Visualization of caudothalamic groove at expert fetal neurosonography.

Objectives: To describe the sonographic features of the caudothalamic groove in the third trimester of pregnancy in a group of structurally normal fetuses and to report a small series of cases with abnormal appearance of the caudothalamic groove at antenatal cranial ultrasound.

Methods: This was an observational study conducted at two fetal medicine referral units in Italy. A non-consecutive cohort of pregnant women with a singleton non-anomalous pregnancy were recruited prospectively and underwent three-dimensional (3D) ultrasound assessment of the fetal brain at 28-32 weeks' gestation.

The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum.

Background: Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corpus callosum.

Objective: This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses with complete agenesis of the corpus callosum.

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the gene associated with microcephalic osteodysplastic primordial dwarfism type II.

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction.

A patient with mosaic USP9X gene variant.

The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.

Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study.

Objective: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography.

Method: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound.

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.

Duplication of the Pituitary Gland (DPG)-Plus Syndrome Associated With Midline Anomalies and Precocious Puberty: A Case Report and Review of the Literature.

Duplication of the pituitary gland (DPG)-plus syndrome is a very rare developmental disorder with few cases described in the literature and characterized by multiple midline and central nervous system malformations. The hypothalamus and hypophysis involvement may be clinically associated with endocrine abnormalities. A 5.

Multiple Acute Ischemic Strokes in a COVID-19 Patient: a Case Report.

We describe a case of a 47-year-old Italian, immunocompromised, and obese woman infected by COVID-19 presenting with fever (39.6 °C) and respiratory symptoms. Neurological examination was normal.

Prenatal magnetic resonance imaging within the 26th week of gestation may predict the fate of isolated upward rotation of the cerebellar vermis: insights from a multicentre study.

Objectives: We investigated whether prenatal magnetic resonance imaging (MRI) within 26 weeks of gestation (GW) may predict the fate of isolated upward rotation of the cerebellar vermis (URCV).

Methods: This retrospective multicentre observational study included foetuses diagnosed with isolated URCV in prenatal MRI performed within 26 GW. Isolated URCV was defined by a brainstem-vermis angle (BVA) ≥ 12° in the MR midline sagittal view without abnormalities of the supratentorial structures, brainstem, or cerebellum hemispheres.

Cortical malformations and COL4A1 mutation: Three new cases.

Aim: The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1-mutated patients typically shows vascular abnormalities and white matter lesions.

Transient posterior cerebral arteriopathy: An unusual case enterovirus-related.

Transient Cerebral Arteriopathy (TCA) is one of the main causes of childhood stroke. Here we present an unusual case of Arterial Ischemic Stroke (AIS) caused by a TCA of posterior flow and originally located in the right thalamus. The detection of enterovirus in the cerebrospinal fluid allowed us to suppose a probable post infectious etiology.

A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy.

We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter.

A painful stiff neck following an ear, nose, and throat surgical procedure: case report.

Grisel syndrome is a rare, nontraumatic atlantoaxial subluxation, typical of developmental ages and characterized by head flexion/rotation and painful fixation. Neurological symptoms may occur. It is secondary to head/neck infections and ear, nose, and throat surgery (adenoidectomy, tonsillectomy, and mastoidectomy).

Partitioned versus duplicated internal auditory canal: when appropriate terminology matters.

Objective: A double internal auditory canal (IAC) is an uncommon 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.

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.

Cochlear implantation in children with cochlear nerve deficiency.

Objective: The aim of this study was to report on auditory performance after cochlear implantation in children with cochlear nerve deficiency.

Methods: A retrospective case review was performed. Five patients with pre-lingual profound sensorineural hearing loss implanted in an ear with cochlear nerve deficiency participated in the study.

Influenza A H1N1 Related Acute Necrotizing Encephalopathy: Radiological Findings in Adulthood.

In 2009 a novel swine-origin Influenza A H1N1 virus was identified in Mexico and Southern California. Since it was first recognized, neurological complications including acute necrotizing encephalopathy (ANE) have been globally documented in association with this viral infection. ANE is mostly known to occur in the paediatric population.

Unilateral ectopic parotid gland in CHARGE syndrome.

Unilateral absence of a parotid gland at the expected location is an extremely rare condition with only a few cases reported in the medical literature and, to our knowledge, never previously described in association with CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness). Although this entity is usually associated with a complex constellation of anomalies, additional findings have been described, including cranial nerve dysfunction (VII, VIII, IX and X). We present a case that illustrates the association of CHARGE syndrome with absence of parotid gland at normal location with ectopic parotid tissue lateral to masseter muscle, incidentally detected on brain MRI and subsequently confirmed on neck MRI.

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. Here we describe three adolescent patients with PTCD.

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.

Cochlear implantation in pontine tegmental cap dysplasia.

Pontine tegmental cap dysplasia (PTCD) is an exceptionally rare brain stem and cerebellar malformation characterized by ventral pontine hypoplasia, vaulted pontine tegmentum, hypoplasia of the vermis, subtotal absence of middle cerebellar peduncles, lateralized course of the superior cerebellar peduncles, and absence or alteration of the inferior olivary nucleus. The main clinical features are multiple cranial neurophaties and ataxia. Sensorineural hearing loss of varying severity is almost always present.

Occasional finding of a dural arteriovenous fistula in a newborn with orbital lymphangioma. A case report.

Dural arteriovenous fistulas (DAVF) are vascular malformations rarely occurring in the paediatric population (1,2,3). Prompt diagnosis and treatment are mandatory to prevent life-threatening complications including congestive heart failure and severe brain injury (1,2). We describe the case of a female newborn with an orbital lymphangioma treated for a posterior fossa DAVF.