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Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal seizures. Genetic testing can confirm mutations in the ALDH7A1 gene, which encodes antiquitin. To avoid delays in initiating treatment while awaiting confirmatory genetic testing, it is recommended that all neonates with unexplained seizures should receive trial of intravenous (IV) pyridoxine to assess for responsiveness. However, oral pyridoxine is not commonly continued in the absence of the typical EEG changes. Two cases are presented that highlight the potential inadequacy of this single-step approach. One neonate ultimately diagnosed with pyridoxine-dependent seizures had no EEG changes after administration of IV pyridoxine. In contrast, another neonate who did not have this diagnosis had profound EEG changes after pyridoxine administration. We present 2 cases that highlight the difficulties in using initial EEG response to IV pyridoxine in establishing a diagnosis of pyridoxine-dependent seizures in the neonate. Given the availability of biochemical markers and gene testing, we suggest that oral pyridoxine treatment should be continued until biochemical and/or genetic testing has confirmed the presence or absence of pyridoxine-dependent epilepsy.

The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.

This chapter is an attempt to highlight pediatric neurologic diseases that are either common, have common or unique ophthalmic manifestations, or have management concerns involving the eye, with special attention to eye findings. We discuss seizure disorders and the ophthalmologic side effects of antiepileptic medications, various forms of headaches with eye findings, central nervous system neoplasms and paraneoplastic syndromes, cerebral malformations, neuromuscular disorders, and demyelinating disorders.

A 13-year-old, right-handed boy was referred for movement and speech abnormalities. His mother reports his voice becoming soft and choppy at 8 years of age. Over the past year, he developed head jerking to the right while using his right hand. The patient denied a premonitory urge or ability to suppress these movements. They had become so disabling that he had to eat and write with his left hand. He has no other medical problems, other than a pectus excavatum. His family history is notable for his father being diagnosed with Tourette syndrome as a teen. His father continues to have episodic head jerking to the left at times. The patient's general examination was notable for an anxious teenager with marfanoid features including pectus excavatum and long limbs. The patient's neurologic examination revealed strained, choppy speech, which was present while speaking but not while singing. He had involuntary forced head turn to the right with right tilt and right upper extremity sustained twisting posturing when trying to use his right hand. He had right upper extremity fast jerking movements with attempts to use his right arm. His deep tendon reflexes were brisk, with crossed adductors. The remainder of his neurologic examination was normal. ### Question for consideration: 1. What type of movement is being described in the history? GO TO SECTION 2 Although his father had been diagnosed with Tourette syndrome, the patient's movements were neither suppressible nor preceded by an urge, which are the hallmarks of tics. The strained choppy voice was consistent with spasmodic dysphonia, a form of laryngeal dystonia. His forced head turn to the right and twisting posturing was consistent with cervical dystonia and limb dystonia, respectively. The jerking movements of his arm suggested a dystonic tremor vs myoclonus. On his initial examination it was difficult to differentiate between these 2 …

Pancreatic injury after blunt abdominal trauma is exceedingly uncommon, occurring in less than 5 % of major abdominal injuries. When blunt pancreatic injury does occur, however, it is notoriously difficult to identify. The use of serum amylase has been advocated in the diagnosis of such injury, yet it is neither sensitive nor specific. Computed tomography has become widely accepted in the evaluation of hemodynamically stable patients after blunt abdominal trauma, although it is clearly not a sensitive modality for the detection of pancreatic injury. In fact, numerous examples of normal CT scans with missed pancreatic injury have been documented. However, careful attention to CT technique and awareness of the CT manifestations of pancreatic injury may facilitate the diagnosis of pancreatic injury. Additionally, important information about the pancreatic duct can be obtained with the use of MRI-pancreatography or endoscopic retrograde pancreatography. Accurate, timely identification of major pancreatic ductal injury is imperative because delay in diagnosis and associated vascular injuries are largely responsible for the high morbidity and mortality associated with blunt pancreatic trauma. Blunt pancreatic trauma can be managed successfully by means of both operative and selective approaches.

This report describes a patient who presented to our institution after a high-speed motor vehicle accident with an abnormal superior mediastinum as shown on supine chest radiograph. Helical computed tomographic aortography and thoracic aortography revealed the patient to have a pseudoaneurysm in a rarely encountered site, in the anterolateral region of the right brachiocephalic artery. The imaging features of this case and the relevant literature are reviewed.

In the majority of cases, carcinoma of the thyroid presents as a cold nodule by radioiodine and Tc-99m sodium pertechnetate scintigraphy. Whereas the presence of a hot nodule usually implies a benign entity, it does not provide complete assurance against thyroid malignancy. Presented is a rare case of metastatic pure papillary thyroid carcinoma appearing as a hot nodule on Tc-99m sodium pertechnetate and I-123 sodium iodide scintigraphy. The implications of such a case, its management, and review of the pertinent literature are discussed.

to evaluate and characterize an incidentally found mass, to search for metastatic disease in a patient with a known malignancy, and to evaluate abnormal adrenal function. CT is the imaging technique of choice for the initial evaluation of the adrenal glands in adults. Sonography is used in children. The adrenal glands reside within Gerota’s fascia. They are composed of two independent functional components, the cortex and medulla

Splenogonadal fusion is a rare developmental anomaly usually presenting as a scrotal mass. The imaging findings and etiology of this condition are discussed. Knowledge of this entity may help to prevent unnecessary orchiectomy.

Castleman disease, or angiofollicullar hyperplasia, is a rare cause of lymph node enlargement. This most commonly occurs within the thorax, although rare extrathoracic presentations have been described. Only two cases with hepatic localization have been reported. We present a case of Castleman disease within the porta hepatis masquerading as a hepatic neoplasm.

Introduction The International Classification of Headache Disorders classifies ophthalmoplegic migraine (OM) under “cranial neuralgias and central causes of facial pain.” OM is diagnosed when all the following criteria are satisfied: At least two attacks fulfilling criterion B. Migraine-like headache accompanied or followed within four days of its onset by paresis of one or more of the III, IV and/or VI cranial nerves. Parasellar orbital fissure and posterior fossa lesions ruled out by appropriate investigations. In children the syndrome is rare and magnetic resonance (MR) shows strongly enhancing thickened nerve at the root entry zone (REZ). Method The authors review the literature focusing on pathogenesis theories. Results The authors suggest that ischemic reversible breakdown of the blood-nerve barrier is the most probable cause of OM and to include MR findings in the hallmarks of the disease. Conclusion OM is the same disease in adulthood and childhood, even if in adults the MR imaging findings are negative. In the authors’ opinion, OM should be classified as migraine.

Intracranial aneurysms are acquired lesions (5–10% of the population), a fraction of which rupture leading to subarachnoid hemorrhage with devastating consequences. Until now, the exact etiology of intracranial aneurysms formation remains unclear. The low incidence of subarachnoid hemorrhage in comparison with the prevalence of unruptured IAs suggests that the vast majority of intracranial aneurysms do not rupture and that identifying those at highest risk is important in defining the optimal management. The most important factors predicting rupture are aneurysm size and site. In addition to ambiental factors (smoking, excessive alcohol consumption and hypertension), epidemiological studies have demonstrated a familiar influence contributing to the pathogenesis of intracranial aneurysms, with increased frequency in first- and second-degree relatives of people with subarachnoid hemorrhage. In comparison to sporadic aneurysms, familial aneurysms tend to be larger, more often located at the middle cerebral artery, and more likely to be multiple. Other than familiar occurrence, there are several heritable conditions associated with intracranial aneurysm formation, including autosomal dominant polycystic kidney disease, neurofibromatosis type I, Marfan syndrome, multiple endocrine neoplasia type I, pseudoxanthoma elasticum, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II and IV. The familial occurrence and the association with heritable conditions indicate that genetic factors may play a role in the development of intracranial aneurysms. Genome-wide linkage studies in families and sib pairs with intracranial aneurysms have identified several loci on chromosomes showing suggestive evidence of linkage, particularly on chromosomes 1p34.3–p36.13, 7q11, 19q13.3, and Xp22. For the loci on 1p34.3–p36.13 and 7q11, a moderate positive association with positional candidate genes has been demonstrated (perlecan gene, elastin gene, collagen type 1 A2 gene). Moreover, 3 of the polymorphisms analyzed in 2 genes (endothelial nitric oxide synthase T786C, interleukin-6 G572C, and interleukin-6 G174C) were found to be significantly associated with ruptured/unruptured aneurysms: the endothelial nitric oxide synthase gene single-nucleotide polymorphisms increased the risk, while IL-6 G174C seemed protective. More recently, two genomic loci (endothelin receptor A and cyclin-dependent kinase inhibitor 2BAS) have been found to be significantly associated with intracranial aneurysms in the Japanese population; endothelin-1 is a potent vasoconstrictor produced by the endothelial cells. Until now, there are no diagnostic tests for specific genetic risk factors to identify patients who are at a high risk of developing intracranial aneurysms. Knowledge of the genetic determinants may be useful in order to allow clues on stopping aneurysm formation and obtain diagnostic tools for identifying individuals at increased risk. Further multicenter studies have to be carried out.

We present a generative approach for simultaneously registering a probabilistic atlas of a healthy population to brain magnetic resonance (MR) scans showing glioma and segmenting the scans into tumor as well as healthy tissue labels. The proposed method is based on the expectation maximization (EM) algorithm that incorporates a glioma growth model for atlas seeding, a process which modifies the original atlas into one with tumor and edema adapted to best match a given set of patient’s images. The modified atlas is registered into the patient space and utilized for estimating the posterior probabilities of various tissue labels. EM iteratively refines the estimates of the posterior probabilities of tissue labels, the deformation field and the tumor growth model parameters. Hence, in addition to segmentation, the proposed method results in atlas registration and a low-dimensional description of the patient scans through estimation of tumor model parameters. We validate the method by automatically segmenting 10 MR scans and comparing the results to those produced by clinical experts and two state-of-the-art methods. The resulting segmentations of tumor and edema outperform the results of the reference methods, and achieve a similar accuracy from a second human rater. We additionally apply the method to 122 patients scans and report the estimated tumor model parameters and their relations with segmentation and registration results. Based on the results from this patient population, we construct a statistical atlas of the glioma by inverting the estimated deformation fields to warp the tumor segmentations of patients scans into a common space.

Carotid-cavernous fistulas are abnormal arteriovenous communications either directly between the internal carotid artery and the cavernous sinus or between the dural branches of the internal and external carotid arteries. These fistulas predominantly present with ocular manifestations and they are treated mainly by endovascular techniques in most cases. A detailed review of the literature allowed us to make a complete analysis of the information available on the topic. We describe a case of a direct carotid-cavernous fistula occluded by endovascular implantation of a covered stent, showing the persistence of results after three years.