Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta-analysis

Objective: To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP). Methods: A retrospective cohort study of cases of prenatally diagnosed ASP followed in two tertiary centers and a meta-analysis combining data from the cohort study with data from published studies identified in a systematic review were carried out. Only cases with apparently isolated ASP on antenatal ultrasound and/or magnetic resonance imaging and with available postnatal follow-up data were considered eligible for inclusion. The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo-optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or behavioral disorder or epilepsy) in non-SOD children. The incidence of SOD in infants with apparently normal optic pathways on antenatal imaging was also evaluated. Results: Fifteen cases of isolated ASP, with median postnatal follow-up of 36 months (range, 12-60 months), were selected from the two centers. Six previously published studies met the inclusion criteria for the systematic review and a total of 78 cases were eligible for the analysis, including the 15 cases from our series. Genetic tests were carried out antenatally in 30 fetuses, of which two had an abnormal result (pooled proportion, 9.0% (95% CI, 1.8-20.7%); I2  = 0%). Additional or discordant imaging findings were noted postnatally in 9/70 (pooled proportion, 13.7% (95% CI, 3.5-29.0%); I2  = 63.9%) cases. Of all 78 neonates with available follow-up, SOD was diagnosed postnatally in 14 (pooled proportion, 19.4% (95% CI, 8.6-33.2%); I2  = 51.2%). In 60 cases, the optic pathways were considered to be normal on antenatal imaging, and six of these (pooled proportion, 9.1% (95% CI, 1.1-24.0%); I2  = 62.0%) were diagnosed postnatally with SOD. Of the 46 infants with available neurological follow-up who were not affected by SOD, a major neurological disability was diagnosed in three (pooled proportion, 6.5% (95% CI, 0.5-18.6%); I2  = 40.1%). Conclusions: In the vast majority of cases with a prenatal diagnosis of apparently isolated ASP, the prognosis is favorable. However, an additional anomaly is detected after birth in about 14% of cases and has a negative impact on clinical outcome. Detailed antenatal assessment of the brain and optic pathways is strongly recommended in order to identify the presence of associated anomalies. Antenatal visualization of apparently normal optic pathways does not rule out SOD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology

Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce

Partitioned Versus Duplicated Internal Auditory Canal: When Appropriate Terminology Matters

Objective: A double internal auditory canal (IAC) is an un- common malformation among temporal bone anomalies related to sensorineural hearing loss. This anomaly has been described as an isolated finding in otherwise normal patients, as well as a frequent feature in pontine tegmental cap dysplasia (PTCD). In both circumstances, the term duplication is currently used to describe this malformation. We conducted a retrospective study on 3 cases of IAC duplication (2 isolated and 1 PTCD-associated form) and reviewed the literature to evaluate both imaging fea- tures and differences between the 2 forms. Intervention(s): All 3 patients underwent high-resolution com- puted tomography and magnetic resonance imaging. Results: Neuroimaging documented different radiologic features between isolated and PTCD-associated IAC duplication. In the isolated form, the IAC seemed to have normal position and size, but it was partitioned in 2 portions by a complete or incompletebony septum. Conversely, in the PTCD-associated form, neuro- imaging revealed the presence of 2 separated and anomalously coursing canals for the facial and vestibulocochlear nerve. Conclusion: The aforementioned different radiologic findings probably reflect a more complex spectrum of etiopathogenetic mechanisms affecting the facioacoustic primordium and lead- ing to overlapping anomalies of the IAC. We speculate on the appropriate terminology in describing this entity and propose that ‘‘partition’’ should be used to describe a double IAC oth- erwise normal in size and location; conversely, ‘‘duplication’’ should be reserved for IAC anomalies encountered in patients with PTCD or other hindbrain malformations

Bright Spotty Lesions in the Myelon: A Hallmark of AQP-4 Positive Neuromyelitis Optica Spectrum Disorders

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Goldenhar syndrome associated with contralateral agenesis of the internal carotid artery.

Congenital absence of the internal carotid artery (ICA) is an extremely rare vascular anomaly. Aplasia and displacement of the horizontal portion of the petrous carotid artery have been described in a patient with mandibulofacial dysostosis. To the best of our knowledge, the association between Goldenhar syndrome and ipsilateral ICA agenesis has emerged only in one case documented in the medical literature to date. We describe here a case that illustrates the association of Goldenhar syndrome with contralateral agenesis of the ICA incidentally detected on brain magnetic resonance imaging and subsequently confirmed on magnetic resonance angiography and high resolution computed tomography

Aberrant Mid-Sagittal Fiber Tracts Visualized by Diffusion Tensor MR

In hemimegalencephaly, MR imaging often reveals mid-sagittal band-like structuresbetween the lateral ventricles. We describe the clinical presentation, morphologic abnormalities,conventional MR imaging, diffusion tensor MR and fiber tract (FT) reconstruction in a 14-year-oldboy with unilateral hemimegalencephaly. We retrospectively examined MR images to determinewhether these structures are aberrant mid-sagittal fibers

Neonatal forearm compartment syndrome: Look for cerebral stroke

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Bilateral cerebellopontine angle lipomas.

Cerebellopontine angle (CPA) lipomas are extremely rare lesions and usually unilateral. We describe a case of a 36-year-old man with bilateral aural fullness that was discovered to have bilateral CPA lipomas associated with an abnormal hindbrain segmentation appearance. The patient was evaluated with 3.0T magnetic resonance imaging (MRI) system. MRI demonstrated the presence of bilateral CPA masses partially extending into the internal auditory canals. These lesions were hyperintense on both T1- and T2 weighted images. Facial and vestibulo-cochlear nerves together with tortuous vascular structures and fibro-connective septa were identified on T2-weighted 3D Fast Imaging Employing Steady-state Acquisition (FIESTA) sequences as areas of lower intensity coursing through the masses. Gadolinium administration yielded no enhancement. Conservative management was adopted

Aberrant Mid-Sagittal Fiber Tracts Visualized by Diffusion Tensor MR: A Case Report

In hemimegalencephaly, MR imaging often reveals mid-sagittal band-like structures between the lateral ventricles. We describe the clinical presentation, morphologic abnormalities, conventional MR imaging, diffusion tensor MR and fiber tract (FT) reconstruction in a 14-year-old boy with unilateral hemimegalencephaly. We retrospectively examined MR images to determine whether these structures are aberrant mid-sagittal fibers