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Lorcan O'Tuama, MD - Radiology
A 4 month old female patient presents for evaluation of seizures and respiratory difficulty. What is the diagnosis?
A) Dandy Walker Malformation
B) Joubert Syndrome
B) Joubert Syndrome
Correct: (B) Joubert syndrome. Explanation: Joubert syndrome is a hindbrain malformation characterized by abnormal formation of the cerebellar vermis (red arrow) and absent decussation of superior cerebellar peduncle, pontine, and corticospinal tracts. The cerebellar vermis demonstrates abmormal deep sagittal clefting, and there is a characteristic "molar tooth" appearance of the midbrain (green arrows). Additionally, due to abnormal vermian cleft formation, the fourth ventricle demonstrates a characteristic "bat wing" appearance (blue arrows). Clinically, these patients often present with seizures and alternating apnea and hyperpnea in the neonatal period. On clinical examination, they often have large, prominent foreheads, epicanthal folds, upturned noses, and protruding tongues. They may additionally have retinal anomalies such as pigmented retinopathy coloboma formation. (A) DandyWalker malformation is a congenital anomaly thought to arise from abnormal development of the rhombencephalon with resultant abnormal expansion of the fourth ventricle which inhibits normal caudal migration of the tentorium and torcular herophili. The result is a classic configuration of the posterior fossa with three key features: 1. Marked vermian hypoplasia or agenesis 2. Cystic dilatation of the fourth ventricle 3. "Torcularlambdoid inversion"—the torcular lies too far superiorly, cranial to the lambdoid suture; normally it should lie below the lambdoid. There are several other CNS and nonCNS anomalies associated with DandyWalker malformation, including cleft lip and palate, grey matter heterotopias and cortical dysplasias, callosal dysgenesis, PHACES syndrome (Posterior fossa malformation, Hemangiomas and Arterial malformations, Cardiac defects, Eye anomalies, Sternal cleft), cardiac malformations, and genitourinary abnormalities. Life expectancy tends to follow the severity of these associated malformations. (C) Rhombencephalosynapsis is characterized by fusion of the cerebellar hemispheres and absence of a midline vermis. The "molar tooth" appearance should dissuade this diagnosis. (D) Holoprosencephaly is the diagnosis when the finding is a single midline ventricle. It is due to failure of hemispheric cleavage and may be associated with other findings including facial defects such as hypotelorism and midface hypoplasia as well as cyclopia, presence of a proboscis, single maxillary central incisor, among other midline facial defects. The cerebral falx is absent, and there is frequently an azygous anterior cerebral artery. Patients are typically markedly mentally retarded. There are varying degrees of holoprosencephaly. Alobar holoprosencephaly is the most severe, with no separation of hemispheres and a single central ventricle. Semilobar type has separation of the temporal lobes. Lobar types typically have a single frontal lobe with separation of the posterior brain structures and presence of the splenium of the corpus callosum. (E) Posterior fossa arachnoid cysts can be difficult to differentiate from mega cisterna magna but typically appear as extraaxial lesions producing mass effect on the adjacent brain. They follow CSF signal on T1 and T2weighted imaging.
A 26 year old patient with cystic fibrosis undergoes the procedure shown. What is the most feared complication?
A) Pseudoaneurysm formation and severe hemoptysis
B) Bronchial AV fistula
D) Tension pneumothorax
E) Contrast nephropathy
Correct: (C) Paralysis. Explanation: Bronchial artery embolization, pictured here, requires selection of the bronchial arteries (red arrows), which most commonly arise directly from the aorta to supply the nongasexchanging components of the lungs. Occasionally, the bronchial arteries may arise from intercostal arteries as well. When performing bronchial angiography, it is important to identify the anterior spinal arteries, particularly the artery of Adamkiewicz prior to proceeding with embolization. The artery of Adamkiewicz tends to arise from lower thoracic levels or upper lumbar levels and provides the greatest supply of the anterior spinal cord. It arises from intercostal arteries and takes a classic "hairpin" turn before ascending and descending to provide arterial flow to the spinal cord. Inadvertent, nontarget embolization of this vessel will produce paralysis, the most feared complication of bronchial artery embolization. (A) Pseudoaneurysm formation is a potential complication, but can be managed with endovascular techniques. (B) Bronchial AV fistula is also a potential complication but can also be managed with endovascular techniques. (D) Tension pneumothorax is not a common complication of bronchial artery embolization. (E) Contrast nephropathy can be seen after bronchial embolization, but is not as immediately life or limbthreatening as anterior spinal infarction.
Semin Intervent Radiol. Sep 2006; 23(3): 223-229.
Questions taken from the Radiology ABR Exam Question Bank.