Necessity of Intracranial Imaging in Infants and Children With Macrocephaly

Sampson, Megan A.; Berg, Aaron; Huber, Jody N; Olgun, Gokhan

doi:10.1016/j.pediatrneurol.2018.10.018

Cited by 15 publications

(16 citation statements)

References 29 publications

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“…A population based study reported that BEH has an incidence of about 0.4 per 1000 live births (3). In a previous study 34% of children with macrocephaly had BEH (2). Similarly, we found as a rate of 44.66% BEH in our study.…”

Section: Discussionsupporting

confidence: 83%

“…Developmental delay was accepted as a potential risk factor in Sampson et al's study. They found 25 of 168 patients (14.88%) having delays and 5 had abnormal imaging and seven had BEH (2). In our study, patients with abnormal neuroimaging results had significantly higher rates of developmental delay or abnormal neurologic exam than patients with normal neuroimaging results or BEH (p=0.003 and p<0.0001).…”

Section: Discussionsupporting

confidence: 48%

“…Only, sixteen patients had confirmatory brain MRI or head CT modalities after HUS. Thus, HUS is considered as an appropriate screening tool to manage patients with an open fontanelle and macrocephaly and no neurological findings as in previous studies (2,5). BEH is the most common etiology of macrocephaly in infants and is more common in the male population (6,7).…”

Section: Discussionmentioning

confidence: 99%

“…The most common cause of infant with macrocephaly have either familial macrocephaly or benign external hydrocephalus (BEH). Conditions that causes macrocephaly are rarely require treatment (2). The main sign calling for urgent intervention is the degree of acceleration in head growth, a tense anterior fontanel, dilated scalp veins, irritability, gross motor delay, hypotonia, seizures (3).…”

Section: Introductionmentioning

confidence: 99%

“…If a patient undergone further investigation or surgical intervention due to the imaging result, it was classified as an abnormal finding with high clinical yield. An abnormal finding with low clinical yield was considered if the imaging was abnormal however did not necessitated surgical intervention or further investigation related to macrocephaly such as periventricular leukomalacia (2).…”

mentioning

confidence: 99%

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Makrosefalisi Olan Hastalarda Nörogörüntülemenin Tanısal Değeri

Öztürk¹,

Serin²

2020

Turkish Journal of Pediatric Disease

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Objective: The goal of this study was to determine the relative frequencies of benign external hydrocephalus (BEH), hydrocephalus and other conditions in a large series of imaging studies performed for macrocephaly and identify additional risk factors for patients with macrocephaly that would most likely benefit from neuroimaging evaluation. Material and Methods: Medical records at our center were searched for the term macrocephaly retrospectively. The search extended from 1th January 2014 to 1th June 2019. Patients older than 36 months of age were excluded. Information about age, gender, symptoms and clinical signs (seizures, neurologic abnormalities on exam such as hypotonia), neuroimaging findings, developmental delay, family history of macrocephaly and head circumference (HC) were collected for each patient. Results: A total of 103 patients were included in the analysis. The mean age at the time of imaging was 9 months (±5.5 months). Twenty-one (20.3%) of the subjects were female and 82 (79.6%) were male. Twenty-nine of the imaging studies were magnetic resonance imaging, 26 were computed tomography and 65 were head ultrasounds. Patients with abnormal neuroimaging results had significantly higher rates of developmental delay or abnormal neurologic exam than patients with normal neuroimaging results or BEH (p=0.003 and p<0.0001). There was no significant difference between the neuroimaging results of patients with and without positive family history of macrocephaly. Conclusion: This study suggests that neuroimaging for macrocephaly has almost negligible diagnostic yield unless having developmental delay or abnormal neurological examination.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionsupporting

confidence: 48%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Makrosefalisi Olan Hastalarda Nörogörüntülemenin Tanısal Değeri

Öztürk¹,

Serin²

2020

Turkish Journal of Pediatric Disease

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Dysmorphology: Syndromes

Theunis

Esch

2021

Encyclopedia of Life Sciences

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Dysmorphology is the study of human congenital malformations and combines concepts and knowledge of different medical fields, including embryology and clinical genetics. Syndromology specialises in the diagnosis of multiple congenital anomalies through the recognition of patterns of human malformations. This article provides a theoretical framework of dysmorphism and a clinical and molecular diagnostic approach to the child that presents with a congenital malformation. The assessment of a dysmorphic child must contain a detailed family, prenatal and birth history, an evaluation of the psychomotor development and a good clinical examination, including biometry, neurology and detailed description of minor and major anomalies. Dysmorphic syndromes often present variable phenotypes and may escape clinical diagnosis even when causative molecular defects are similar. Alternatively, locus heterogeneity or mutations in different genes can underlie similar phenotypes. Therefore, technical advances are shifting the field of dysmorphology from gestalt diagnoses to broad molecular diagnostics and reverse phenotyping. Key Concepts Dysmorphism refers to any observable structural abnormality of the body but colloquially is often used to indicate facial dysmorphism. The phenotype refers to the totality of the presentation including facial gestalt, congenital anomalies, psychomotor development and behavioural patterns. Pathognomonic features can be subtle but are very specific for one disorder and confirm a clinical diagnosis. Congenital anomalies are categorized into deformations, disruptions, dysplasias and malformations. Multiple congenital anomalies can be categorized as associations, syndromes or sequences. Continuous technical advances have greatly improved the diagnostic yield of molecular investigations in human malformations. Accurate diagnosis can reduce uncertainty, offer prognostic predictions, allow counselling of recurrence risk and earlier recognition of care needs through screening for additional comorbidities and better follow‐up, and guide therapeutic strategies.

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Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

Tolonen

Hekkala

Kuismin

et al. 2020

Molec Gen & Gen Med

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Background Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH, MBWNT, MBGroup 3, and MBGroup 4, representing the second most common type of pediatric brain cancer after high‐grade gliomas. They suffer from a high prevalence of genetic predisposition with up to 20% of MBSHH caused by germline mutations in only six genes. However, the spectrum of germline mutations in MBSHH remains incomplete. Methods Comprehensive Next‐Generation Sequencing panels of both tumor and patient blood samples were performed as molecular genetic characterization. The panels cover genes that are known to predispose to cancer. Results Here, we report on a patient with a pathogenic germline PTEN variant resulting in an early stop codon p.(Glu7Argfs*4) (ClinVar ID: 480383). The patient developed macrocephaly and MBSHH, but reached remission with current treatment protocols. Conclusions We propose that pathogenic PTEN variants may predispose to medulloblastoma, and show that remission was reached with current treatment protocols. The PTEN gene should be included in the genetic testing provided to patients who develop medulloblastoma at an early age. We recommend brain magnetic resonance imaging upon an unexpected acceleration of growth of head circumference for pediatric patients harboring pathogenic germline PTEN variants.

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Necessity of Intracranial Imaging in Infants and Children With Macrocephaly

Cited by 15 publications

References 29 publications

Makrosefalisi Olan Hastalarda Nörogörüntülemenin Tanısal Değeri

Makrosefalisi Olan Hastalarda Nörogörüntülemenin Tanısal Değeri

Dysmorphology: Syndromes

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

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