Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.

KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities.

Prenatal diagnosis of frontonasal dysplasia associated with bilateral periventricular nodular heterotopia.

Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result of a malformation of the frontonasal elevation. It could occur either in isolation or as part of a syndrome such as frontonasal dysplasia associated with periventricular heterotopia. Our goal is to document the first clinical case of prenatal diagnosis for frontonasal dysplasia associated with periventricular heterotopia by fetal magnetic resonance imaging (MRI) at weeks 19.5 and 29 and postnatal MRI. In conclusion, the presence of frontonasal dysplasia in a prenatal ultrasonography should always be followed by a fetal MRI with routine screening for periventricular nodular heterotopias so as to establish a more adequate prognosis for the family.

In utero diagnosis of PHACE syndrome by fetal magnetic resonance imaging (MRI).

The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of diagnostic suspicion based on fetal MRI. We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right microphthalmia, leading to the suspicion of PHACE syndrome. The diagnosis was confirmed at birth, together with other criteria: facial hemangioma, absent posterior inferior cerebellar artery, and dysplasia of the right internal carotid artery. To our knowledge, this is the first live case described prenatally with both ocular and cerebellar findings on fetal MRI that suggest PHACE syndrome. The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations.

[Diffusion MRI in the study of hepatic lesions]. / Difusión en resonancia magnética en el estudio de lesiones hepáticas.

Diffusion weighted imaging (DWI) in magnetic resonance imaging (MRI) is currently an important tool for detecting and characterising hepatic lesions, as well as for monitoring and evaluating the response to the treatment of the tumour disease. The use of this technique is also being assessed for the study of diffuse liver disease. Among the additional advantages of DWI-MRI, is the absence of emission of ionising radiation and not having to use paramagnetic contrasts, which means it can be used in the study of patients with renal failure. Another advantage is the short duration of the diffusion sequence, which means that the examination time in abdominal MRI is scarcely increased. Therefore, it is important that the physician is aware of this diagnostic technique, since DWI is a sequence that should be routinely included in the liver MRI study protocol.

Role of New Functional MRI Techniques in the Diagnosis, Staging, and Followup of Gynecological Cancer: Comparison with PET-CT.

Recent developments in diagnostic imaging techniques have magnified the role and potential of both MRI and PET-CT in female pelvic imaging. This article reviews the techniques and clinical applications of new functional MRI (fMRI) including diffusion-weighted MRI (DWI), dynamic contrast-enhanced (DCE)-MRI, comparing with PET-CT. These new emerging provide not only anatomic but also functional imaging, allowing detection of small volumes of active tumor at diagnosis and early disease relapse, which may not result in detectable morphological changes at conventional imaging. This information is useful in distinguishing between recurrent/residual tumor and post-treatment changes and assessing treatment response, with a clear impact on patient management. Both PET-CT and now fMRI have proved to be very valuable tools for evaluation of gynecologic tumors. Most papers try to compare these techniques, but in our experience both are complementary in management of these patients. Meanwhile PET-CT is superior in diagnosis of ganglionar disease; fMRI presents higher accuracy in local preoperative staging. Both techniques can be used as biomarkers of tumor response and present high accuracy in diagnosis of local recurrence and peritoneal dissemination, with complementary roles depending on histological type, anatomic location and tumoral volume.

RM fetal en las anomalías del SNC: Aspectos de interés para el obstetra / Abnormalities in fetal CNS: Interesting issues to the obstetrician

La resonancia magnética (RM) fetal es una técnica de imagen en auge, útil en la valoración del cerebro y columna fetal. Ayuda a estudiar el desarrollo cerebral fetal y se puede realizar un diagnóstico precoz de las anomalías congénitas. La imagen de RM muestra gran resolución de contraste y permite diferenciar mejor que la ecografía entre hallazgos normales y patológicos. Además, algunas malformaciones cerebrales o lesiones destructivas ocultas en la ecografía prenatal pueden ser detectadas por RM. Revisamos las indicaciones, utilidad, seguridad, aspectos técnicos de la RM fetal y la apariencia del desarrollo cerebral fetal, y evaluamos su contribución en el diagnóstico de las patologías de las diferentes regiones cerebrales y de la patología espinal fetal.

Fetal MR imaging (MRI) is an increasingly available technique used to evaluate the fetal brain and spine, because it provides a unique opportunity to evaluate fetal brain development and to make an early diagnosis of congenital abnormalities. MRI allows a better differentiation between normal and abnormal signal intensity of fetal tissues due to its higher contrast resolution compared to prenatal sonography (US). Therefore, structural abnormalities such as brain malformations and destructive lesions that could be sonographically occult on prenatal sonography can be detected at fetal MRI. We review indications, utility, safety, and technical aspects of fetal MR imaging and the appearance of normal fetal brain development evaluating its contribution in the diagnosis of fetal diseases of different brain regions and spinal disorders.

Schizencephaly: pre- and postnatal magnetic resonance imaging.

Schizencephaly is a rare disorder of neuronal migration that is characterized by the presence of clefts that extend from the ependymal surface of the lateral ventricles to the pial lining of the cortex. The authors present the case of a female patient with a prenatal diagnosis made by magnetic resonance imaging (MRI), her clinical course, and neurorradiological evolution following birth. A 6-year-old female, with right open lip schizencephaly, was diagnosed by means of prenatal cerebral magnetic resonance at the gestational age of 25 weeks. The patient does not present intellectual disability, reaching developmental mile-stones at normal time points. The MRI of the brain reveals right, perisylvian, closed lip schizencephaly. Prenatal MRI is remarkably useful in the diagnosis and prognostic approach to the condition. It is less useful in classifying the unilateral forms (open vs closed lips), and hence, its prognostic validity is more limited.

Current imaging modalities in the diagnosis of cervical cancer.

Imaging has become an important adjunct to the clinical assessment of uterine cancer, specially magnetic resonance imaging (MRI) studies. In cervical cancer, the two areas in which MRI is superior to other diagnostic imaging modalities are local diseases staging and evaluation for local recurrence. MRI is an integral part in staging the primary tumour, monitoring responce to treatment, detecting complications and recurrence, and in planning radiotheraphy. MRI has a crucial role in the development of fertility-sparing surgery in young women with cervical cancer. Imaging continually evolves in response to changes in clinical practice and technologic improvements. The choice of imaging modality is not only case specific but also depends of the radiologic experience and equipment availability.