Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding.

BACKGROUND: Septopreoptic holoprosencephaly is a mild form of holoprosencephaly in which the midline non-separation is restricted to the septal or preoptic regions. This entity has only been described in a small case series in which associated intracranial abnormalities were limited to the midline structures. OBJECTIVE: To describe the radiologic findings of septopreoptic holoprosencephaly and highlight that it can be associated with a variety of intracranial abnormalities, not merely with abnormalities restricted to midline structures as previously reported. MATERIALS AND METHODS: We retrospectively identified 22 children whose MRIs were confirmed to have non-separation restricted to the septal and preoptic region, fulfilling the criteria for septopreoptic holoprosencephaly. We then categorized MRIs as having, in addition, either intracranial abnormalities limited to the midline structures or major abnormalities not limited to the midline structures. RESULTS: Five children had intracranial abnormalities limited to the midline structures. Seventeen children had major intracranial abnormalities not limited to the midline structures. The major abnormalities included: patterning defects of the midbrain-hindbrain (elongated midbrain, shortened pons, shortened/elongated medulla, partial rhombencephalosynapsis), bilateral perisylvian polymicrogyria, microcephaly, megalencephaly and a spheno-ethmoidal encephalocele. Recognized syndromes/chromosomal abnormalities were also observed in this patient group. CONCLUSION: Our results suggest that septopreoptic holoprosencephaly has been under-recognized and under-reported to date. We propose that searching for this anomaly should be part of the complete assessment of the midline in all children undergoing brain MRI for intracranial malformations.

The Contribution of MRI after Fetal Anomalies Have Been Diagnosed by Ultrasound: Correlation with Postnatal Outcomes.

OBJECTIVE: The aim of this study was to investigate the additional value of fetal magnetic resonance imaging (MRI) in the assessment and management of fetuses with abnormal findings on ultrasound. METHODS: A total of 257 patients who had fetal MRI following the ultrasound diagnosis of a fetal anomaly, or were at high risk, were included. The patients were grouped by referral category for fetal MRI. Fetal MRI was compared to ultrasound in the detection of anomalies, i.e. whether additional findings were identified and if this changed diagnosis, prognosis and management during pregnancy. RESULTS: Ultrasound findings were confirmed on fetal MRI in 89% of the cases. Additional findings were seen with MRI in 28% of all patients. The diagnosis changed in 21% and the prognosis in 19% of the cases. Perinatal management changed in 8%. The antenatal findings were confirmed in all cases that had a postmortem examination following termination of pregnancy. In all the pregnancies that continued to delivery and for which the postnatal outcome is known, the findings correlated in 97% of the cases. CONCLUSION: Fetal MRI provided additional detection of fetal anomalies, leading to a change in diagnosis and prognosis in 19% of the cases. Neonatal and postmortem findings mostly confirmed the fetal MRI diagnosis, suggesting it to be a useful tool for clinical decision making in perinatal management.

Antenatal imaging of anomalies of the corpus callosum: a decade of experience.

PURPOSE: To assess the diagnostic accuracy of antenatal ultrasound and foetal magnetic resonance imaging (FMRI) over the past decade in the diagnosis of anomalies of the corpus callosum in a tertiary referral centre. METHODS: A single tertiary referral centre ultrasound database was searched for cases of suspected callosal anomalies between 2003 and 2012. All subsequent ultrasound scans, MRIs, neonatal imaging, postmortem investigations and birth records were reviewed. Callosal anomalies were classified into isolated or complex based on the presence or absence of accompanying congenital anomalies. RESULTS: Forty-three cases of callosal anomaly were detected; 60 % were investigated by FMRI revealing additional diagnoses in 23 %; half of which were anomalies of cortical development. Of those considered isolated who underwent FMRI, 21 % were diagnosed with additional anomalies, changing the classification to a complex callosal anomaly. CONCLUSION: In cases of callosal anomaly suspected on ultrasound, FMRI provides greater certainty and the potential to identify significant additional anomalies. The additional information may alter or clarify prognosis and help parents to better understand the pathology, allowing for informed decisions about the pregnancy to be made. However, some cases may still be diagnosed with additional anomalies after delivery and parents should be aware of such limitations of antenatal imaging.

Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI.

OBJECTIVE: This study aimed to describe tumour identification on magnetic resonance imaging (MRI) in a 35-week fetus with familial retinoblastoma (RB) and report the use of prenatal ultrasound (US) and MRI screening in the management of fetuses at high risk of RB. METHOD: This is a retrospective review of the prenatal course and immediate postnatal findings in all children considered at high risk of RB who had prenatal imaging with both US and MRI at our institution over a 5-year period. RESULTS: Five patients met the inclusion criteria. No lesions were identified on US in any patients. Fetal MRI identified bilateral posterior pole lesions in one patient at 35 weeks' gestation. Of the four remaining patients, three developed lesions by 5 weeks of age. Only one fetus was delivered early following detection of RB. CONCLUSION: We present the first reported case of RB detected in a high-risk fetus on screening MRI at 35 weeks' gestation. A protocol for screening this population using both imaging modalities is presented.

Apert syndrome: temporal lobe abnormalities on fetal brain imaging.

OBJECTIVES: Apert syndrome is characterized by craniosynostosis and complex hand and foot syndactyly, and an increased risk of brain, palate, heart, and visceral malformations, and intellectual disability. This study aims to describe the structural brain abnormalities detected by dedicated neuroimaging of fetuses with Apert syndrome. METHODS: Retrospective review of ultrasound and magnetic resonance imaging brain imaging obtained in six fetuses with a diagnosis of Apert syndrome. RESULTS: Five fetuses had attenuation of the septal leaflets, and two had corpus callosum dysgenesis. All six had temporal lobe expansion and overconvolution and temporal lobe clefts. The temporal lobe abnormalities preceded the development of cranial deformity in two fetuses. CONCLUSION: Overexpansion and overconvolution of the temporal lobe is evident antenatally and is particularly conspicuous in the fetus when the normal brain is still relatively smooth (approximately 24 to 28 weeks of gestation).

Perinatal and short-term neonatal outcomes of posterior fossa anomalies.

OBJECTIVE: To describe the perinatal and neonatal outcomes for fetuses with posterior fossa (PF) anomalies - mega-cisterna magna (MCM), persistent Blake's pouch (PBP) or the Dandy-Walker continuum (DWC) - using a new classification. METHODS: 46 cases with PF anomaly diagnosed on ultrasound (US) between 16 and 28 weeks' gestation were included. The images were reviewed and classified as one of the following: MCM, PBP or DWC. Outcomes were obtained from patient records. RESULTS: 30 cases with DWC, 6 with MCM, and 10 with PBP were identified. Associated anomalies were present in all groups, but more frequent in DWC. Agenesis of the corpus callosum and ventriculomegaly were more common in DWC than in MCM or PBP. Only fetuses with DWC were found to have chromosomal abnormalities. Perinatal outcomes differed significantly, with terminations of pregnancy more frequent in DWC. In the immediate postnatal period, infants with DWC had worse outcomes than those with MCM and PBP. Across all groups, those with associated anomalies had worse outcomes than those with an isolated PF anomaly. CONCLUSION: Infants antenatally diagnosed with DWC had worse perinatal and short-term neonatal outcomes than those with MCM or PBP. Those with associated anomalies had uniformly poorer outcomes than those with isolated anomalies.

Magnetic resonance imaging findings in pediatric bilateral vocal fold dysfunction.

OBJECTIVES: We studied the findings of brain magnetic resonance imaging (MRI) in infants with idiopathic congenital bilateral vocal fold dysfunction (CBVFD). METHODS: We performed a retrospective investigation of a case series. RESULTS: We identified 26 children (14 male, 12 female) over 11 years. Three children were excluded. Thirteen patients required airway interventions, including continuous positive airway pressure (4 patients), endotracheal intubation (1), and tracheostomy (8). The findings on brain MRI were abnormal in 8 patients (35%). Tracheostomy was required in 3 patients (38%) with abnormal MRI findings, as compared with 5 of 15 patients (33%) with normal MRI findings. The MRI abnormalities involved evidence of white matter injury (2), abnormal white matter signal (1), subdural blood (3), cerebral swelling (1), and perisylvian polymicrogyria (1). The cranial ultrasound findings were abnormal in 4 of 11 patients. The MRI findings were abnormal in 2 of 7 children in whom the cranial ultrasound findings were normal, and in 2 of the 4 patients in whom the cranial ultrasound findings were abnormal. CONCLUSIONS: The MRI abnormalities were nonspecific; however, they may indicate unrecognized perinatal intracranial injury as being related to CBVFD. In addition, MRI may reveal an underlying structural brain anomaly. Cranial ultrasound has poor sensitivity and specificity. Hence, MRI should be considered as part of the routine assessment of neonates with CBVFD.

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.

We describe a fetus with severe osteopetrosis diagnosed on post-mortem radiographs following termination of pregnancy at 29 weeks for major brain malformations detected on ultrasound. SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typically considered part of the phenotypic spectrum of osteopetrosis. We review the literature, and propose that this may represent a novel autosomal recessive variant of osteopetrosis.

Perinatal airway management of neonatal cervical teratomas.

Cervical teratomas are rare but life-threatening neonatal tumors and management of the fetus with a cervical teratoma that threatens the airway remains a clinical challenge. This has been revolutionized by advances in fetal imaging and management of the airway at delivery including the use of Ex-utero Intrapartum Treatments (EXIT procedures). We present a retrospective case series of three neonates managed over a 12-month period. Following pre-natal fetal MRI and a multi-disciplinary management approach, two newborns were managed by prompt post-natal endotracheal intubation while an EXIT procedure was required in one. All three underwent surgical resection in the first few days of life. A decision regarding the best means by which to manage the airway in fetal cervical teratoma requires fetal MRI and a multi-disciplinary team approach to determine whether EXIT, or a safer approach from a maternal perspective can be employed. We also recommend routine endotracheal intubation at birth, due to the risk of spontaneous intra-tumoral hemorrhage. The need for surgery should be planned early, as rapid growth of the tumor can threaten the viability of the overlying skin and surrounding structures.

Diagnosis of diaphragmatic hernia with associated congenital lung lesions: contribution of fetal MRI.

This report describes 2 cases of congenital diaphragmatic hernia with associated congenital lung lesion which were diagnosed antenatally using ultrasound (US) and magnetic resonance imaging (MRI). We describe the antenatal imaging findings and the short-term postnatal outcome. Association of these fetal pathologies is rare and a challenging diagnosis. MRI supplements US in the evaluation of the lung parenchyma and its volume, in particular in the setting of distortion of the normal intrathoracic anatomy.

Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings.

We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy. TD is the most common lethal skeletal dysplasia and is characterized by short long bones, which are often bowed (type 1), a small thorax, and skull deformities. There is also a recognised constellation of abnormalities of the brain primarily affecting the temporal lobes that, although well described in the postmortem setting, are not widely recognized in fetal imaging. Familiarity with this appearance will facilitate accurate antenatal diagnosis.

Pneumorrhachis secondary to traumatic pneumomediastinum in a child.

Pneumorrhachis (air within the spinal canal) is rare, and even more so in the paediatric population. We report a case in a 4-year-old boy that resolved spontaneously on treating the underlying traumatic pneumomediastinum, and discuss the causes, mechanism and implications of this condition.

Magnetic resonance imaging in neonatal nonketotic hyperglycinemia.

This report presents two neonates with nonketotic hyperglycinemia in whom conventional magnetic resonance imaging revealed structural cerebral abnormalities, diffusion-weighted imaging indicated abnormalities of myelinated white matter, and magnetic resonance spectroscopy provided biochemical evidence of elevated cerebral glycine levels. The early use of combined magnetic resonance modalities in these severely affected infants helped in prognostication and clinical management.

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally-inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected.

Severe fetal brain dysgenesis with focal calcification.

OBJECTIVE: To describe a fetal syndrome of abnormal brain development with intracranial calcification, identified in three successive pregnancies. METHODS: Clinical, imaging, and pathological descriptions, and pedigree assessment. RESULTS: All three affected pregnancies were terminated, following imaging diagnosis of brain abnormality. The most complete fetal study, from the third of these pregnancies, showed widespread foci of brain calcification not associated with inflammation, with extensive necrosis and calcification of periventricular white matter, but with sparing of thalamus and basal ganglia. The corticospinal tracts were severely hypoplastic. CONCLUSION: This condition appears to be a 'new' genetically determined, probably autosomal recessive disorder of severe early brain dysgenesis with focal calcification, resembling, but distinct from, certain other clinical genetic entities of which brain calcification is a part.

The CT appearances of delayed amniotic fluid clearance from the lungs in an infant with absent pulmonary valve and congenital lobar emphysema.

Congenital lobar emphysema (CLE) is a cause of severe neonatal respiratory distress. Overexpansion of the affected pulmonary lobe in the fetus is due to narrowing of the airway, with a resultant 'ball-valve' effect. At birth, there may be delayed clearance of fetal lung fluid. Early chest radiographs show opacification of the hyperexpanded lobe. The CT findings in the immediate neonatal period have not been previously reported. We describe the imaging in a neonate with tetralogy of Fallot and absent pulmonary valve with secondary CLE. CT demonstrates the hyperexpanded lobe with initial thickening of the interlobular septa and alveolar ground glass attenuation, with subsequent clearing. This resorption of fetal lung fluid via the pulmonary interstitium should not be confused with interstitial lung disease.

Vaginal calculus as a late complication of bladder exstrophy.

STUDY OBJECTIVE: To document an unusual finding of a vaginal calculus in a patient with bladder exstrophy. DESIGN: Case report. SETTING: Tertiary Centre, Royal Children's Hospital, Melbourne, Australia. PARTICIPANTS: Fourteen year old female. INTERVENTIONS: Cystotomy, introitoplasty. MAIN OUTCOME: Removal of vaginal calculus. MEASURES: None. RESULTS: Documentation and removal of a vaginal calculus. CONCLUSIONS: Vaginal calculi should be included in the differential diagnosis of urolithiasis in patients with bladder exstrophy.

Neonatal nasopharyngeal teratomas: cross sectional imaging features.

BACKGROUND: Neonatal nasopharyngeal teratomas are extremely rare and there are few reports describing both CT and MRI features of these lesions. OBJECTIVE: To describe the CT and MRI appearances of neonatal nasopharyngeal teratoma. MATERIALS AND METHODS: Three neonates with nasopharyngeal teratomas and severe respiratory distress were reviewed. RESULTS: The nasopharyngeal mass resulted in severe respiratory compromise requiring urgent intervention. Characteristic mandibular and pterygoid plate abnormalities demonstrated by CT and MRI are described. CONCLUSIONS: Prenatal MRI enables the diagnosis, delineates tumour extent and allows planned delivery. CT and MRI play a key role in differentiating neonatal nasopharyngeal teratomas from other causes of a neonatal neck mass, thus optimising management.