Bladder paraganglioma: CT and MR imaging characteristics in 16 patients

Background Bladder paraganglioma (BPG) is a rare extra-adrenal pheochromocytoma with variable symptoms and easy to be misdiagnosed and mishandled. The aim of the study was to document the imaging features of BPG using computed tomography (CT) and magnetic resonance imaging (MRI). Patients and methods We retrospectively enrolled consecutive patients with pathology-proven BPG, who underwent CT or MRI examinations before surgery between October 2009 and October 2017. The clinical characteristics, CT, and MRI features of the patients were described and analysed. Results A total of 16 patients with 16 bladder tumours (median age 51 years, 9 females) were included. Among them, 13 patients underwent CT examinations and eight patients underwent MRI examinations preoperatively. Tumour diameters ranged from 1.6−5.4 cm. Most of the tumours grew into the bladder cavity (n = 11) with oval shapes (n = 10) and well-defined margins (n = 14). Intratumour cystic degeneration or necrosis (n = 2) was observed. Two lesions showed peripheral tissue invasion, suggesting malignant BPGs. All 13 lesions imaged with CT exhibited slight hypoattenuation and moderate to marked enhancement. Compared to the gluteus maximus, all lesions showed slight h yperintensity in T2-weighted images, hyperintensity on diffusion-weighted images (DWI), hypointensity on apparent diffusion coefficient maps, hyperintensity on T1-weighted images and a “fast in and slow out” enhanced pattern on contrast-enhanced MRI images. Conclusions BPGs are mostly oval-shaped, broadly-based and hypervascular bladder tumours with hypoattenuation on non-contrast CT, T2 hyperintensity, slight T1 hyperintensity compared to the muscle, marked restricted diffusion on DWI. Peripheral tissue invasion can suggest malignancy of the BPGs. All of these features contribute to preoperative decision-making.

Diffuse Necrotizing Myelitis following Intracystic Bleomycin Chemotherapy for Craniopharyngioma

A child with recurrent adamantinomatous craniopharyngioma was treated with surgery and radiosurgery followed by 12 cycles of intracystic bleomycin injections. One month after treatment, he developed progressive lower extremity paresthesia, pain, wide-based gait, and urinary incontinence. MR imaging showed extensive T2 hyperintensity, enlargement, and enhancement extending from the medulla to the lower thoracic spinal cord. Spinal cord biopsy showed necrotizing myelitis. To our knowledge, this is the first histologically proven case of bleomycin spinal cord neurotoxicity.

Imaging features of intrahepatic cholangiocarcinoma mimicking a liver abscess: an analysis of 8 cases

Background In rare cases, intrahepatic cholangiocarcinoma can present as a pyogenic liver abscess and are often misdiagnosed. This study aimed to analyze the imaging features of intrahepatic cholangiocarcinoma mimicking a pyogenic liver abscess. Methods The clinical data and imaging results of eight patients with pathologically confirmed intrahepatic cholangiocarcinoma mimicking a liver abscess were retrospectively collected. Results The mean age was 58 years with a range of 46–68 years. Fever and leukocytosis were present in six patients. All the eight lesions were a single mass. Air–liquid levels were present in two patients. Only one patient showed hepatic lobar atrophy and hepatic capsule retraction. The double target sign of liver abscess was not noticed in the CT/MRI images of all eight patients. The inner wall of the lesion was rough and irregular, with multiple dot/patchy and wall nodule enhancements. The abscess wall and the marginal parenchyma were supplied by the hepatic artery in four patients, and the intralesional arteries were rough and disrupted. Bile duct dilatation was seen adjacent to the lesion. In seven patients, diffusion-weighted images showed irregular patchy restricted diffusion in the marginal parenchyma of the necrotic area in addition to the prominent restricted diffusion in the necrotic area. Two patients with cholangiolithiasis showed patchy slight CT hypodensity, slight T1 hypointensity, slight T2 hyperintensity, and patchy delayed enhancement. Multiple lymph nodes enlargement in the hepatic hilar area and the retroperitoneal space were seen in five patients. Conclusion Intrahepatic cholangiocarcinoma mimicking a pyogenic liver abscess have unique imaging features and require careful image examination to avoid misdiagnosis.

Subacute Cognitive Decline in an 86-Year-Old Woman With Prior Lobar Intracerebral Hemorrhage

An 86-year-old woman with a history of hypertension, hyperlipidemia, coronary artery disease, and hypothyroidism sought care for subacute, progressive cognitive decline. Five months earlier, she was hospitalized for a small, left temporal, lobar, intracerebral hemorrhage with associated receptive aphasia. Over the next several months, she had a precipitous cognitive decline. She was prescribed memantine by her primary physician because of concern for dementia. One month before seeking care, she was found unconscious in her bathroom, which was believed to be an unwitnessed seizure. Brain magnetic resonance imaging 1 month before the current evaluation showed a prior, small, left temporal hemorrhage and diffuse lobar microhemorrhages on gradient echo imaging, focal leptomeningeal gadolinium enhancement in the left temporal lobe, and multifocal T2 hyperintensity with mass effect, maximal in the left temporal lobe. Electroencephalography showed multifocal, independent epileptiform discharges. She underwent open biopsy of the left temporal lobe, which indicated focal granulomatous inflammation causing vascular destruction, with β‎-amyloid plaques within the cortical and leptomeningeal vessels. The findings were consistent with a diagnosis of amyloid-β‎-related angiitis in the setting of severe cerebral amyloid angiopathy. Because of concern for subclinical seizures and epileptiform discharges on electroencephalography, the patient was started on levetiracetam without substantial change in her mental status. After the biopsy findings demonstrated inflammatory changes consistent with amyloid-β‎-related angiitis, she was started on intravenous methylprednisolone, followed by transition to prednisone. After 6 months of treatment, she had significant clinical and radiographic improvement. Follow-up magnetic resonance imaging at that time showed interval improvement in the T2 hyperintensity and mass effect in the left temporal lobe. She was again independent with her activities of daily living, and memantine was discontinued. Cerebral amyloid angiopathy encompasses a heterogeneous group of diseases characterized by amyloid-β‎ peptide deposition. The most common clinical manifestation of cerebral amyloid angiopathy is lobar intracerebral hemorrhage, which can be multifocal and recurrent but can also result in cerebral ischemia and ischemic leukoencephalopathy.

A Woman With Subacute Numbness of the Trunk, Arms, and Legs

A 39-year-old woman had development of new-onset numbness in her left arm. This progressed over 2 to 3 weeks to involve the left axilla, trunk, lower extremities, and genital region. She had mild imbalance and left-sided weakness but remained ambulating without a gait aid. Repeated magnetic resonance imaging of the cervical spine showed the longitudinally extensive T2 lesion in a central location on axial sequences, with linear, dorsal, subpial gadolinium enhancement extending more than 2 vertebral segments. The magnetic resonance image findings were most suggestive of spinal cord neurosarcoidosis. Computed tomography of the chest showed bilateral hilar adenopathy. Serum levels of angiotensin-converting enzyme were normal. Transbronchial lung biopsy showed noncaseating granulomas. Noncaseating granulomas were confirmatory of pulmonary sarcoidosis, which led to a diagnosis of spinal cord neurosarcoidosis. Treatment with intravenous methylprednisolone for 5 days was repeated, followed by oral prednisone for 2 months. Her neurologic symptoms improved, and repeated magnetic resonance image showed a marked decrease in T2 hyperintensity and gadolinium enhancement consistent with interval response to treatment. A slow prednisone taper over 9 months was initiated. Spinal cord neurosarcoidosis often presents with an isolated myelopathy without symptoms of pulmonary sarcoidosis (eg, cough, dyspnea). The presentation can range from a subacute onset mimicking transverse myelitis (as in this case patient) to a more insidious progressive myelopathy over months to years.

P.123 Severe DNM1 Encephalopathy with Dysmyelination due to Recurrent Splice Site Pathogenic Variant

Background: Patients with DNM1-encephalopathy almost exclusively have missense variants, mostly in the GTPase domain of DNM1. Delayed myelination has been reported in at least three patients with DNM1-encephalopathy, all with missense mutations in the DNM1 central domain. Only one DNM1 splice-site variant has previously been reported, and the authors questioned whether the variant accounted for all aspects of the patient’s phenotype. Methods: Case-Report. Results: Our patient had hypotonia and brief multifocal tonic seizures from age-1-month. He still has profound global developmental delay, daily seizures and microcephaly. MRI-Brain at age-21-months showed T2 hyperintensity in the bilateral periventricular and subcortical white matter; spectroscopy showed a questionable lactate peak and an elevated choline peak relative to N-acetylaspartate. Clinical gene-panel identified a heterozygous de novo pathogenic variant in intron 9 of DNM1 (c.1197-8G > A; IVS9- 8G>A). In-silico tools categorized this variant as deleterious secondary to a splicing defect. RT-PCR analysis on peripheral blood was unsuccessful as DNM1 expression is extremely low outside of the brain. Conclusions: Our patient carried the same DNM1 variant previously reported, indicating this is a recurrent pathogenic splice-site variant. The spectroscopic abnormalities suggest a possible element of demyelination in DNM1 variants of the central domain, though the mechanism remains unclear.

Seizures and Enhancing Brain Lesions

A 51-year-old man sought care for a 4-month history of generalized seizures. The description of his seizures was consistent with generalized tonic-clonic seizures with focal onset. The patient had no history of head trauma or central nervous system infection and no family history of seizures. The patient reported having visual disturbances for 2 years before the seizures. His medical and surgical history was unremarkable. Brain magnetic resonance imaging showed left temporo-occipital, white matter, T2-signal intensity with gadolinium-enhancing lesions. Brain magnetic resonance imaging showed patchy gadolinium enhancement with T2 hyperintensity in the left parietotemporal and occipital lobes. Brain biopsy of the left temporal lobe showed white matter lesions with necrosis and chronic infiltration with macrophages and CD3-positive T lymphocytes and a predominant perivascular distribution. Focal, secondary vasculitis was present. There was no evidence of lymphoma. A repeated brain biopsy of the parietal lobe after another inflammatory relapse showed pathologic findings identical to the first biopsy. The patient was diagnosed with inflammatory encephalitis without additional defining features on biopsy. The patient received levetiracetam for seizure control, but the seizures remained refractory. He then was treated with high doses of intravenous methylprednisolone and then oral prednisone. Simultaneously, mycophenolate mofetil was initiated. The patient was monitored every 3 months with complete blood cell counts and liver function tests. Three months later, the prednisone dose was slowly tapered. During that process, the patient had no new seizures, and brain magnetic resonance imaging showed no active inflammation. After discontinuation of corticosteroids, the patient had a relapse with a generalized seizure, and brain magnetic resonance imaging showed new gadolinium-enhancing lesions. Prednisone was resumed, with near-remission. He then reinitiated mycophenolate mofetil and continued levetiracetam. With this regimen he remained clinically and radiologically stable, with only occasional visual phenomena that were possibly epileptic, although follow-up electroencephalography when he was symptomatic was normal. Encephalitis of unknown origin represents approximately one-third of cases. This proportion is decreasing over time with the development of novel diagnostic technologies, such as sequencing techniques to identify causative infectious agents and advances in neural autoantibody diagnostics.

New-Onset Gait Difficulty With Kappa Free Light Chains in Cerebrospinal Fluid

A 49-year-old woman sought care for a 9-month history of gait difficulty. She was dragging her right foot when walking and could not walk more than 3 blocks because of right leg weakness. Physical examination showed right-sided weakness of hip flexion and foot dorsiflexion and symmetrical hyperreflexia at the knees and ankles. Magnetic resonance imaging of the brain showed multiple foci of T2 hyperintensity throughout the white matter in both cerebral and cerebellar hemispheres, predominantly in a periventricular distribution. Several small enhancing lesions and mild generalized cerebral volume loss were seen. The appearance and distribution were consistent with a demyelinating process such as multiple sclerosis. Magnetic resonance imaging of the cervical and thoracic spine showed multiple small T2 hyperintensities, including 1 enhancing lesion in the cervical spinal cord. Oligoclonal bands were positive, with 11 unique bands in the cerebrospinal fluid. The concentration of cerebrospinal fluid kappa free light chains was increased, at 0.314 mg/dL. The patient was diagnosed with relapsing-remitting multiple sclerosis. A 5-day course of intravenous corticosteroids was started, after which she noted clinical improvement. At her last follow-up 2 years after initial evaluation, the patient has been stable with no new clinical multiple sclerosis episodes and stable magnetic resonance imaging disease burden with no new lesions. The diagnosis of multiple sclerosis incorporates clinical, imaging, and laboratory evidence. The 2017 revised McDonald criteria state that a finding of cerebrospinal fluid -specific oligoclonal bands can replace the criterion for dissemination in time to make a diagnosis of definitive multiple sclerosis. The standard test for oligoclonal bands is performed using isoelectric focusing electrophoresis and takes more than 3 hours to complete. The case patient had 11 unique cerebrospinal fluid bands. The number of bands is not correlated with disease severity or prognosis.

Progressive Left Lower Extremity Weakness and Thoracic Spinal Cord Lesion

A 76-year-old man was seen for a neurologic evaluation with concerns of progressive left lower extremity weakness. He had 2 lumbar spinal operations, the most recent being at age 68 years, and had a major motor vehicle accident with a pelvic fracture at age 67 years. He was documented to have new impairment in right ankle and distal lower extremity power after the operations and trauma. He began using a left-sided ankle-foot orthosis but used no other gait aid. Brain magnetic resonance imaging revealed 2 prominent and stable T2-signal hyperintensities in the frontal cerebral white matter, with some periventricular T2 hyperintensity with associated T1 hypointensity, and no gadolinium-enhancing lesions or posterior fossa lesions. Sagittal and axial magnetic resonance imaging of the thoracic spine showed an area of T2-signal abnormality without enhancement in the left hemicord at the T3 to T4 level. Nerve conduction studies and electromyography revealed a chronic right L5 radiculopathy without evidence of active denervation as the cause of the right lower motor neuron lower extremity weakness. He was diagnosed with progressive paucisclerotic multiple sclerosis with a primary progressive disease course. The use of ocrelizumab (anti-CD20) was considered initially. However, the exceedingly slow disease progression over many decades and the lack of new magnetic resonance imaging lesions or gadolinium-enhancing lesions, as well as his age, were taken into consideration, and conservative rehabilitation management was recommended instead. It is being increasingly recognized that the location of demyelinating disease lesions may be of crucial importance in the development of motor progression in multiple sclerosis. These critical demyelinating lesions are observed in patients with progressive unilateral hemiparetic impairment due to multiple sclerosis, in which unlimited lesion burden is allowable.