
Caroline D RobsonBoston Children's Hospital · Department of Radiology
Caroline D Robson
MBChB
About
163
Publications
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Introduction
My research focus includes the following:
1. Pediatric Head and Neck Imaging
2. Congenital cranial dysinnervation disorders
3. Imaging pediatric patients without sedation
Additional affiliations
July 1994 - present
Education
February 1979 - December 1984
Publications
Publications (163)
Purpose
To functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
Methods
Through exome and genome sequencing of a genetically unsolved human oCCDD cohort, we previously identified variants in 80 strong candidate genes. Here, we further prioritized a...
Purpose
Incomplete partition type II (IP-II) is characterized by specific histological features and radiological appearance. It may occur in isolation or in association with an enlarged vestibular aqueduct (EVA). Among those with IP-II and EVA, a subset has a diagnosis of Pendred syndrome. This study aimed to explore the prevalence of isolated IP-I...
Purpose:
To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
Methods:
We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo var...
Purpose
FEM1B acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CRL2 E3 family. Several biological functions have been proposed for FEM1B, including a structurally resolved function as a sensor for redox cell status by controlling mitochondrial activity, but its implication in human disease remains elusive.
Me...
Sinonasal myxoma (SNM) is a rare, benign mesenchymal neoplasm with distinct clinicopathologic features and aberrant nuclear localization of β-catenin by immunohistochemistry. The molecular underpinnings have been linked to that of a "myxoid variant" of desmoid fibromatosis. Herein, we describe a series of 8 cases of SNM and propose clinical and bio...
Study design:
A retrospective chart review.
Objective:
The aims of this study were to review pathophysiology, workup, and treatment for Hirayama disease (HD); and to assess outcomes from a single institution.
Summary of background data:
HD is a rare, painless, cervical myelopathy with distal upper extremity weakness, muscle wasting, and spinal...
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific...
Objective:
Mandibular tumors in the pediatric population are rare. These malignancies are variable in their histology, and combined with their rarity, has made it difficult to describe their clinical course, and treatment guidelines. The aim of this paper is to describe the experience of Boston Children's Hospital, a pediatric tertiary referral ce...
The complex anatomy and broad array of potential congenital abnormalities can make developmental anomalies of the midface an intimidating subject. However, a basic understanding of facial development and a location-based approach to evaluation can substantially improve diagnostic confidence. This article briefly reviews relevant embryologic steps i...
PurposeWe reviewed the genotypes and the imaging appearances of cochleae in CHARGE patients from two large tertiary centres and analysed the observed cochlear anomalies, providing detailed anatomical description and a grading system. The goal was to gain insight into the spectrum of cochlear anomalies in CHARGE syndrome, and thus, in the role of th...
Background and purpose:
An "unwound" or "offset" cochlea has been described as a characteristic imaging feature in patients with branchio-oto-renal syndrome, and recently recognized to be associated in particular to those with EYA1 gene mutations. Determination of this feature has traditionally relied on subjective visual assessment. Our aim was t...
The use of standardized imaging protocols is paramount in order to facilitate comparable, reproducible images and, consequently, to optimize patient care. Standardized MR protocols are lacking when studying head and neck pathologies in the pediatric population. We propose an international, multicenter consensus paper focused on providing the best c...
Background and purpose:
Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound or offset cochlea is a highly characteristic marker for branchio-oto-renal syndrome. Our goals were to examine the prevalence of this finding in a branchio-oto-renal syndrome cohort a...
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the...
PurposeRhabdomyosarcoma (RMS) is a malignant tumor frequent in children. The frequency and characteristics of cranial nerve involvement in pediatric head and neck (H&N) RMS have been scarcely reported. The aim of this study is to review a large cohort of pediatric head and neck RMS with an emphasis on cranial nerve involvement.Methods
We retrospect...
Recognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation. We prese...
The purpose of this study is to identify salient magnetic resonance imaging (MRI) findings of pediatric IIH, to determine the relevance of these findings with regard to disease pathogenesis, and to relate these findings to the clinical presentation towards identification of risk factors of disease. A retrospective, a case–control study of 38 pediat...
Variants in multiple tubulin genes have been implicated in neurodevelopmental disorders, including malformations of cortical development (MCD) and congenital fibrosis of the extraocular muscles (CFEOM). Distinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanis...
Objective:
We report a case of facial paresis and profound hearing loss from post-transplant lymphoproliferative disorder (PTLD) in a pediatric patient with neuroblastoma.
Patient:
Three-year-old boy with rapidly progressive right facial paresis and sensorineural hearing loss. High-risk neuroblastoma had been diagnosed 1 year earlier, treated wi...
Introduction
Pediatric head and neck desmoid tumors are rare neoplasms that can cause significant morbidity due to infiltration of vital anatomic structures. The goal of this study is to review presentation, evaluation, and management of these tumors.
Methods
Retrospective study of children with head and neck desmoid tumors treated from 1999 to 20...
Background and purpose:
Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy are α-dystroglycan-related muscular disorders associated with brain malformations and eye abnormalities in which no structural inner ear abnormality has been described radiologically. We collected patients from 6 tertiary pediatric...
Congenital ossicular anomalies are important, often-missed causes of pediatric conductive hearing loss that may occur in isolation or as part of a syndrome. Accurately identifying and describing ossicular anomalies is important for determining treatment options and surgical planning. We review ossicular development, anatomy, and CT imaging findings...
Background:
MRI utilization and need for monitored anesthesia care (MAC) in children have increased. However, MAC is associated with exam delays, increased cost, and safety concerns.
Objective:
To evaluate the success rate of non-sedated neuroradiological MRI studies in children 1-7 years old and to investigate factors associated with success....
Systemic therapy for pediatric desmoid tumors has been challenged by a lack of high‐quality clinical evidence and potential adverse effects. The gamma‐secretase inhibitor nirogacestat has shown promising efficacy in adults. We report four cases of pediatric and young adult desmoid tumor patients (three with familial adenomatous polyposis [FAP] synd...
Objectives
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. The goal of this research is to analyze the role of surgery in the management of pediatric parameningeal (PM) and non‐PM head and neck RMS (HNRMS).
Study Design
Retrospective review.
Methods
Retrospective chart review of patients <20 years of age treated for HNR...
Background
Faster and motion robust magnetic resonance imaging (MRI) sequences are desirable in pediatric brain MRI as they can help reduce the need for monitored anesthesia care, which is a costly and limited resource that carries medical risks.
Objective
To evaluate the diagnostic equivalency of commercially available accelerated motion robust M...
Purpose:
To evaluate the finding of anomalous superior oblique muscles in congenital fibrosis of the extraocular muscles (CFEOM), a feature not previously emphasized in this condition.
Methods:
The medical records of all patients clinically or genetically diagnosed with CFEOM at Boston Children's Hospital between 2010 and 2018 were reviewed retr...
Introduction
Mucoepidermoid carcinoma is a rare malignant salivary gland neoplasm in the pediatric population. Few studies have discussed best practice with respect to diagnosis and treatment in children.
Objective
To present our institution's experience with the evaluation and management of pediatric mucoepidermoid carcinoma of the head and neck....
Objective
Pleomorphic adenoma is the most common benign salivary gland neoplasm in children. Recurrence and malignant transformation are concerns necessitating proper treatment.
The goal of this research was to discuss the presentation, evaluation, and management of pediatric pleomorphic adenoma of the head and neck.
Methods
Retrospective chart re...
Objective
To discuss the presentation, evaluation, and management of squamous cell carcinoma of the head and neck in the pediatric population.
Methods
Medical records of pediatric (≤20 years) patients treated for squamous cell carcinoma of the head and neck between 1996 and 2016 were reviewed. Data pertaining to clinical presentation, diagnostic m...
Seven unrelated individuals (four pediatric, three adults) with the TUBB3 E410K syndrome, harboring identical de novo heterozygous TUBB3 c.1228 G>A mutations, underwent neuropsychological testing and neuroimaging. Despite the absence of cortical malformations, they have intellectual and social disabilities. To search for potential etiologies for th...
Objective:
To review the presentation of pediatric vallecular cysts and outline an approach for evaluation and management.
Methods:
Medical records of patients diagnosed with vallecular cyst between 2005 and 2017 were reviewed. Data on demographics, clinical characteristics, diagnostic methods, surgical procedures, and outcomes were collected an...
MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder charac...
Dural cerebral veins (CV) are required for cerebrospinal fluid reabsorption and brain homeostasis, but mechanisms that regulate their growth and remodeling are unknown. We report molecular and cellular processes that regulate dural CV development in mammals and describe venous malformations in humans with craniosynostosis and TWIST1 mutations that...
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey...
Pairwise comparison of z-stacks from confocal images of laterally mounted tmem8cwt/wt (WT) and tmem8cinsT/insT (Mutant) embryos at 48 hpf stained with fluorophore-conjugated phalloidin to label the myofibers red, and with DAPI to label the myonuclei white. Note that because the muscle fibers of the mutant fish do not fuse, the mutant is flatter whe...
Supplementary Figures and Tables.
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disabilit...
Objective:
Children with surgically treated hydrocephalus commonly undergo multiple neuroimaging studies. The purpose of this article is to share an experience with use of the as low as reasonably achievable (ALARA) principle to guide the imaging approach to these patients.
Conclusion:
A reasonably achievable strategy for minimizing ionizing rad...
OBJECTIVE: To further evaluate the role of chromosomal translocation (15;19) in the presentation of the carcinoma (CA) of the upper aerodigestive tract.
STUDY DESIGN AND SETTING: A retrospective study at a tertiary care pediatric medical center.
RESULTS: Seven patients with a mean age of 12 years presented with CA of nasopharynx (N = 2), sinonasal...
Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans an...
Purpose:
Chronic nonbacterial osteomyelitis (CNO) is a focal sterile inflammatory osteitis in children that most commonly develops in the long bones, but can occur in any bone. The disease course is variable, ranging from acute and self-resolving isolated lesions to chronic recurrent multifocal osteomyelitis (CRMO), which is frequently associated...
Study objective:
To evaluate the prevalence of computed tomography (CT) sinus imaging in a pediatric cystic fibrosis (CF) population, determine changes in Lund Mackay (LM) scores over time, and estimate radiation exposure.
Study design:
Case series with chart review.
Setting:
Tertiary care children's hospital.
Subjects and methods:
In total,...
Objectives/hypothesis:
To review the presentation of congenital pediatric nasal dermoid and present guidelines for its evaluation and management.
Study design:
Retrospective chart review from 1970 to 2014 at a tertiary referral children's hospital.
Methods:
The medical records of all patients diagnosed with a nasal dermoid during the study per...
Objectives/hypothesis:
To describe our experience and current management approach for congenital nasal neuroglial heterotopia (NGH) and encephaloceles.
Study design:
Retrospective chart review at a tertiary pediatric hospital from 1970 to 2013.
Methods:
Thirty patients met inclusion criteria: 21 NGH and nine encephaloceles. Data including demo...
Background and purpose:
Juvenile xanthogranuloma is a non-Langerhans cell histiocytosis primarily affecting children. The purpose of this study was to characterize the imaging features of histologically confirmed pediatric head and neck juvenile xanthogranuloma.
Materials and methods:
A retrospective review was performed of medical records and i...
First branchial cleft anomalies are an uncommon group of congenital malformations. Anatomically complex in origin, they present with an impressive array of signs and symptoms. There are several classification systems available, rendering them challenging in terms of preoperative assessment and surgical planning. The objective of this report is to d...
Congenital alacrima is a form of primary lacrimal deficiency characterized by aplasia or hypoplasia of the lacrimal gland. The puncta and salivary glands may also be aplastic. The case of a 5-year-old girl with congenital alacrima secondary to lacrimal gland agenesis and hypoplasia without punctal or salivary gland involvement and without other sys...
This article reviews a variety of congenital and developmental disorders of the pediatric orbit with particular emphasis on ocular lesions, followed by a description of developmental and neoplastic orbital and ocular masses. The relationship of these diseases to various syndromes and/or known genetic mutations is also highlighted.
Copyright © 2015...
We noted enlargement of the internal auditory canal in several of our patients with posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, and sternal or supraumbilical defects (PHACES) association and hence evaluated children with PHACES for the presence of an enlarged internal auditory canal and potent...
Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis...
A wide variety of congenital nasal lesions can present to clinical attention due to airway obstruction, the presence of a mass, and/or cosmetic deformity, including pyriform aperture stenosis, choanal atresia, nasopharyngeal atresia, arrhinia, congenital germline fusion cysts, cephaloceles, neuroglial heterotopia, nasolacrimal duct mucoceles, hamar...
Detecting and monitoring optic neuropathy in patients with craniosynostosis is a clinical challenge due to limited cooperation, and subjective measures of visual function. The purpose of this study was to appraise the correlation of peripapillary retinal nerve fiber layer (RNFL) thickness measured by spectral-domain ocular coherence tomography (SD-...
Abstract Benign Triton tumor (neuromuscular choristoma) is a rare mass that most commonly occurs as a multinodular expansion of tissue in or around large nerves. Intracranial occurrence is uncommon. We report a 4-year-old girl presenting with a right-sided facial mass and trismus. Imaging revealed a large, complex mass extending from the ventral as...
Retropharyngeal abscesses are a difficult to diagnose condition in children. Though some children with such abscesses can be managed with intravenous (IV) antibiotics alone, our group has argued that surgical drainage is the gold standard for safe management and likely leads to shorter hospital stays. We present prospective data on children with re...
: Combined oxidative phosphorylation deficiency type 7 (COXPD7) is a rare disorder of mitochondrial metabolism that results in optic atrophy and Leigh syndrome-like disease. We describe 2 siblings with compound heterozygous mutations in the recently identified C12orf65 gene who presented with optic atrophy and mild developmental delays and subseque...
Objectives/hypothesis:
To review the presentation and management of malignant tumors of the mandible in children.
Study design:
Case series.
Methods:
Children 0 to 21 years old presenting to a tertiary pediatric hospital with a diagnosis of a malignant tumor involving the mandible were included. Comparison groups included children from the Sur...
A 5-week-old boy presented with a mass on the right side of his neck noted immediately at birth, with no subsequent reported change in size or shape. He had no respiratory distress, breastfeeding difficulties, or systemic infectious or inflammatory manifestations. The child was born full term by cesarean delivery following an uncomplicated pregnanc...
Establishing the diagnosis of morning glory disc anomaly is crucial to appropriate patient treatment. Although typically made clinically, the diagnosis is not always straightforward, especially in circumstances where physical examination is limited. The goal of this study was to define the spectrum and frequency of orbital findings in a series of p...
A 9-year-old boy with a history of recurrent acute otitis media presented to the pediatric otolaryngology clinic for evaluation after failing a hearing screen at school. Of note, he had been using a progressively louder voice over the last several years. Examination of his ears revealed intact tympanic membranes, a small amount of serous fluid in t...
Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis of mice and humans. We have identified a founder homozygous missense mutation in HOXB1 in two families from a conservative German American population. The resulting phenotype includes bil...
Conjunctival cysts unrelated to surgery or trauma are uncommon adnexal lesions in children and may be difficult to recognize. We report the clinical and pathological findings of an apparently spontaneous conjunctival cyst in the upper eyelid of a child whose first ophthalmological examination was at 7 months of age. The cyst was surgically excised...
To assess neurodevelopmental outcome of fetuses diagnosed with callosal abnormalities after referral for ventriculomegaly.
This sub-analysis of a prospective study of 430 fetuses, which were referred for ventriculomegaly and underwent sonography and magnetic resonance imaging (MRI), included those fetuses with a diagnosis of corpus callosal abnorma...
LEARNING OBJECTIVES
1) Become familiar with the following aspects of the congenital hearing loss: imaging approach, relevant anatomy, classification system for inner ear anomalies, which imaging abnormlities suggest a specific syndrome or genetic abnormality, clinical impact of various imaging findings.
ABSTRACT
This presentation will briefly outl...
Described is the first case report, to our knowledge, of a middle-ear dermoid in a child with branchio-oto-renal (BOR) syndrome. Radiographic, pathologic, and intraoperative figures are shown. This was a diagnostic and surgical challenge as the presentation was similar to a congenital cholesteatoma and the child had numerous significant temporal bo...