Lissencephaly is a severe disease characterized by brain malformation. The main causative gene of lissencephaly is LIS1. Mutation or deletion of LIS1 leads to proliferation and migration deficiency of neurons in brain development. However, little is known about its biological function in embryonic development. In this article, we identified the expression patterns of zebrafish LIS1 gene and inv...

A 55-year-old woman underwent radiosurgery for a left cerebral hemisphere arteriovenous malformation (AVM) and developed radiation-induced necrosis causing a massive edema in the surrounding brain tissues. Despite various therapies, the edema expanded to the ipsilateral hemisphere and induced neurological symptoms. The radiation-induced necrotic lesion was surgically removed 4 years after radio...

Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.

Racial/Ethnic Differences in Longitudinal Risk of Intracranial Hemorrhage in Brain Arteriovenous Malformation Patients Helen Kim, PhD; Stephen Sidney, MD, MPH; Charles E. McCulloch, PhD; K.Y. Trudy Poon, MS; Vineeta Singh, MD; S. Claiborne Johnston, MD, PhD; Nerissa U. Ko, MD; Achal S. Achrol, BS; Michael T. Lawton, MD; Randall T. Higashida, MD; William L. Young, MD; for the UCSF BAVM Study Pro...

Holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4th 8th week of gestation and is usually associated with multiple midline facial anomalies. Herein we report an antenatal case of such patient. Patient was evaluated and because of the magnitude of the problem induction was done which led t...

We report a case of unruptured arteriovenous malformation in which an extensive zone of increased signal intensity in the brain parenchyma adjacent to the nidus is demonstrated on T2-weighted MR. This area of perilesional hyperintense signal exerts a compressive effect, suggesting that it represents perilesional edema.

Eight patients with a histologically proven angiographically occult arteriovenous malformation of the brain had plain and infused computed tomographic (CT) examinations. In five cases angiography revealed a hypovascular mass and in three cases the angiogram was normal. On CT examination a high density lesion (six cases) and ventricular asymmetry (five cases) were demonstrated. In three patients...

Holoprosencephaly is a brain malformation that develops as a result of a defect in development of prosencephalon during early gestation. Holoprosencephaly can be diagnosed with prenatal ultrasonography and magnetic resonance imaging. We report herein a case with cyclopia and holoprosencephaly detected by prenatal ultrasonography.

We report a case of epidermal nevus syndrome involving the brain in which there is chronic occlusion of the left distal internal carotid artery resulting in ipsilateral atrophy. Orbital and cerebellopontine angle cistern lipomas and a wide cortical developmental malformation are associated with the condition. We present MR imaging findings of a patient and discuss features in the context of oth...

X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum Juliane Najm1,13, Denise Horn2,13, Isabella Wimplinger1, Jeffrey A Golden3, Victor V Chizhikov4, Jyotsna Sudi4, Susan L Christian4, Reinhard Ullmann5, Alma Kuechler6, Carola A Haas7, Armin Flubacher7, Lawrence R Charnas8, Gökhan Uyanik9, Ulrich Frank10, Eva Klopocki2, William B Dobyns4,11,12 &...