Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases / 中国当代儿科杂志

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-box-binding homeobox 2 (ZEB2) gene mutation and has various clinical manifestations including intellectual disability/global developmental delay, unusual facies and multiple congenital malformations. This article reports the clinical features and gene mutations of three children diagnosed with MWS by ZEB2 gene analysis. All three children had Hirschsprung disease and unusual facies. One child died of severe heart failure and pneumonia at the age of 4 months. Global developmental delay was not discovered by her parents due to her young age. The other two children had severe global developmental delay. All three children carried a de novo heterozygous nonsense mutation in the ZEB2 gene, among which c.756C>A (p.Y252X) had not been reported before. Such mutations produced truncated proteins and were highly pathogenic. MWS is presented with strong clinical and genetic heterogeneity. Clinicians should consider the possibility of MWS when a child has unusual facies of MWS, intellectual disability/global developmental delay and multiple congenital malformations. Gene detection helps to make a confirmed diagnosis.

Pulmonary surfactant protein gene mutation associated with pediatric interstitial lung disease: a case study and the review of related literature / 中华儿科杂志

<p><b>OBJECTIVE</b>To report a case of pulmonary surfactant protein (SP) gene mutation associated with pediatric interstitial lung disease, and study the clinical diagnosis process and review of related literature, to understand the relationship between interstitial lung disease and SP gene mutation in infants and children.</p><p><b>METHOD</b>The clinical, radiological, histological, and genetic testing information of a case of SP gene mutation related pediatric interstitial lung disease were analyzed and related literature was reviewed.</p><p><b>RESULT</b>A 2-year-old girl without a history of serious illness was hospitalized because of the shortness of breath, cough, excessive sputum, and the progressive dyspnea. Physical examination on admission revealed tachypnea, slight cyanosis, and the retraction signs were positive, respiratory rate of 60 times/minute, fine crackles could be heard through the lower lobe of both lungs; heart rate was 132 beats/minute. No other abnormalities were noted, no clubbing was found. Laboratory test results: pathologic examination was negative, multiple blood gas analysis suggested hypoxemia. Chest CT showed ground-glass like opacity, diffused patchy infiltration. Bronchoalveolar lavage fluid had a large number of neutrophils, and a few tissue cells. Eosinophil staining: negative. Fluconazole and methylprednisolone were given after admission, pulmonary symptoms and signs did not improve, reexamination showed no change in chest CT. Then lung biopsy was carried out through thoracoscopy. Histopathology suggested chronic interstitial pneumonia with fibrosis. The heterozygous mutation of R219W in the SFPTA1 and the S186N in SFTPC were identified by SP-related gene sequencing. The review of related literature showed that polymorphisms at the 219th amino acid in SP-A1 allele were found in adults with idiopathic pulmonary fibrosis (IPF), but there is no related literature in pediatric cases. The patient in this report had a mutation at the SP-A1 allele consistent with related literature. Data of 17 young children with mutation in SP-C gene showed that all the 17 cases had dyspnea and tachypnea, chest CT revealed diffuse opacities in lungs, the pathology of lungs was NSIP and CPI. There were 17 kinds of mutation and the common mutation was I73T. The mutation of S186N in SFTPC in our case has never been shown in previously published literature.</p><p><b>CONCLUSION</b>A case of interstitial lung disease with S186N gene mutation in SFTPC was preliminarily diagnosed in an infant. The SP-C gene mutations and polymorphisms are associated with pediatric interstitial lung disease.</p>

Chest CT features and outcome of necrotizing pneumonia caused by Mycoplasma pneumoniae in children (report of 30 cases) / 中华儿科杂志

<p><b>OBJECTIVE</b>To summarize the chest CT features and outcome of necrotizing pneumonia (NP) caused by Mycoplasma pneumoniae in children and to review the changes of common inflammatory parameters in NP patients to help clinicians understand the proper timing of CT scan.</p><p><b>METHOD</b>The imaging data from 30 cases of Mycoplasma pneumoniae pneumonia in NP group and 24 cases with non-necrotizing Mycoplasma penumoniae pneumonia (control group) were analyzed retrospectively. The changes of common inflammatory parameters in NP group and control group were compared.</p><p><b>RESULT</b>(1) The chest CT findings of NP (30 cases): 28 cases showed unilateral pneumonia, and 20 cases showed single lobar consolidation, 10 cases had multiple lobes involvement; pulmonary cavities were seen in 27 cases. There were decreased enhancement areas in the consolidation (22 cases). (2) The dynamic changes of CT signs during follow-up: The CT scan performed during the 1 - 2 months after onset of disease (23 cases) showed that pulmonary consolidation in 2 cases (9%) were absorbed, 18 cases (78%)had cavities in lung, 16 cases (70%) had pleural thickening, 2 cases (9%) atelectasis and 1 case (4%) bronchopleural fistula;the CT scan performed during the 2 - 3 months after onset of disease (11 cases) showed pulmonary consolidation in 7 cases (64%) were absorbed, 10 cases (91%) pleural thickness, 7 cases (64%) with cavities in lung, 5 cases (45%) atelectasis, 2 cases (18%) pulmonary lobe cysts and 1 case bronchopleural fistula. The CT scan performed at 3.5 years of disease course (10 cases) showed that there were no pulmonary consolidation in any of the cases, 4 cases had atelectasis, 4 cases had pulmonary cysts, and 1 case had band-like scars. (3) There were significant differences between NP group and control group in the maximum peripheral blood WBC, proportion of neutrophil and C-reactive protein(CRP, mg/L) (P < 0.01, 0.01, 0.001, respectively), and there was significant difference between the 2 groups in the duration of fever, abnormal WBC(d) and CRP(d) (P < 0.001).</p><p><b>CONCLUSION</b>The chest CT features of NP caused by Mycoplasma pneumoniae in children were single lobular consolidation in most cases, NP had decreased parenchymal enhancement and cavity in the consolidation, and recovery was slow, the outcome included recovery, atelectasis or lobar cystic degeneration. The clinicians should pay more attention to the common inflammatory parameters when they suspect the Mycoplasma pneumoniae pneumonia is progressing into necrosis and make correct decision for chest CT examination.</p>

Clinical features, mutation of the GNAS1 and pathogenesis of progressive osseous heteroplasia / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical features, mutation of the GNAS1 and pathogenesis of progressive osseous heteroplasia (POH).</p><p><b>METHOD</b>The typical clinical, pathological and radiographic features of a boy with POH were collected and summarized following family survey. The GNAS1 gene sequence of all family members were amplified by polymerase chain reaction (PCR) and the products were sequenced directly to identify the mutations. A literature review and long-term follow up were also conducted.</p><p><b>RESULT</b>The patient was an 11-year-old boy who had the onset in infancy, which indicates a chronic progressive cause of disease. The clinical features include the unsmooth local skin of the right shank where spread many rigid rice-like or irregular slabby uplifts, slabby bone-like sclerosis on the left lower mandible, left masticatory muscles, in lateral subcutaneous site of left hip joint and deep tissue, accompanied by gradually progressive difficulty in opening mouth. Histopathology showed that there were loosened hyperplasia of fibroblast and interstitial edema with punctiformed ossification. Radiographs showed flocculence hyperdense image in the subcutaneous tissues and muscles around left lower mandible, and the left masticatory muscles were obviously involved. The 3-dimensional computed tomography showed dislocations of the left temporomandibular joint. Sheeted hyperdense image with inequable density could be noted in lateral muscles of the left hip. And lamellar hyperdense image parallel to the long axis of the bone could be seen in the subcutaneous dorsum of the left foot and achilles tendon. Macro-thumb and of brachydactylia of the hands and feet were not present. The level of calcium, phosphorus and alkaline phosphatase in the blood were normal. Brother of same father but different mothers was free of the disease and no patient of the same disease was found in maternal line and paternal lines. A mutated allele in exon 7 and a polymorphism in exon 5 were found in GNAS1 gene in both of the patient and his father.</p><p><b>CONCLUSION</b>There is possibility/likelihood/probability that Chinese children could develop POH. Translocated dermal ossification began in infancy and shows a progressive cause in childhood. The disease is characterized by the heterotopic ossification of the skin, deep tissue, muscles and facial surface tissues. The location of the mutation in this study was different from that reported in abroad studies although exist in the same exons.</p>

Preliminary study on normal aerification of paranasal sinuses in children / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore the normal aerification of paranasal sinuses in Chinese children with magnetic resonance imaging.</p><p><b>METHODS</b>Two hundred and eighty Chinese children aged from 17 days to 14 years without any symptoms related to sinusitis were statistically analyzed in MRI features, including counting the number of paranasal sinus pneumatization and the maximum axial and sagittal area of the left maxillary.</p><p><b>RESULTS</b>The pneumatization rate of maxillary sinus was 85% in children aged from 0 to 1 years. Until 3 years the pneumatization rate of maxillary sinus was 95% and there was no significant difference in boys and girls (χ(2) = 0.741, P = 0.389). The pneumatization rate of maxillary sinus reached 100% after 4 years old. The pneumatization rate of ethmoid sinus was 100% in this study. The pneumatization rate of sphenoid sinus was 0 within 1 year old, 49% within 4 years old and 100% after 7 years old. There was no significant difference in boys and girls on the pneumatization rate of sphenoid sinus (χ(2) = 2.452, P = 0.117). The pneumatization rate of frontal sinus was 0 within 5 years old, 62% within 9 years old and 95% after 10 years old. There was no significant difference in boys and girls on the pneumatization rate of frontal sinus (χ(2) = 0.124, P = 0.724). The axial and sagittal maximum area of maxillary sinus was (689.28 ± 221.79) and (659.76 ± 263.31) mm(2) in girls and (668.13 ± 206.38) and (638.60 ± 207.67) mm(2) in boys. The differences were significant (t = -19.78, P < 0.001; t = -19.89, P < 0.001).</p><p><b>CONCLUSION</b>The study of the development and normal aerification of paranasal sinuses of children can help radiologist make correct diagnosis of paranasal sinuses in children.</p>

Chest radiographic findings in children with 2009 influenza A (H1N1) virus infection / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate chest radiographic findings of children with 2009 influenza (H1N1) virus infection.</p><p><b>METHOD</b>Data of 235 patients who had microbiologically confirmed H1N1 infection and available chest radiograph obtained between May 1(st) 2009 and Jan. 31(st) 2010 were retrospectively analyzed. The final study group was divided on the basis of clinical course [group 1 mild, outpatients without hospitalization (n = 172); group 2 moderate, inpatients with brief hospitalization (n = 49); group 3 severe, ICU admission (n = 14)]. Four pediatric radiologists reviewed all the chest radiographs of lung parenchyma, airway, pleural abnormalities and also anatomic distribution of the disease.</p><p><b>RESULT</b>No significant sex or age differences were found among the study groups (P > 0.05). The mean interval between the onset of clinical symptom and the initial chest radiography was (5.91 ± 1.64) days (group 1), (3.60 ± 1.43) days (group 2) and (1.21 ± 0.41) days (group 3), respectively. The differences among the three groups were significant statistically (χ(2) = 13.368, P < 0.01). The ratio of abnormality presented at initial chest X-ray was 79.7% in group 1, 91.8% in group 2 and 100% in group 3. Radiographically, there were prominent peribronchial markings (group 1, 55.2%; group 2, 83.7%; and group 3, 78.6%), consolidation (group 1, 34.3%; group 2, 69.4%; and group 3, 100.0%), hyperinflation (group 1, 22.1%; group 2, 44.9%; and group 3, 50.0%) and ground glass opacity (group 1, 0.6%; group 2, 2.0%; and group 3, 14.3%) in the chest radiographs. The differences of presenting were statistically significant (P < 0.01). In the severe group, the lesions distributed diffusely and asymmetrically with multi-lobe involvements.</p><p><b>CONCLUSION</b>In children with 2009 influenza A H1N1 viral infection, the interval between the onset of clinical symptom and initial chest radiography, the ratio of abnormality presented at initial chest X-ray film and the severity of chest film are parallel to their clinical situation.</p>

Evaluation of the clinical and imaging examination in high-risk children with vesicoureteral reflux / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical data and result of voiding cystourethrography (VCUG) in high-risk children with vesicoureteral reflux (VUR) for better awareness of VUR, and to assess the usefulness of non-radioactive voiding ultrasonography (VUS) in the diagnosis of VUR.</p><p><b>METHOD</b>Ninety-three high-risk children with VUR who were hospitalized from July 2007 to April 2010 were studied. The study included 58 cases of urinary tract infection (UTI) and 35 cases of fetal or postnatal hydronephrosis detected on a B ultrasound scan. The results of urinalysis, urine culture, renal function, B ultrasound and VCUG were evaluated. Part of patients underwent VUS followed by VCUG immediately.</p><p><b>RESULT</b>(1) Sixty-two boys and 31 girls (aged 1 month to 11.5 years, mean age 2 years) were included. VUR was detected in 26 patients (28%) by VCUG. In terms of kidney-ureter units, VUR was detected in 36 of 186 kidney-ureter units, including 6 grade I, 3 grade II, 6 grade III, 15 grade IV and 6 grade V. (2) VUR was detected in 20 of 58 UTI patients (34.5%) by VCUG. The proportion of VUR in recurrent UTI group was 61.1%, much higher than that in first UTI group (22.5%). Thirteen of 20 VUR (65%) occurred in UTI patients under 1 year of age (M/F 10/3), with more bilateral VUR and severe grades of VUR than the older group. VUR was detected in 6 of 35 fetal or postnatal hydronephrosis patients (17.1%) by VCUG. (3) Twenty-two patients underwent both VUS and VCUG. VUR was detected in 4 patients and 6 kidney-ureter units by VCUG, while in 6 patients and 9 kidney-ureter units by VUS. Taking VCUG as the reference standard, VUS had a sensitivity of 100%, specificity of 92.1%, positive predictive value of 66.7%, and negative predictive value of 100%. There was a concordance rate of 93.2% between VUS and VCUG.</p><p><b>CONCLUSION</b>It is important to early screen VUR in UTI, fetal or postnatal hydronephrosis patients. There are more VUR, especially more bilateral VUR and severe grades of VUR, occurred in UTI patients under 1 year of age compared to older children. The incidence of VUR in recurrent UTI group was much higher than that in first UTI group. VUS is an accurate, reliable and radiation-free technique for the detection of VUR. It could be used to screen high-risk children for VUR and do the evaluation in the follow-up of VUR.</p>