By Girish Fatterpekar, Thomas P. Naidich, Peter M. Som
Useful and clinically concentrated, mind and backbone Imaging - a name within the instructing records sequence - provide you with over three hundred attention-grabbing and well-presented situations that will help you greater diagnose any disorder of the mind and backbone. professional within the box, Dr. Girish Fatterpekar, MD makes use of a logical association all through, making referencing tricky diagnoses more straightforward than ever sooner than. distinctive discussions of present day modalities and applied sciences preserve you brand new, and not easy diagnostic questions probe your wisdom of the cloth. This special, case-based source provide you with a great way to sharpen your diagnostic talents and examine for board checks.
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Additional resources for Brain and Spine
It can be unilateral or bilateral. ONH is typically associated with small optic discs. It can occur in isolation or in combination with a myriad of functional and anatomical predominantly midline brain abnormalities. Such associated midline brain abnormalities include septo-optic dysplasia, hypopituitarism, and hypoplasia of the corpus callosum. ONH risk factors include young maternal age, gestational diabetes, prenatal exposure to smoking, alcohol, and recreational drugs; preterm birth; and young maternal age.
Diagnosis: Joubert syndrome. DISCUSSION Definition/Background Joubert syndrome (JS) is an autosomal-recessive disorder characterized by a specific mid-hindbrain malformation, presenting with hypotonia, cerebellar ataxia, and developmental delay/mental retardation. Mutations in the NPHP1, AHI1, and CEP290 genes have been described in some patients with JS. Some authors believe that the primary cilium/basal body apparatus is defective in some subtypes of this disease, but how this causes the complex phenotype remains unknown.
A gray matter–lined cerebrospinal fluid-filled cleft is seen to extend from the ependymal lining of the ventricle to the pial surface of the brain. A characteristic feature of such clefts is a slight outpouching or “nipple” along the ependymal surface of the cleft. This is most often seen with closed lip, or minimally open lip, schizencephaly. The gray matter lining the cleft is always abnormal, and frequently demonstrates a nodular gyral pattern. Less Common Radiologic Manifestations A large percentage of patients with schizophrenia present with an absent septum pellucidum.