Bilateral Macrostomia Associated with Aqueductal Stenosis and Glial Heterotopias

2007 ◽  
Vol 44 (5) ◽  
pp. 558-561
Author(s):  
Ernesto Pepe ◽  
Paola Petricig ◽  
Paola Peretta ◽  
Giuseppe Cinalli
Keyword(s):  
Magnetic Resonance Imaging ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Aqueductal Stenosis ◽  
Resonance Imaging ◽  
Facial Anomalies ◽  
Magnetic Resonance Imaging Mri ◽  
Triventricular Hydrocephalus ◽  
Glial Heterotopia

We report on an Italian boy, born to normal and nonconsanguineous parents with a prenatal diagnosis of ventriculomegaly and subependymal glial heterotopias. At birth bilateral macrostomia was diagnosed without other evident facial anomalies. Magnetic resonance imaging (MRI) showed triventricular hydrocephalus and aqueductal stenosis and confirmed the nodules of glial heterotopia. The bilateral macrostomia was surgically corrected with the vermilion square flap method and W-plasty technique and follow up MRI at 6 months showed mild increase of ventricular dilatation without signs of active hydrocephalus. The association between macrostomia and hydrocephalus has been reported only in rare cases of complex malformative syndromes but never with isolated macrostomia.

Magnetic Resonance Imaging (MRI) Diagnosis of Fetal Corpus Callosum Abnormalities and Follow-up Analysis

2021 ◽  
pp. 088307382110162
Author(s):  
Xu Li ◽  
Qing Wang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Resonance Imaging ◽  
Neurodevelopmental Delay ◽  
Mri Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Lost To Follow Up ◽  
Singleton Pregnancies

Objectives: We analyzed the magnetic resonance imaging (MRI) manifestations of fetal corpus callosum abnormalities and discussed their prognosis based on the results of postnatal follow up. Methods: One hundred fifty-five fetuses were diagnosed with corpus callosum abnormalities by MRI at our hospital from 2004 to 2019. Gesell Development Scales were used to evaluate the prognosis of corpus callosum abnormalities after birth. Results: Corpus callosum abnormalities were diagnosed in 149 fetuses from singleton pregnancies, and 6 pairs of twins, 1 in each pair is a corpus callosum abnormality. Twenty-seven cases (27/155) were lost to follow up, whereas 128 cases (128/155) were followed up. Of these, 101 cases were induced for labor, whereas 27 cases were born naturally. Among the 27 cases of corpus callosum abnormality after birth, 22 cases were from singleton pregnancies (22/27). Moreover, 1 twin from each of 5 pairs of twins (5/27) demonstrated corpus callosum abnormalities. The average Gesell Development Scale score was 87.1 in 19 cases of agenesis of the corpus callosum and 74.9 in 3 cases of hypoplasia of the corpus callosum. Among the 5 affected twins, 2 had severe neurodevelopmental delay, 2 had mild neurodevelopmental delay, and 1 was premature and died. Conclusion: The overall prognosis of agenesis of the corpus callosum is good in singleton pregnancies. Hypoplasia of the corpus callosum is often observed with other abnormalities, and the development quotient of hypoplasia of the corpus callosum is lower compared with agenesis of the corpus callosum. Corpus callosum abnormalities may occur in one twin, in whom the risk may be increased.

scholarly journals Bone marrow abnormalities detected by magnetic resonance imaging as initial sign of hematologic malignancies

2018 ◽  
Author(s):  
Ida Sofie Grønningsæter ◽  
Aymen Bushra Ahmed ◽  
Nils Vetti ◽  
Silje Johansen ◽  
Øystein Bruserud ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Bone Marrow ◽  
Magnetic Resonance ◽  
Case Reports ◽  
Cell Types ◽  
Hematologic Malignancies ◽  
Resonance Imaging ◽  
Initial Sign ◽  
Magnetic Resonance Imaging Mri

The increasing use of radiological examination, especially magnetic resonance imaging (MRI), will probably increase the risk of unintended discovery of bone marrow abnormalities in patients where a hematologic disease would not be expected. In this paper we present four patients with different hematologic malignancies of nonplasma cell types. In all patients the MRI bone marrow abnormalities represent an initial presentation of the disease. These case reports illustrate the importance of a careful diagnostic follow-up without delay of patients with MRI bone marrow abnormalities, because such abnormalities can represent the first sign of both acute promyelocytic leukemia as well as other variants of acute leukemia.

scholarly journals Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

2016 ◽  
Vol 18 (3) ◽  
pp. 378 ◽  
Author(s):  
Talita Micheletti Helfer ◽  
Alberto Borges Peixoto ◽  
Gabriele Tonni ◽  
Edward Araujo Júnior
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Three Dimensional ◽  
3D Ultrasound ◽  
Resonance Imaging ◽  
Perinatal Complications ◽  
Wide Range ◽  
Magnetic Resonance Imaging Mri

Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures.  It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.

Acute Cerebellitis or Postinfectious Cerebellar Ataxia? Clinical and Imaging Features in Acute Cerebellitis

2020 ◽  
Vol 35 (6) ◽  
pp. 380-388
Author(s):  
Mirac Yildirim ◽  
Rahsan Gocmen ◽  
Bahadir Konuskan ◽  
Safak Parlak ◽  
Dilek Yalnizoglu ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Cerebellar Ataxia ◽  
Cerebellar Atrophy ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Acute Cerebellitis ◽  
Hyperintense Signal ◽  
Magnetic Resonance Imaging Mri

Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There were 10 boys and 5 girls aged 3-15 years, median 9.5 years. The most common first symptoms were ataxia, vomiting, and headache. Magnetic resonance imaging (MRI) generally showed bilateral symmetrical T2 hyperintense changes with moderate swelling in the cerebellar cortex. Tonsillar herniation was present in 73.3% and obstructive hydrocephalus in 26.6%. Etiologic workup for infectious pathogens revealed Mycoplasma pneumoniae, influenza A virus, cytomegalovirus, and varicella zoster virus in 1 case each. Fourteen of 15 patients were treated with intravenous and/or oral steroids and 8 cases with intravenous immunoglobulin. No patient required surgical decompression. Neurologic examination median 12 months later revealed ataxia and dysmetria in 4 cases (27%), accompanied by memory difficulties, dysarthria or tremor. Follow-up magnetic resonance imaging (MRI; n = 12) showed diffuse cerebellar cortical T2-hyperintense signal changes in 11 cases and cerebellar atrophy in 9. The diagnosis of acute cerebellitis rather than acute postinfectious cerebellar ataxia should be considered when headache and vomiting accompany ataxia in a child. Acute cerebellitis heals with sequelae in about one-third of cases. The absence of fatalities in our series suggests early diagnosis, and steroid treatment can increase the chance of recovery. MRI results were not found to be predictive of outcome.

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