulus is important when the patient has anatomical anomalies and feeding gastrostomy tube. Timely diagnosis with proper radiologic imaging should be made. Surgical resection of the redundant colon is needed for successful management of transverse colonic volvulus.
Adolescent ; Cerebral Palsy ; Colon ; Colon, Sigmoid ; Colon, Transverse ; Decompression ; Diagnosis ; Emergency Service, Hospital ; Gastrostomy ; Humans ; Intestinal Volvulus ; Laparotomy ; Male ; Scoliosis ; Situs Inversus ; Vomiting

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability caused by monocarboxylate transporter 8 (MCT8) deficiency. AHDS manifests in global developmental delay, axial hypotonia, quadriplegia, movement disorders in male patients, and most of them show the delayed or hypomyelination on brain magnetic resonance images. Typically, Triiodothyronine (T3) levels are markedly elevated, thyroid stimulating hormone (TSH) levels are normal or elevated, and free thyroxine (T4) levels are normal or decreased. In AHDS patients, early neurological manifestations are easily mistaken as cerebral palsy with unknown origin. Here, we present a novel c.826G>A mutation in a boy with severe axial hypotonia, limb dystonia and developmental delay. Thyroid function test including TSH, T3, and free T4 levels was the important clue for the diagnosis of AHDS of the patient.
Brain ; Cerebral Palsy ; Diagnosis ; Dystonia ; Humans ; Intellectual Disability ; Male* ; Movement Disorders ; Muscle Hypotonia ; Neurologic Manifestations ; Quadriplegia ; Thyroid Function Tests* ; Thyroid Gland* ; Thyrotropin ; Thyroxine ; Triiodothyronine

OBJECTIVE: To investigate the usefulness of the communication domain in the Korean version of Ages and Stages Questionnaire (K-ASQ), and short form of the Korean version of MacArthur-Bates Communicative Development Inventories (M-B CDI-K), as screening tests for language developmental delay. METHODS: Data was collected between April 2010 and December 2013, from children who visited either the Department of Physical Medicine and Rehabilitation or the Developmental Delay Clinic, presenting with language development delay as their chief complaint. All the children took the short form of M-B CDI-K and K-ASQ as screening tests, and received diagnostic language assessments including Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES). RESULTS: A total of 206 children, mean age 29.7 months, were enrolled. The final diagnoses were developmental language disorder, global developmental delay, autism spectrum disorder, cerebral palsy, etc. The M-B CDI-K short form and the communication domain of the K-ASQ had 95.9% and 76.7% sensitivity, and 82.4% and 85.3% specificity, with regards to diagnostic language assessments. The M-B CDI-K short form showed higher negative predictive value and better accuracy than the communication domain of the K-ASQ. CONCLUSION: The screening ability of K-ASQ was not sufficient for children with language development delay, and the M-B CDI-K short form should be implemented for additional screening.
Autism Spectrum Disorder ; Cerebral Palsy ; Child ; Diagnosis ; Equipment and Supplies ; Humans ; Infant ; Language Development Disorders ; Language Development* ; Mass Screening* ; Physical and Rehabilitation Medicine ; Sensitivity and Specificity

Tracheoinnominate artery fistula is a rare, fatal complication of tracheostomy, and prompt diagnosis and management are imperative. We report the case of tracheoinnominate artery fistula after tracheostomy in a 14-year-old boy with a history of severe periventricular leukomalacia, hydrocephalus, cerebral palsy, and epilepsy. The tracheoinnominate artery fistula was successfully treated with a stent graft insertion via the right common femoral artery. Endovascular repair of the tracheoinnominate artery fistula via stent grafting is a safe, effective, and minimally invasive treatment for patients in poor clinical conditions and is an alternative to traditional open surgical treatment.
Adolescent* ; Angioplasty ; Arteries ; Blood Vessel Prosthesis ; Brachiocephalic Trunk ; Cerebral Palsy ; Diagnosis ; Epilepsy ; Femoral Artery ; Fistula* ; Humans ; Hydrocephalus ; Infant, Newborn ; Leukomalacia, Periventricular ; Male* ; Stents* ; Tracheostomy*

BACKGROUND AND PURPOSE: Various magnetic resonance (MR) measurements have been proposed to aid in differentiating between progressive supranuclear palsy (PSP) and idiopathic Parkinson's disease (IPD); however, these methods have not been compared directly. The aim of this study was to determine which measurement method exhibits the highest power to differentiate between PSP and IPD. METHODS: Brain MR images from 82 IPD and 29 PSP patients were analyzed retrospectively. T1-weighted 3D volumetric axial images, or sagittal images reconstructed from those axial images were examined. MR measurements included the length from the interpeduncular fossa to the center of the cerebral aqueduct at the mid-mammillary-body level, adjusted according to the anterior commissure-posterior commissure length (MB(Tegm)), the ratio of the midbrain area to the pons area (M/P ratio) as measured by both Oba's method (Oba M/P) and Cosottini's method (Cosottini M/P), and a modified MR parkinsonism index (mMRPI). RESULTS: Receiver operating characteristic (ROC) analysis indicated that the areas under the ROC curves (AUCs) exceeded 0.70, with a high intrarater reliability for all MR measurement methods. ROC analyses of four MR measurements yielded AUCs of 0.69-0.76. At the cutoff value with the highest Youden index, mMRPI had the highest sensitivity, while Oba M/P offered the highest specificity. A comparison of the ROC analyses revealed that MB(Tegm) was superior to mMRPI in differentiating PSP from IPD (p=0.049). There was no difference in discriminating power among Oba M/P, Cosottini M/P, and MB(Tegm). CONCLUSIONS: Simple measurements of MB(Tegm) on axial MR images at the mid-mammillary-body level are comparable to measurements of the M/P ratio with regard to their ability to discriminate PSP from IPD.
Area Under Curve ; Brain ; Cerebral Aqueduct ; Diagnosis, Differential* ; Humans ; Magnetic Resonance Imaging ; Mesencephalon* ; Neuroimaging ; Parkinson Disease* ; Parkinsonian Disorders ; Pons ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity ; Supranuclear Palsy, Progressive*