Mutations in phospholipase C eta-1 () are associated with holoprosencephaly.

Background: Holoprosencephaly is a spectrum of developmental disorder of the embryonic forebrain in which there is failed or incomplete separation of the prosencephalon into two cerebral hemispheres. To date, dominant mutations in sonic hedgehog (SHH) pathway genes are the predominant Mendelian causes, and have marked interfamilial and intrafamilial phenotypical variabilities.

Methods: We describe two families in which offspring had holoprosencephaly spectrum and homozygous predicted-deleterious variants in phospholipase C eta-1 ().

Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients.

Background: Walker-Warburg syndrome (WWS), an autosomal recessive disease, is the most severe phenotype of congenital muscular dystrophies. Its diagnosis remains primarily clinical and radiological. Identification of its causative variants will assist genetic counseling.

Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.

Objective: To describe the epilepsy, neuropsychiatric manifestations, and neuroimaging findings in a group of patients with 22q11.2 DS, and to correlate the size of the deleted genetic material with the severity of the phenotype.

Methods: We retrospectively analyzed the medical records of 28 patients (21 pediatric patients and 7 adults) with a genetically confirmed diagnosis of 22q11.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

The redox state of the neural progenitors regulates physiological processes such as neuronal differentiation and dendritic and axonal growth. The relevance of endoplasmic reticulum (ER)-associated oxidoreductases in these processes is largely unexplored. We describe a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX)-related transmembrane-2 (TMX2); these variants were detected by exome sequencing in 14 affected individuals from ten unrelated families presenting with congenital microcephaly, cortical polymicrogyria, and other migration disorders.

Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter.

Background: Mutations in AIMP1, which plays an important role in the development and maintenance of axon-cytoskeleton integrity and regulating neurofilaments, cause neurodegeneration of variable severity and white matter abnormalities.

Methods: From the patient records we analyzed the clinical evaluation, molecular genetics, neurodiagnostic, and neuroradiological investigations.

Results: We describe six members of a large consanguineous family with a phenotype of severe neurodegeneration in the form of developmental delays, progressive microcephaly, epilepsy, and failure to thrive.

Pilocytic astrocytoma mimicking cavernous angioma: Imaging features and histological characteristics.

Pilocytic astrocytoma (PA) commonly occurs during the first two decades of life. Typical locations include cerebellum, optic nerve, optic chiasm/hypothalamus and brainstem. PA should be considered in the differential diagnosis of patients with brain tumors manifesting with hemorrhagic onset.

MR imaging of intracranial hemangiopericytomas.

Objective: To describe the MR features of primary intracranial hemangiopericytomas (HPCs) on conventional imaging, diffusion and MR spectroscopy and aim to determinate distinguishing features from meningiomas.

Methods: From 2006 to 2012, seven patients with pathologically confirmed primary intracranial HPCs were included. The clinical data, conventional MR findings (n=7), DWI features (n=7) and MR spectroscopy (n=5) were retrospectively analyzed.

Duodenal adenocarcinoma presenting as a mass with aneurismal dilatation.

Duodenal adenocarcinoma is frequent. Aneurysmal dilatation of the small bowel is reported to be a lymphoma characteristic imaging finding. A 57-year-old male was found to have a duodenal adenocarcinoma with aneurismal dilatation on imaging which is an exceptional feature.

PHACES syndrome associated with carcinoid endobronchial tumor.

PHACES syndrome consists of the constellation of manifestations including posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), hemangiomas of the face and scalp, arterial abnormalities, cardiac defects, eye anomalies and sternal defects. We present a case with a possible PHACES syndrome including sternal cleft and supraumbilical raphé, precordial skin tag, persistent left superior vena cava and subtle narrowing of the aorta with an endobronchial carcinoid tumor. All these anomalies were discovered on chest multi-detector CT.

Diffusion weighted MR imaging and proton MR spectroscopy findings of central neurocytoma with pathological correlation.

Purpose: Three cases of histopathologically confirmed central neurocytoma (CN) are presented, emphasizing diagnostic imaging issues: conventional magnetic resonance imaging with Proton magnetic resonance spectroscopy (MRS) and diffusion-weighted imaging (DWI) findings of CN.

Materials And Methods: Patients age ranged from 17 to 32 years, Imaging include a CT scan and MR examination with DWI and proton MRS on a 1.5-T system.

[Herpetic meningoencephalitis and acute disseminated encephalomyelitis: magnetic resonance imaging sequence].

We report a case of herpetic encephalitis in a 2-year-old girl. Diagnosis was made at 1st by clinical symptoms and MRI and confirmed by lumbar puncture. Forty days later, new neurologic symptoms appeared and MRI diagnosed acute disseminated encephalomyelitis.

[Myositis ossificans circumscripta: the contribution of imaging].

Objectives: Illustrate the specific and nonspecific aspects of myositis ossificans circumscripta (MOC) in standard imaging, cross-sectional imaging (sonography, CT, and MRI), and bone scintigraphy.

Patients And Methods: Eight patients presenting with MOC (three men and five women) were explored using standard radiography (eight cases), sonography (seven cases), scintigraphy (four cases), CT (six cases), and MRI (four cases).

Results: Standard x-rays and sonography of the soft tissue showed a well-defined mass containing calcifications in 75% of the cases.

[Cerebral hydatid disease: imaging features].

Cerebral hytatid cysts (HC) are extremely rare, forming 2% of all intra cranial space occupying lesions even in counties where the disease is endemic. HC diagnosis is usually based on a pathognomonic computed tomography (CT) pattern. In order to assess the value of MR we reviewed the CT (n=25) and magnetic resonance (MR, n=4 including diffusion and proton magnetic resonance spectroscopy in 1) imaging of 25 patients with pathologically confirmed cerebral hydatid disease.

[Imaging of acute cerebellitis in children. Report of 4 cases].

Acute cerebellitis is one of the main causes of acute cerebellar dysfunction in children. It is either infectious, usually viral, post-infectious or post vaccinal in etiology. Diagnosing acute cerebellitis may be difficult in patients with only subtle cerebellar signs and when cerebro-spinal fluid examination is normal.

[MR imaging in spinal cord injury].

Purpose: To describe MR features of spinal trauma and assess the value of MR imaging in the prognosis.

Material And Methods: Retrospective confrontation between initial and follow up MRI findings and clinical features in 7 young patients with spinal cord injury.

Results: Five lesions were due to motor vehicle accidents and 2 lesions were secondary to falls.

[Magnetic resonance imaging features of desmoplastic cerebral ganglioglioma of infancy: report of 1 case].

Desmoplastic infantile ganglioglioma is a rare intracranial tumor of infancy, characterized by solid and cystic component, voluminous size and supratentorial location. These tumors are diagnosed usually below the age of 2 years. We report 1 case of desmoplastic ganglioglioma in 13-year-old male.

[Atypic radiologic aspect of a renal cell carcinoma in children].

Renal cell carcinoma is rare in children and is usually found in late childhood. The authors report on an exceptional case of renal cell carcinoma in a 10-year-old girl. The radiological aspect is misleading and has not been previously reported in the literature.