Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi‐detector row computed tomography

Costello syndrome is a rare multiple congenital anomaly syndrome caused by heterozygous germline HRAS mutations, which is characterized by intellectual disability, growth retardation, distinctive facies, loose skin, cardiomyopathy and a preposition to malignancies. Although teeth abnormalities have been encountered in nearly two‐thirds of the patients in literature, the evaluation tended to be limited to the extent which can be obtained from physical examination. We investigated detailed craniofacial, oral and dental findings in four patients with Costello syndrome. In this study, images reconstructed by multi‐detector row computed tomography (MDCT) were used as substitutes for dental cast study and panoramic and lateral cephalometric radiograph studies to evaluate dental arches, tooth size, relationships between craniofacial and dental structures, and hypodontia. All four patients showed true/relative macrocephaly with facial bone hypoplasia and gingival hypertrophy. Occlusal attrition, malocclusion, small dental arches, microdontia, and convex face were noted in three patients. In addition, one patient showed dental caries, conic tooth and gingivitis, and another patient showed hypodontia. Our study suggests that craniofacial and dental abnormalities are common in Costello syndrome patients and comprehensive dental care should be provided from early infancy. To our knowledge, this is the first study of thorough craniofacial and dental evaluation by using MDCT in Costello syndrome. MDCT is a useful tool for precise evaluation of craniofacial and oral manifestations in patients with congenital anomaly/intellectual disability syndromes.     

Effects of therapy on dentofacial development in long-term survivors of head and neck rhabdomyosarcoma: the memorial sloan-kettering cancer center experience

PURPOSE: To describe potential effects of multimodality therapy on dental and facial development in long-term survivors of head and neck rhabdomyosarcoma. PATIENTS AND METHODS: The medical records of all patients aged 20 years or less presenting between 1985 and 1996 with a diagnosis of rhabdomyosarcoma and treated by protocol were reviewed. Head and neck rhabdomyosarcoma patients who were followed in the Dental Service and were alive and free of disease with at least a 5-year follow-up were included in the review. Ten patients satisfied the inclusion criteria and form the basis of this report. The median age at diagnosis of the 10 patients was 4.3 years (range 10 months to 19.5 years). All patients were treated with chemotherapy, two patients underwent surgery, and all but one patient received external beam radiation therapy. RESULTS: Clinical or radiographic dentofacial abnormalities were observed in 8 of the 10 (80%) patients. Abnormalities included enamel defects, bony hypoplasia/facial asymmetry, trismus, velopharyngeal incompetency, tooth/root agenesis, and disturbance in root development. Bony hypoplasia and disturbance in root formation were the most common findings. CONCLUSIONS: Multimodality therapy for head and neck rhabdomyosarcoma can result in dentofacial abnormalities that affect the patient's quality of life. The care of the long-term survivor requires a multidisciplinary approach, including early involvement of the dental team.     

Retrospective study of pediatric facial cellulitis of odontogenic origin

OBJECTIVES: The aims of this retrospective study were to investigate the clinical characteristics of pediatric facial cellulitis of odontogenic origin and to compare the clinical differences between upper and lower facial infections and between genders. METHODS: Fifty-six children (28 boys and 28 girls) diagnosed with facial cellulitis of odontogenic origin during the year 2003 were selected for study. The average age was 5.72 +/- 2.70 years. Clinical investigations included sex, location of cellulitis, peak occurrence month, symptoms of infection, preference of first visit, hospitalization status, timing of surgical or dental interventions, need for incision and drainage, source of infection, and management of the primary odontogenic origin. Children were divided into upper face and lower face groups depending on the location of the infection. The chi and Student t tests were computed to assess the differences in the various study variables between upper and lower face infections and gender. RESULTS: Upper and lower face infections were reported in 57.1 and 42.9% of children, respectively. The source of infection was mostly from the deciduous posterior teeth. The clinical symptoms included a frequent toothache before swelling, and less commonly fever and trismus. Hospitalization was needed in 53.6% of the patients, and the mean length of hospitalization was 5.03 +/- 3.80 days. Surgical intervention such as incision and drainage was needed in only 25% of the cases. The majority of the patients had either surgical or dental interventions after subsidence of the swelling. The peak occurrence month was February. The source of infection in the upper face infections was significantly different from that of lower face infections (P < 0.01). Other study variables were not statistically significant for upper and lower face infections (P > 0.05). CONCLUSIONS: The differences in upper and lower face infections and differences in gender were not clinically significant. Surgical or dental interventions can be delayed through the proper use of antibiotics. With correct diagnosis, antibiotic treatment and appropriate timing for surgical or dental interventions, rapid resolution of the infection is expected.     

Central nervous system involvement in cat scratch disease

Cat scratch disease is a cause of benign regional adenopathy which is rarely associated with CNS complications. Two children with cat scratch disease associated with alterations of mental status and convulsions are presented. One patient had a focal cerebral abnormality on neurologic examination, EEG, and computed axial tomography. The spectrum of CNS involvement is reviewed for this usually benign disease. Prognosis is generally excellent. The pathogenesis of the CNS complications has not been elucidated.     

Mild traumatic brain injury: improving quality of care in the paediatric emergency department setting

Aim: Traumatic brain injury (TBI) in childhood can impose a significant threat to life and longer‐term disability. This study investigated the extent to which the documentation of key indicators of healthcare quality in the emergency department (ED) setting was consistent with clinical guidelines for the management of children with mild TBI (MTBI). Methods: The clinical records of a random sample of 60 children (stratified by ethnicity and age group), who were seen and discharged from a large metropolitan paediatric hospital ED following a head injury, were systematically reviewed to examine the processes of care and follow‐up. Results: Based on the documentation in clinical records, processes designed to identify and manage potentially life‐threatening acute complications (e.g. computed tomography scanning to identify intracranial haemorrhage) were consistent with best practice standards. However gaps existed between current and best practice for some aspects of care that could minimise risks of longer‐term disability from MTBI. For example, relevant clinical criteria were well documented, but this information did not appear to be applied systematically to identify and to follow up children with definite or possible MTBI. Conclusion: The apparent absence of a systematic approach to the diagnosis and follow‐up of MTBI in children presenting to ED suggests a missed opportunity to minimise the risk of disability following these injuries. Greater attention to an integrated care pathway that improves the identification, documentation, and follow‐up of children with MTBI presenting to ED is required.     

Do Kawasaki disease patients without coronary artery abnormalities need a long-term follow-up? A myocardial single-photon emission computed tomography pilot study

Objective:   To determine the frequency and risk factors for long-term myocardial perfusion scintigraphy abnormalities in patients with Kawasaki disease (KD).
Methods:   A cohort of patients with KD at least 3 years after disease onset and with persistent coronary artery aneurysms (CAA) (group 1) or without CAA (group 2) underwent stress–rest myocardial single-photon emission computed tomography (SPECT). Clinical and laboratory parameters at disease onset were considered to assess their predictive value for the development of myocardial perfusion abnormalities.
Results:   Forty patients, 20 in group 1 and 20 in group 2, entered the study. The two groups turned out to be comparable for demographic, clinical and laboratory characteristics. Five patients (12.5%), two in group 1 and three in group 2, had abnormal myocardial perfusion assessed by SPECT. Neither the presence of CAA nor the overall cardiac involvement at the disease onset significantly increased the risk for these abnormalities.
Conclusion:   Cardiac SPECT abnormalities are not unusual in KD and can be found in patients with or without CAA. If confirmed in a larger cohort of patients, these preliminary data indicate that careful long-term cardiac follow-up should be considered, regardless of the presence of CAA.     

Central nervous system complications in childhood leukemia. Correlation between clinical and computed tomographic findings

We used cranial computed tomography (CT) to evaluate 51 leukemic patients with or without central nervous system (CNS) symptoms. Among 17 symptomatic patients, nine had gross abnormalities on CT scans; leukemic infiltrations, infections (CNS aspergillosis), hemorrhages, and therapy-related complications were all evident. One with a leukemic infiltration showed a periventricular low density on the CT scans. The differential diagnosis of CT findings and the correlation between clinical and CT findings is described. The significance of a low-density area observed in an asymptomatic patient on long-term intrathecal methotrexate therapy for CNS leukemia is also discussed.     

Significance of splenomegaly in childhood Hodgkin disease

OBJECTIVES: Spleen involvement in childhood Hodgkin disease (HD) has not been described extensively. The authors' purpose was to study the clinicoradiologic features and prognostic significance of splenomegaly and that of splenic involvement in childhood HD. METHODS: One hundred forty-one children presenting with HD between January 1991 and February 2001 and treated with chemotherapy alone (4 COPP/4 ABVD) were included in the study. Radiotherapy was given in four patients with residual mediastinal disease. Patients were staged clinically and assessed for splenic deposits by computed tomography, ultrasonography, or both. RESULTS: Splenic involvement was seen in 22 children (15.6%). On univariate analysis, spleen deposits were significantly correlated with constitutional symptoms (P = 0.02), splenomegaly on physical examination (P < 0.001), involvement of three or more lymph node areas (P = 0.006), involvement of subdiaphragmatic lymph nodes (P = 0.01), mediastinal involvement (P = 0.001), and bulky disease (P = 0.005). Multivariate analysis retained enlarged spleen, involvement of three or more lymph node areas, and bulky disease as significant risk factors for spleen involvement. Relapse occurred significantly more in children with splenic involvement (P = 0.04) and in those with splenomegaly (P = 0.04). Presence of splenic deposits was an adverse prognostic factor for 5-year event-free survival (67.5% vs. 93.0%, P = 0.01). CONCLUSIONS: Enlarged spleen, involvement of three or more lymph node areas, and bulky disease are predictable risk factors for HD splenic deposits. Splenic involvement on computed tomography scan or ultrasonography is significantly associated with relapse and contributes to a poorer outcome of HD in children treated with chemotherapy alone.     

Treatment results of 84 patients with nasopharyngeal carcinoma in childhood

BACKGROUND: To evaluate the clinical characteristics, treatment regimens, survival, and late complications in patients with nasopharyngeal carcinoma. PROCEDURE: Eighty-four patients diagnosed with nasopharyngeal carcinoma between 1972 and 2002 were retrospectively evaluated. Tumor status, lymph node involvement, metastasis, and stage were assessed according to the TNM classification. All patients were treated with radiotherapy and chemotherapy. Chemotherapeutic regimens involved cyclophosphamide from 1972 to 1982, vincristine + cyclophosphamide + epirubicine and actinomycin-D protocol from 1982 to 1999 and cisplatin + methotrexate + 5-fluorouracil with leucovorine rescue after 1999. Mean and median values were used for the demographic characteristics. Kaplan-Meier survival curves were used for survival analysis. The patient groups were compared in terms of survival duration using a log-rank test. RESULTS: There were 51 males and 33 females with a median age of 13 years (7-17) at diagnosis. At the time of diagnosis, 78.5% of the patients were at advanced stage (stages III and IV). Overall and event-free survival rates were 56.3% and 50.1%, respectively. Survival was inversely affected by advanced nodal status (P = 0.01). The survival rates (80%) were found higher with cisplatin + methotrexate + 5-fluorouracil + leucovorine rescue regimen. The most frequent late complications after therapy were hypothyroidism (9.5%), dental caries (7.1%), and trismus (7.1%). CONCLUSION: The cisplatin-based regimen was the best chemotherapeutic regimen. Less toxic regimens with better survival rates should be investigated in patients with nasopharyngeal carcinoma.     

Scrotal involvement in childhood Henoch-Schönlein purpura

Aim: Henoch‐Schönlein purpura (HSP) is a common childhood systemic vasculitis involving the skin, gastrointestinal tract, joint, kidneys and even scrotum. Methods: We retrospectively reviewed the clinical and laboratory data of 120 male patients with HSP and also evaluated the risk factors for scrotal involvement and the relation between scrotal involvement and other clinical features. Twenty‐six out of 120 boys (21.7%) diagnosed with HSP had scrotal involvement. Results: Scrotal symptoms manifested as swelling in 88.5% and pain (or tenderness) in 69.2% of HSP patients with scrotal involvement. Neurologic symptoms, mainly headache and localized edema among various manifestations and high serum C3 level of laboratory profiles were more frequently observed in scrotal‐involved group than in those of non‐involved group. However, there was no difference in the outcomes of scrotal symptoms according to therapeutic modalities and the occurrence of scrotal involvement had no correlation with renal involvement from acute to chronic phase. Conclusions: We found that neurologic symptoms, localized edema and high serum C3 level show a significant relation with scrotal involvement in male HSP patients. Because scrotal involvement in male HSP patients is not rare, the accurate early diagnosis of HSP is mandatory by the early notification of purpura and imaging evaluations in order to avoid unnecessary procedures.     

Characteristics of pediatric-onset spinal cord injury

Background:  Although children rarely experience spinal cord injuries (SCI), those who do are subject to various lifelong disabilities and morbidities. The aim of the present study was to retrospectively assess the characteristics of pediatric onset SCI patients and their differences among age groups.
Methods:  Clinical characteristics were compared in 48 patients who experienced SCI during childhood and adolescence and who underwent rehabilitation treatment. Clinical characteristics were compared in patients under 4 years old (group A), 4–12 years old (group B), and 13–18 years old (group C) at SCI onset. Radiological findings were compared in 20 patients who were examined on both plain radiograph and computed tomography.
Results:  The overall male : female ratio was 3:2, with SCI due to non-traumatic causes more frequent overall. Of traumatic causes of SCI, vehicle accident was the most frequent. Of non-traumatic causes, congenital anomaly was most frequent in group A, but tumors became dominant as age increased. Overall, thoracic cord level of injury was most frequent. SCI without radiologic abnormalities (SCIWORA) was predominant in group A, but none was observed in group C. Spinal fractures with or without subluxation accounted for >60% of group C SCI.
Conclusions:  Non-traumatic, thoracic cord injury was frequent in the pediatric SCI population. SCIWORA was predominant in younger children.     

Enlargement of subarachnoid spaces and lateral ventricles in pediatric patients undergoing chemotherapy.

This retrospective study investigated the possible adverse effects of cancer therapy on the brain. Cranial computed tomographic scans of 76 patients with non-central nervous system malignancies and 25 patients with leukemia had enlarged lateral ventricles and/or cortical sulci in 19% and 40%, respectively. Leukemic patients, especially those with meningeal involvement, had the most frequent and most severe abnormalities.     

Sacrococcygeal teratoma: the 13-year experience of a tertiary paediatric centre

Aim: To describe the management, morbidity and mortality of infants admitted to a tertiary paediatric hospital in New South Wales, Australia with a diagnosis of sacrococcygeal teratoma (SCT). Methods: All neonates admitted to the neonatal intensive care unit with a SCT between January 1996 and December 2008 were included in this retrospective review. Data collected included maternal and neonatal demographics, time of diagnosis, tumour characteristics, surgical treatment, operative complications and outcomes. Results: Seventeen infants with a diagnosis of SCT were included in the study. Of these infants, the majority (70%) were born at term, and eight had a prenatal diagnosis made during the second trimester. Associated anomalies were detected in seven infants (41.8%), with renal anomalies being the most common. Tumour histology included mature (50%, n= 8), yolk sac tumour (18.75%, n= 3), immature (6.25%, n= 1) and mature with mixed elements (25%, n= 4). Recurrent disease occurred in two infants within 4–18 months of the primary resection, with one infant suffering a second recurrence. Only one child died prior to surgery, giving a survival rate of 94%, and mean age at follow‐up was 32 months. Long‐term sequelae found in four babies included revision of scar, vesicoureteric reflux, post‐surgical neurogenic bladder and osteotomy for hip dysplasia. Conclusions: The overall survival of neonatal SCT is high. While this is a small series, our results are consistent with the literature. Important components of management include timely diagnosis, multidisciplinary planning, long‐term follow‐up and intervention for functional sequelae.     

Reliability of splenic index to assess splenic involvement in pediatric Hodgkin's disease

The purpose of this study was to determine the reliability of the splenic index (SI) in children with Hodgkin's disease (HD). Seventeen patients who underwent staging laparotomy for HD were included in this study. Pretreatment computed tomography scans of these patients were reviewed retrospectively to determine the SI. The specificity, sensitivity, positive and negative predictive values, and accuracy of the SI were calculated. The sensitivity and specificity of the SI were 50% and 66%, respectively. The SI alone accurately identified or ruled out involvement with HD in 10 of 17 patients. Positive and negative predictive values of the SI were 57% and 60%, respectively. Even with the use of the SI, computed tomography alone remains unreliable to determine splenic involvement in children with HD. Additional imaging studies, especially fluorodeoxyglucose positron emission tomography, may improve the clinical staging of HD.     

Five-year follow-up of neonates with reconstructed right common carotid arteries after extracorporeal membrane oxygenation

OBJECTIVE: Serial Doppler ultrasonography and long-term neurodevelopmental follow-up outcomes were evaluated prospectively in neonates whose right common carotid artery (RCCA) was reconstructed after extracorporeal membrane oxygenation (ECMO). METHODS: Children with RCCA reconstruction (n = 34) were monitored for 3.5 to 4.5 years by Doppler ultrasonography for arterial patency, and 28 had IQ testing by 5 years. A comparison group consisted of 35 infants who had RCCA ligation after ECMO. Neonatal electroencephalograms and computed tomography/magnetic resonance imaging scans were also compared. RESULTS: Reconstructions were successful (<50% RCCA stenosis by Doppler ultrasonography) in 26 (76%) of 34 children, 3 (9%) had >/=50% stenosis, and 5 (15%) had occlusion. No significant differences were seen between reconstructed and ligated groups in neonatal complications or ECMO courses. Occurrence of marked neonatal electroencephalographic abnormalities did not differ between groups. Abnormalities on computed tomography/magnetic resonance imaging scans (4 of 31 vs 11 of 29, P =.025) and cerebral palsy (0 of 34 vs 5 of 35, P =.054) were more common in infants with RCCA ligation. No differences were seen in developmental or IQ scores between the 2 groups, and 4 in each group had cognitive handicaps (at least 1 IQ score <70). CONCLUSIONS: Most RCCA reconstructions remained patent, with 24% showing significant stenosis or occlusion. Compared with a historical control group, patients with RCCA reconstruction had fewer brain scan abnormalities and tended to be less likely to have cerebral palsy. RCCA reconstruction after venoarterial ECMO may improve outcome.     

The use of repeated head computed tomography in pediatric blunt head trauma: factors predicting new and worsening brain injury.

OBJECTIVE: Opinion is divided on the value of repeat head computed tomography for guiding clinical management of pediatric patients with blunt head trauma. This study describes the prevalence of worsening brain injury on repeat computed tomography, predictors of worsening computed tomography findings, and the frequency of neurosurgical intervention after the repeat computed tomography. DESIGN: Retrospective cohort study. SETTING: All patients were admitted to a level I pediatric trauma center between 1994 and 2003. PATIENTS: Children <15 yrs old with two or more head computed tomographies following hospital admission for blunt head trauma. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: We reviewed the imaging reports to determine injury progression. Potential predictors of worsening computed tomography findings and neurosurgical intervention were recorded by chart review. Logistic regression and recursive partitioning were used to identify predictors. Twenty percent (50 of 257) of patients with mild head injury had worsening computed tomography findings, and three patients (1%) had subsequent neurosurgical intervention. Patients with moderate and severe head injuries were more likely to have worsening computed tomography findings (107 of 248; 43%) and to have neurosurgical intervention (15 of 248; 6%). In most surgical patients, repeat computed tomography was preceded by rapid decline in neurologic status or elevated intracranial pressure. Stratification based on four clinical factors (initial head injury severity, any intraparenchymal finding on initial computed tomography, normal findings on initial computed tomography, coagulopathy) identified 100% of the surgical patients and 89% of patients with worsening brain injuries on the repeat computed tomography. CONCLUSIONS: Repeat head computed tomography imaging is frequently used. About 30% of repeated computed tomographies showed new or worsening brain injury. However, worsening brain injury on repeat computed tomography rarely resulted in neurosurgical intervention. Patients with moderate or severe head injury and intraparenchymal injuries were more likely to show worsening brain injury and undergo neurosurgical intervention.     

Isolated bifid rib: Clinical and radiological findings in children

Background: Bifid rib is usually asymptomatic but sometimes occurs associated with other pathological conditions. The aim of this study was to investigate clinical and radiological characteristics in children with bifid rib. Methods: Nine children with the diagnosis of bifid rib between 2005 and 2010 were reviewed. Chest radiography and computed tomography (CT) were performed in all patients, and 3‐D images were additionally reconstructed in six patients. Results: Five girls and four boys with a mean age at presentation of 4.2 years had various types of unilateral bifid rib. Seven patients complained of a chest wall mass, whereas two patients whose costal abnormalities were incidentally detected on chest radiography were asymptomatic. Bifid ribs were confirmed on plain radiographs in six patients, while the other three patients were finally diagnosed on reconstruction 3D‐CT. One patient with a flared rib on a radiograph showed bifurcation of the costal cartilage on 3D‐CT. The other two patients with upper rib abnormalities on radiography had downward extension of the cervical or first rib articulating with the upper branch of the bifid first or second rib, respectively. Conclusion: Reconstruction 3D‐CT can demonstrate complicated thoracic abnormalities in patients with atypical appearance of the rib on plain radiographs. An isolated bifid rib may require no further intervention.     

What is the True Frequency of Carditis in Acute Rheumatic Fever? A Prospective Clinical and Doppler Blind Study of 56 Children with up to 60 Months of Follow-Up Evaluation

BACKGROUND: This study aimed to evaluate prospectively clinical and echocardiographic findings of patients who had rheumatic fever with and without clinical features of cardiac involvement. METHODS: For this study, 56 consecutive patients (mean age, 11.4 years) with acute rheumatic fever diagnosed according to the 1992 modified Jones criteria were evaluated at diagnosis, after 3 and 6 months, then at 2 and 5 years. All assessments were performed blindly and included physical and cardiac examination, electrocardiogram, chest X-ray, and two-dimensional color-flow Doppler echocardiography. RESULTS: Initial clinical carditis was observed for 27 patients (48.2%), all of whom had positive echocardiographic abnormalities. Echocardiographic abnormalities were observed in 11 patients who had arthritis or chorea presentation without initial clinical carditis. Persistence of the abnormalities was observed at a late follow-up evaluation in 72.7% of the cases. Sydenham's chorea was present in 8 patients with clinical carditis and in 10 without this disorder, 8 of whom had echocardiographic abnormalities. CONCLUSION: Patients who had acute rheumatic fever without clinical signs of carditis showed acute and late follow-up echocardiographic abnormalities suggestive of cardiac involvement. Clinicians should be attentive for the presence of cardiac involvement among patients with chorea.