scholarly journals Diagnostic Approach to Macrocephaly in Children

2022 ◽  
Vol 9 ◽  
Author(s):  
Andrea Accogli ◽  
Ana Filipa Geraldo ◽  
Gianluca Piccolo ◽  
Antonella Riva ◽  
Marcello Scala ◽  
...  

Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD—“clinically relevant” megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.

1966 ◽  
Vol 53 (2) ◽  
pp. 177-188 ◽  
Author(s):  
P. Lund-Johansen ◽  
T. Thorsen ◽  
K. F. Støa

ABSTRACT A comparison has been made between (A), a relatively simple method for the measurement of aldosterone secretion rate, based on paper chromatography and direct densitometry of the aldosterone spot and (B) a more elaborate isotope derivative method. The mean secretion rate in 9 normal subjects was 112 ± 26 μg per 24 hours (method A) and 135 ± 35 μg per 24 hours (method B). The »secretion rate« in one adrenalectomized subject after the intravenous injection of 250 μg of aldosterone was 230 μg per 24 hours (method A) and 294 μg per 24 hours (method B). There was no significant difference in the mean values, and correlation between the two methods was good (r = 0.80). It is concluded that the densitometric method is suitable for clinical purposes as well as research, being more rapid and less expensive than the isotope derivative method. Method A also measures the urinary excretion of the aldosterone 3-oxo-conjugate, which is of interest in many pathological conditions. The densitometric method is obviously the less sensitive and a prerequisite for its use is an aldosterone secretion of 20—30 μg per 24 hours. Lower values are, however, rare in adults.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1961.1-1961
Author(s):  
J. Knitza ◽  
J. Mohn ◽  
C. Bergmann ◽  
E. Kampylafka ◽  
M. Hagen ◽  
...  

Background:Symptom checkers (SC) promise to reduce diagnostic delay, misdiagnosis and effectively guide patients through healthcare systems. They are increasingly used, however little evidence exists about their real-life effectiveness.Objectives:The aim of this study was to evaluate the diagnostic accuracy, usage time, usability and perceived usefulness of two promising SC, ADA (www.ada.com) and Rheport (www.rheport.de). Furthermore, symptom duration and previous symptom checking was recorded.Methods:Cross-sectional interim clinical data from the first of three recruiting centers from the prospective, real-world, multicenter bETTeR-study (DKRS DRKS00017642) was used. Patients newly presenting to a secondary rheumatology outpatient clinic between September and December 2019 completed the ADA and Rheport SC. The time and answers were recorded and compared to the patient’s actual diagnosis. ADA provides up to 5 disease suggestions, Rheport calculates a risk score for rheumatic musculoskeletal diseases (RMDs) (≥1=RMD). For both SC the sensitivity, specificity was calculated regarding RMDs. Furthermore, patients completed a survey evaluating the SC usability using the system usability scale (SUS), perceived usefulness, previous symptom checking and symptom duration.Results:Of the 129 consecutive patients approached, 97 agreed to participate. 38% (37/97) of the presenting patients presented with an RMD (Figure 1). Mean symptom duration was 146 weeks and a mean number of 10 physician contacts occurred previously, to evaluate current symptoms. 56% (54/96) had previously checked their symptoms on the internet using search engines, spending a mean of 6 hours. Rheport showed a sensitivity of 49% (18/37) and specificity of 58% (35/60) concerning RMDs. ADA’s top 1 and top 5 disease suggestions concerning RMD showed a sensitivity of 43% (16/37) and 54% (20/37) and a specificity of 58% (35/60) and 52% (31/60), respectively. ADA listed the correct diagnosis of the patients with RMDs first or within the first 5 disease suggestions in 19% (7/37) and 30% (11/37), respectively. The average perceived usefulness for checking symptoms using ADA, internet search engines and Rheport was 3.0, 3.5 and 3.1 on a visual analog scale from 1-5 (5=very useful). 61% (59/96) and 64% (61/96) would recommend using ADA and Rheport, respectively. The mean SUS score of ADA and Rheport was 72/100 and 73/100. The mean usage time for ADA and Rheport was 8 and 9 minutes, respectively.Conclusion:This is the first prospective, real-world, multicenter study evaluating the diagnostic accuracy and other features of two currently used SC in rheumatology. These interim results suggest that diagnostic accuracy is limited, however SC are well accepted among patients and in some cases, correct diagnosis can be provided out of the pocket within few minutes, saving valuable time.Figure:Acknowledgments:This study was supported by an unrestricted research grant from Novartis.Disclosure of Interests:Johannes Knitza Grant/research support from: Research Grant: Novartis, Jacob Mohn: None declared, Christina Bergmann: None declared, Eleni Kampylafka Speakers bureau: Novartis, BMS, Janssen, Melanie Hagen: None declared, Daniela Bohr: None declared, Elizabeth Araujo Speakers bureau: Novartis, Lilly, Abbott, Matthias Englbrecht Grant/research support from: Roche Pharma, Chugai Pharma Europe, Consultant of: AbbVie, Roche Pharma, RheumaDatenRhePort GbR, Speakers bureau: AbbVie, Celgene, Chugai Pharma Europe, Lilly, Mundipharma, Novartis, Pfizer, Roche Pharma, UCB, David Simon Grant/research support from: Else Kröner-Memorial Scholarship, Novartis, Consultant of: Novartis, Lilly, Arnd Kleyer Consultant of: Lilly, Gilead, Novartis,Abbvie, Speakers bureau: Novartis, Lilly, Timo Meinderink: None declared, Wolfgang Vorbrüggen: None declared, Cay-Benedict von der Decken: None declared, Stefan Kleinert Shareholder of: Morphosys, Grant/research support from: Novartis, Consultant of: Novartis, Speakers bureau: Abbvie, Novartis, Celgene, Roche, Chugai, Janssen, Andreas Ramming Grant/research support from: Pfizer, Novartis, Consultant of: Boehringer Ingelheim, Novartis, Gilead, Pfizer, Speakers bureau: Boehringer Ingelheim, Roche, Janssen, Jörg Distler Grant/research support from: Boehringer Ingelheim, Consultant of: Boehringer Ingelheim, Paid instructor for: Boehringer Ingelheim, Speakers bureau: Boehringer Ingelheim, Peter Bartz-Bazzanella: None declared, Georg Schett Speakers bureau: AbbVie, BMS, Celgene, Janssen, Eli Lilly, Novartis, Roche and UCB, Axel Hueber Grant/research support from: Novartis, Lilly, Pfizer, Consultant of: Abbvie, BMS, Celgene, Gilead, GSK, Lilly, Novartis, Speakers bureau: GSK, Lilly, Novartis, Martin Welcker Grant/research support from: Abbvie, Novartis, UCB, Hexal, BMS, Lilly, Roche, Celgene, Sanofi, Consultant of: Abbvie, Actelion, Aescu, Amgen, Celgene, Hexal, Janssen, Medac, Novartis, Pfizer, Sanofi, UCB, Speakers bureau: Abbvie, Aescu, Amgen, Biogen, Berlin Chemie, Celgene, GSK, Hexal, Mylan, Novartis, Pfizer, UCB


Author(s):  
Francesco Luceri ◽  
Davide Cucchi ◽  
Enrico Rosagrata ◽  
Carlo Eugenio Zaolino ◽  
Alessandra Menon ◽  
...  

Abstract Introduction The coronoid process plays a key-role in preserving elbow stability. Currently, there are no radiographic indexes conceived to assess the intrinsic elbow stability and the joint congruency. The aim of this study is to present new radiological parameters, which will help assess the intrinsic stability of the ulnohumeral joint and to define normal values of these indexes in a normal, healthy population. Methods Four independent observers (two orthopaedic surgeons and two radiologists) selected lateral view X-rays of subjects with no history of upper limb disease or surgery. The following radiographic indexes were defined: trochlear depth index (TDI); anterior coverage index (ACI); posterior coverage index (PCI); olecranon–coronoid angle (OCA); radiographic coverage angle (RCA). Inter-observer and intra-observer reproducibility were assessed for each index. Results 126 subjects were included. Standardized lateral elbow radiographs (62 left and 64 right elbows) were obtained and analysed. The mean TDI was 0.46 ± 0.06 (0.3–1.6), the mean ACI was 2.0 ± 0.2 (1.6–3.1) and the mean PCI was 1.3 ± 0.1 (1.0–1.9). The mean RCA was 179.6 ± 8.3° (normalized RCA: 49.9 ± 2.3%) and the mean OCA was 24.6 ± 3.7°. The indexes had a high-grade of inter-observer and intra-observer reliability for each of the four observers. Significantly higher values were found for males for TDI, ACI, PCI and RCA. Conclusion The novel radiological parameters described are simple, reliable and easily reproducible. These features make them a promising tool for radiographic evaluation both for orthopaedic surgeons and for radiologists in the emergency department setting or during outpatient services. Level of evidence Basic Science Study (Case Series). Clinical relevance The novel radiological parameters described are reliable, easily reproducible and become handy for orthopaedic surgeons as well as radiologists in daily clinical practice.


1979 ◽  
Author(s):  
F. Panicucci ◽  
A. Sacripanti ◽  
E. Pinori ◽  
M. Vispi ◽  
B. Conte ◽  
...  

Determinations of AT-III activity, heparin cofactor activity, antifactor Xa activity and AT-III protein were carried out in 200 healthy adults, evenly distributed within age and sex groups, in 60 patients with cerebral thrombosis and in 20 oral contraceptive users. There was a positive correlation between AT-III protein and its activitiesin normal subjects and in patients with cerebral thrombosis. In oral contraceptive users the positive correlation was between AT-III protein and its activities, antifactor Xa activity excepted. The mean AT-III protein and heparin cofactor activity values decreased in males with age and were significantly lower in the groups between 50 and 70 years. The mean AT-III protein and heparin cofactor activity values decreased slightly in women in fertile age and were lower in the 40 to 50 age-group. The mean AT-III protein and its activities values did not show any variation in the patients with cerebral thrombosis. The mean antifactor Xa activity value in the women, taking the pill for 3 months, decreased, whereas the other AT-III activities and AT-III protein were unchanged.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 765.2-765
Author(s):  
C. Guillén-Astete ◽  
P. Zurita-Prada ◽  
C. Urrego-Laurín

Background:Synovial inflammation is part of the pathophysiological process of PsoA although it is considered secondary to enthesitis. It is of interest to assess the synovial joint, peritendinous and enthesic response of patients with PsoA in remission under controlled mechanical stress.Objectives:Our aim is to present our observational experience in patients with APso in remission or low activity of the disease exposed to controlled manual physical efforts adapted to the own grasping capacity of each subject.Methods:Before-after study of a consecutive cohort of patients with PsoA (CASPAR criteria), of at least two years d evolution and DAPSA≤14 at present. Patients with positive rheumatoid factor, patients with exclusively axial forms and patients on biological therapy at the beginning of the study were excluded. All patients underwent controlled basal ultrasound and post-dynamometric exercise (CAMRY EH101-17) of the dominant hand which included the carpus, MCFs, IFPs and IFDs of the 2nd to 5th fingers. The ultrasound findings were scored according to EULAR recommendations in grey scale (GS) and power Doppler (PD) for synovitis, enthesitis and tenosynovitis (maximum scores 71 and 87, respectively). For statistical analysis, comparisons were made with the results of their baseline and post-exercise ultrasound scores between subjects diagnosed with PsoA and controls. The Student’s T test was used for related and unrelated data according to correspondence.Results:Nineteen patients and controls were included, of which 73.7% were male. Mean age: 42.2 SD 6.6 and 42.21 SD 8.28, respectively. Basal DAPSA among patients: 7.26 SD 4.53. Mean traction strength of patients and controls: 23.8 SD 7.3 and 26.1 SD 6.9 kg, respectively (P=0.336). In the group of patients, the post exercise DAPSA had a mean of 7.52 SD 4.62 (P=0.021, with respect to the basal DAPSA). The mean total GS score in the patient group was 3.94 SD 2.36 and 7.31 SD 3.3, pre- and post-exercise, respectively (P<0.001). The mean total score in the PD study was 0.73 SD 0.73 and 2.57 SD 1.16, respectively (P<0.001). In patients with PsoA there were no detectable enthesic changes. In the control group, no ultrasound changes were statistically significant, although the score for tenosynovitis ranged from 0.1 SD 0.31 to 0.42 SD 0.6 (P=0.055).Conclusion:Patients with APso in clinical remission or low disease activity develop ultrasound changes after controlled exercise. These changes are appreciable in the joint synovium and tendon but not at an enthesic level. Although these changes are also detectable in a healthy population, their prevalence is much lower. Our interpretation is that control of the disease correlates with an absence of enthesic inflammatory activity although synovial susceptibility remains less evident. This reinforces the idea that PsoA is an inflammatory enthesitis with associated arthritis and not its opposite.Disclosure of Interests:None declared


2021 ◽  
Vol 10 (12) ◽  
pp. 2637
Author(s):  
Mª. Ángeles del Buey-Sayas ◽  
Elena Lanchares-Sancho ◽  
Pilar Campins-Falcó ◽  
María Dolores Pinazo-Durán ◽  
Cristina Peris-Martínez

Purpose: To evaluate and compare corneal hysteresis (CH), corneal resistance factor (CRF), and central corneal thickness (CCT), measurements were taken between a healthy population (controls), patients diagnosed with glaucoma (DG), and glaucoma suspect patients due to ocular hypertension (OHT), family history of glaucoma (FHG), or glaucoma-like optic discs (GLD). Additionally, Goldmann-correlated intraocular pressure (IOPg) and corneal-compensated IOP (IOPcc) were compared between the different groups of patients. Methods: In this prospective analytical-observational study, a total of 1065 patients (one eye of each) were recruited to undergo Ocular Response Analyzer (ORA) testing, ultrasound pachymetry, and clinical examination. Corneal biomechanical parameters (CH, CRF), CCT, IOPg, and IOPcc were measured in the control group (n = 574) and the other groups: DG (n = 147), FHG (n = 78), GLD (n = 90), and OHT (n = 176). We performed a variance analysis (ANOVA) for all the dependent variables according to the different diagnostic categories with multiple comparisons to identify the differences between the diagnostic categories, deeming p < 0.05 as statistically significant. Results: The mean CH in the DG group (9.69 mmHg) was significantly lower compared to controls (10.75 mmHg; mean difference 1.05, p < 0.001), FHG (10.70 mmHg; mean difference 1.00, p < 0.05), GLD (10.63 mmHg; mean difference 0.93, p < 0.05) and OHT (10.54 mmHg; mean difference 0.84, p < 0.05). No glaucoma suspects (FHG, GLD, OHT groups) presented significant differences between themselves and the control group (p = 1.00). No statistically significant differences were found in the mean CRF between DG (11.18 mmHg) and the control group (10.75 mmHg; mean difference 0.42, p = 0.40). The FHG and OHT groups showed significantly higher mean CRF values (12.32 and 12.41 mmHg, respectively) than the DG group (11.18 mmHg), with mean differences of 1.13 (p < 0.05) and 1.22 (p < 0.001), respectively. No statistically significant differences were found in CCT in the analysis between DG (562 μ) and the other groups (control = 556 μ, FHG = 576 μ, GLD = 569 μ, OHT = 570 μ). The means of IOPg and IOPcc values were higher in the DG patient and suspect groups than in the control group, with statistically significant differences in all groups (p < 0.001). Conclusion: This study presents corneal biomechanical values (CH, CRF), CCT, IOPg, and IOPcc for diagnosed glaucoma patients, three suspected glaucoma groups, and a healthy population, using the ORA. Mean CH values were markedly lower in the DG group (diagnosed with glaucoma damage) compared to the other groups. No significant difference was found in CCT between the DG and control groups. Unexpectedly, CRF showed higher values in all groups than in the control group, but the difference was only statistically significant in the suspect groups (FHG, GLD, and OHT), not in the DG group.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Qurratulain Chundriger ◽  
Muhammad Usman Tariq ◽  
Jamshid Abdul-Ghafar ◽  
Arsalan Ahmed ◽  
Nasir Ud Din

Abstract Background Kaposiform Hemangioendothelioma (KHE) is a rare vascular tumor of intermediate malignant potential which shows locally aggressive growth but only rarely metastasizes. It is mostly considered to be a tumor of pediatric population but its occurrence in the adults is not uncommon as once considered. Histologically, KHE can mimic other soft tissue neoplasms of different behaviors (e.g. Kaposi Sarcoma, hemangioma) and establishing the correct diagnosis is important for appropriate treatment. Herein, we describe the clinicopathological features of 8 cases of KHE which will be helpful in making their diagnosis. Methods We reviewed pathology reports, microscopy glass slides and obtained follow up information about 8 cases of KHE which were diagnosed at our institution from January 2008 till June 2020. Immunohistochemical stain for HHV8 was also performed. Results Age ranged from 7 months to 25 years. Seven patients were less than 20 years of age and one patient was 25 years old. Equal gender distribution was observed. Extremities were the most common sites of involvement, followed by head and neck, pancreas and ischiorectal region. 2 cases were resection specimen and all others were incisional biopsies. The largest tumor size was 5.5 cm in one of the resections. The incisional/fragmented tissues were all less than 5 cm in aggregate. Most cases showed predominance of nodular growth and a minor component of spindle cell population along with lymphangiomatosis like vascular channels, with evidence of microthrombi in 2 cases. Few multinucleated giant cells were observed in 2 cases. None of the cases exhibited significant nuclear atypia or mitotic activity. One of the cases arising in dermis showed underlying bone involvement. HHV8 was negative in 7/7 cases. Conclusions KHE can also involve adult population and it should always be considered in the differential diagnoses of a vascular lesion. Presence of multinucleated giant cells is a rare finding. Knowledge about histological features and potential mimics is helpful in avoiding misdiagnosis.


Author(s):  
Stephen C. Dryden ◽  
Andrew G. Meador ◽  
Andrew B. Johnston ◽  
Adrianna E. Eder ◽  
James C. Fleming ◽  
...  

Abstract Objective Orbital roof fractures are more likely to occur in younger children, specifically younger than 7 years. Cranium to face ratio decreases with age; however, there is no definition for measurement of the neurocranium or face. We propose using the length of the orbital roof as a measurement of the neurocranium and length of the orbital floor as a tool to estimate midface size. The purpose of this study is to test this measurement as a correlation rate of orbital roof fractures within the pediatric population. Design This is a retrospective study. Setting This study was done at the LeBonheur Children's Hospital. Participants Sixty-six patients with orbital roof fractures were identified and stratified by gender and age, specifically younger than 7 years and 7 years or older. Main Outcome Measures The main outcome measures were orbital roof length, floor length, and ratio thereof. Results Mean orbital roof length was 43.4 ± 3.06 and 45.1 ± 3.94 mm for patients <7 and ≥7 years, respectively (p = 0.02). Mean orbital floor length was 41.3 ± 2.99 and 47.7 ± 4.19 for patients <7 and ≥7 years, respectively (p < 0.00001). The mean roof to floor ratio (RTFR) for patients <7 years was 1.051 ± 0.039 and for patients ≥ 7 years was 0.947 ± 0.031 (p < 0.00001). Conclusion As children age, the relative length of the orbital roof decreases when compared with the orbital floor. The RTFR was more than 1.0 in children younger than 7 years. These differences were statistically significant when compared with children 7 years and older. This measurement shift follows the differences noted in orbital fracture patterns during childhood.


2021 ◽  
pp. 112067212110206
Author(s):  
Iliya Simantov ◽  
Lior Or ◽  
Inbal Gazit ◽  
Biana Dubinsky-Pertzov ◽  
David Zadok ◽  
...  

Background: Retrospective cohort study evaluating long term keratoconus progression amongst cross-linking (CXL) treated pediatric patients in the treated and the fellow untreated eyes. Methods: Data on 60 eyes of 30 patients, 18 years old or younger, who underwent CXL in at least one eye was collected and analyzed. Follow-up measurements taken from the treated and untreated eye up to 7 years after CXL treatment, were compared to baseline measurements. Parameters included uncorrected distance visual acuity (UCDVA), best-corrected spectacle visual acuity (BCSVA), manifest refraction, pachymetry, corneal tomography, and topography. Results: Mean age of patients was 16 ± 2.1 years. For the treated eyes, during follow-up period mean UCDVA had improved (from 0.78 ± 0.22 at baseline to 0.58 ± 0.26 logMAR at 7 years; p = 0.13), as well as mean BCSVA (from 0.23 ± 0.107 at baseline to 0.172 ± 0.05 logMAR at 7 years; p = 0.37). The mean average keratometry showed a significant flattening (from 49.95 ± 4.04 to 47.94 ± 3.3 diopters (D); p < 0.001), However there was no change in the mean maximal keratometry. The mean minimal corneal thickness (MCT) showed a significant mild reduction of 26 µm ( p = 0.006). Although statistically insignificant, the mean manifest cylinder was also reduced to 2D ( p = 0.15). During the follow-up period, eight untreated eyes (26.6%) deteriorated and underwent CXL, while only one treated eye (3.33%) required an additional CXL. Conclusion: CXL is a safe and efficient procedure in halting keratoconus progression in the pediatric population, the fellow eye needs to be carefully monitored but only a 25% of the patients will require CXL in that eye during a period of 7 years.


2018 ◽  
Vol 8 (4) ◽  
Author(s):  
Viet Hoa Nguyen

Abstract Introduction: Evaluating the role of laparoscopic for diagnosis and treatment of undescended testis in children. Material and Methods: Restrospective study, between 6/ 2014 and 6/2017. All the patients are aged from 1 to 16 years with undescended testis underwent laparoscopic surgery for diagnosis and treatment in Deparment of pediatric surgery – Viet Duc hospital enrolled. Results: Of 95 patiens in total had 106 undescended testis diagnosed and treated by laparoscopy. The mean age of patients was 7,5 ± 3,8 years. 44,2% undescended were on the left side, 44,2% were on the right and 11,6% were undescended bilateral. The correct diagnosis by ultrasound accounted in 79,4%. The locations of testis diagnosed by laparoscopic are : intra abdomen in 45,3%, deep inguinal orifice in 16,9%, extra inguinal orifice in 26,4%, no testicle found in 11,4%. The mean time of operation were 67,33± 28,01 pht. Scrotal positions were achieved 74,5%, remove atrophic testis accounted in 7,6%. Stephen- Flowler technique including step I were in 4,7%, step II in 1,9%. The outcome evaluated by testicular positions following 3 months after operation are : good in 79,2%, moderate 13,2%, poor in 7,6%; By classification of Aubert are : good in 81,1%, moderate in 11,3% and poor in 7,6 %. Conclusion: Laparoscopic surgery is not only a highly sensitive diagnostic method to find accurately the location and size of the testes, but also the most effective method to treat impalpable undescended testes.


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