Early progression of brain atrophy in patients with anti-N-methyl-D-aspartate receptor encephalitis: Case reports.

BACKGROUND: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis responds to immunnotherapy, and approximately 80% of patients with this disorder fully recover or have only minor sequelae. Brain magnetic resonance imaging (MRI) does not show a specific abnormality, but some patients have progressive cerebral atrophy. The cerebral atrophy can become reversible after clinical improvement. METHODS: We describe 3 patients with diffuse cerebral atrophy (DCA) on serial brain MRI. RESULTS: Two women had the typical spectrum of this disorder, and one man had mainly psychiatric symptoms. In a woman with an ovarian tumor, DCA was reversible and DCA developed within about a half month. In another woman without a tumor, DCA was evident within 19 days and had progressed over the course of 4 years. The titers of anti-NMDAR antibodies in serum and cerebrospinal fluid (CSF) initially decreased, and low titers of the antibodies persisted. In a man without a tumor, DCA progressed within 14 days, and during this short period, he did not receive prolonged treatment with corticosteroids, various antiepileptic agents, or propofol, and he was free of seizures and ventilatory support. CONCLUSION: Not only a woman but also a man with anti-NMDAR encephalitis can have DCA in the early phase of this disorder. However, DCA can be reversible after clinical improvements. The early progression of DCA is not necessarily a poor prognostic factor.

Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1.

The objective of our study was to evaluate the relation between muscle MRI findings and upper limb weakness with grip myotonia in patients with myotonic dystrophy type 1 (DM1). Seventeen patients with DM1 were evaluated by manual muscle strength testing and muscle MRI of the upper limbs. Many DM1 patients presenting with decreased grasping power frequently showed high intensity signals in the flexor digitorum profundus (FDP) muscles on T1-weighted imaging. Patients presenting with upper limb weakness frequently also showed high intensity signals in the flexor pollicis longus, abductor pollicis longus, and extensor pollicis muscles. Disturbances of the distal muscles of the upper limbs were predominant in all DM1 patients. Some DM1 patients with a prolonged disease duration showed involvement of not only distal muscles but also proximal muscles in the upper limbs. Muscle involvement of the upper limbs on MRI strongly correlated positively with the disease duration or the numbers of CTG repeats. To our knowledge, this is the first study to provide a detailed description of the distribution and severity of affected muscles of the upper limbs on MRI in patients with DM1. We conclude that muscle MRI findings are very useful for identifying affected muscles and predicting the risk of muscle weakness in the upper limbs of DM1 patients.

Characterization of dermatomyositis with coexistence of anti-Jo-1 and anti-SRP antibodies.

We describe a patient with dermatomyositis who presented with rapidly developing severe muscle weakness complicated by massive pleural effusion with interstitial lung disease. Myopathological analysis was suggestive of dermatomyositis. This patient showed both anti-Jo-1 and anti-SRP antibodies in serum. To our knowledge, the coexistence of these two myositis-specific autoantibodies (MSA) is considered extremely rare and is clearly an exception to the rule of having only one MSA. Our findings provide compelling evidence that the coexistence of these two MSAs may lead to more severe clinical symptoms, interacting in a complex fashion, thus expanding the clinical spectrum of idiopathic inflammatory myopathy.

Painful abdominal contractions in patients with Parkinson disease.

We hypothesized that the unusual and painful abdominal contractions in two of our patients with Parkinson disease (PD) were linked to abdominal muscle hypertrophy. The abdominal pain was aggravated by sitting, standing, or walking, and was characterized by a powerful pulling sensation associated with palpable contractions of the rectus abdominis. When the pain decreased, the camptocormia abated. The thickness of the rectus abdominis and the relative muscle thickness ratio were greater in the two patients with abdominal contractions than in the control patients with PD without abdominal contractions. Palpable painful abdominal contractions could be associated with the presence of hypertrophy of the rectus abdominis visible on CT scan. The abdominal muscle contractions probably contribute to the development a stooped posture.

Benzodiazepine receptor imaging in an adult with Rasmussen's encephalitis and epilepsia partialis continua.

We describe an adult with Rasmussen's encephalitis associated with widespread decreased accumulation of tracer on 123-I iomazenil (IMZ) SPECT. The patient had a form of epilepsia partialis continua and neurological deterioration associated with hemiatrophy. Cranial MRI showed cerebral atrophy in the left frontal, parietal, and temporal lobes, without abnormal intensity. Delayed IMZ SPECT showed widespread decreased accumulation of tracer in the left temporal and frontal regions. An early scan showed mildly decreased accumulation in the left temporal and frontal regions. Three-dimensional stereotactic surface projection (3D-SSP) analysis showed that the decreased regions on delayed IMZ images were slightly larger as compared with the previous IMZ study performed. Some regions without decreased accumulation of tracer on Tc-ECD or early IMZ images showed decreased accumulation on delayed IMZ images. This case study suggests that benzodiazepine receptors may be reduced in the affected hemisphere of patients with Rasmussen's encephalitis.

Characteristic neuroimaging in patients with tumefactive demyelinating lesions exceeding 30 mm.

BACKGROUND AND PURPOSE: Features of tumefactive demyelinating lesion (TDL) on magnetic resonance imaging (MRI) can facilitate the differential diagnosis of TDL and neoplastic lesions, but vary considerably among patients. The larger TDL grows, the more difficult it becomes to differentiate TDL from neoplastic lesions. The purpose of this study was to elucidate typical MRI features in 12 patients with large TDL (>30 mm in diameter). METHODS: We identified 12 patients with large TDL (six men, six women; age range 17-64 years, median age 27 years) and studied the clinical histories and the results of laboratory and various radiological studies in these patients. All cases of clinically definite multiple sclerosis were diagnosed in accordance with McDonald's revised criteria. RESULTS: Common MRI features of large TDLs included variable degrees of mass effect (71%) and edema (100%), a T2 hypointense rim (79%), venular enhancement (57%), and peripheral restriction on diffusion-weighted images (50%). Ring enhancement (38%), open-ring enhancement (31%), or decreased N-acetylaspartate ratios on magnetic resonance spectroscopy (22%) were less frequently observed. Brain angiography demonstrated venous dilatations on and around the TDL. CONCLUSIONS: The diagnosis of large TDL is challenging. Our findings suggest that multiple venous dilatations on and around TDLs on angiography can facilitate diagnosis.

A successfully treated case of herpes simplex encephalitis complicated by subarachnoid bleeding: a case report.

INTRODUCTION: Histopathologically, herpes simplex virus type 1 causes hemorrhagic necrosis. Overt hemorrhage is infrequent in herpes simplex virus encephalitis but can lead to poor outcomes. This report describes a successfully treated case of herpes simplex virus encephalitis associated with subarachnoid bleeding in which real-time polymerase chain reaction was useful for diagnosis. CASE PRESENTATION: A 30-year-old previously healthy Japanese woman who had fever and headache for five days presented with disorganised speech, unusual behavior and delusional thinking. Real-time polymerase chain reaction amplification of herpes simplex virus type 1 in cerebrospinal fluid was positive (38,000 copies/mL) and antivirus treatment was started. During the course of her illness, the level of her consciousness decreased in association with desaturation and tachycardia. Thrombosis of the right pulmonary artery trunk with pulmonary embolism was evident on enhanced chest computed tomography. In addition, cranial computed tomography revealed subarachnoid and intraventricular bleeding. Intravenous heparin (12,000 U/day) was started and the dose was adjusted according to the activated partial thromboplastin time for about a month (maximum dose of heparin, 20,400 U/day). After the treatments, her Glasgow coma score increased and the thrombosis of the pulmonary artery trunk had disappeared. CONCLUSIONS: The present case raises the question of whether anticoagulant treatment is safe in patients with herpes simplex virus encephalitis complicated by subarachnoid bleeding.

Treatable fluctuating mental impairment in a patient with Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by rod-cone dystrophy, polydactyly, central obesity, mental retardation, and hypogonadism. Although many organs are involved in BBS, hyperammonemia caused by portal hypertension has been reported previously in only a single patient. We describe the second such patient with BBS and hyperammonemia, associated with fluctuating mental impairment. The patient was a 17-year-old boy with BBS. Esophageal, gastric, and rectal varices and mild hepatic dysfunction started to develop at 5 years of age. A liver biopsy showed dilated portal veins with mild fibrosis in portal tract. From the age of 17 years, he often had forced laughter with apparently normal consciousness. Laboratory examinations revealed hyperammonemia (112.2mg/ml). Oral medication lowered the blood ammonia level to 69.9 mg/ml, reduced the frequency of forced laughter, and improved his IQ. Patients with BBS may have additional diseases or conditions that affect mental status, such as hyperammonemia. Physicians should explore the underlying causes of these conditions and treat such patients, who already have a compromised quality of life.

Asymmetrical weakness associated with central nervous system involvement in a patient with guillain-barrè syndrome.

Guillain-Barrè syndrome (GBS) is usually associated with symmetrical weakness, and therefore asymmetrical weakness may confuse diagnosis. We report on a patient with GBS subsequent to Campylobacter jejuni enteritis who had asymmetrical weakness with CNS involvement. The patient tested positive for anti-ganglioside antibodies, including anti-GM1 IgM, anti-GD1b IgG, and anti-GT1a IgG. Patients with GBS can manifest asymmetrical signs and symptoms attributable to CNS involvement. Prompt, accurate diagnosis and treatment of post-C. jejuni GBS is especially important because its prognosis is relatively poor.

Detection of neoplastic meningitis in a patient with gastric cancer by thallium-201 SPECT.

We describe the usefulness of thallium-201 SPECT in a patient with neoplastic meningitis (NM) from gastric carcinoma. Thallium-201 SPECT is of value for the diagnosis of cancer; retention of thallium-201 on delayed images strongly suggests malignancy. NM is a lethal, major neurologic complication of cancer. The standard for the diagnosis of NM is cytologic confirmation of malignant cells in CSF, but cytologic results are often negative (estimated false negative rate, 50%), even when NM is strongly suspected clinically. In patients with equivocal findings, our findings suggest that thallium-201 SPECT is one helpful tool for the detection of NM, particularly when associated with signet-ring cell carcinoma.

Signal changes of superior cerebellar peduncle on fluid-attenuated inversion recovery in progressive supranuclear palsy.

Pathological changes of the superior cerebellar peduncle (SCP) can occur in PSP. We assessed the clinical history and signal changes in the SCP on fluid-attenuated inversion recovery (FLAIR) images of 12 patients with clinically probable PSP. Three control groups were studied: Parkinson's disease (PD), multiple system atrophy with predominant parkinsonian features (MSA-P), and healthy controls. Three patients who had clinically probable PSP showed increased FLAIR signals within the SCP. No subject with PD or MSA-P showed any signal changes of the SCP. The signal changes in the SCP on FLAIR may be one indicator for differentiating PSP from other parkinsonian diseases.

Atlantoaxial rotatory subluxation associated with cervical dystonia.

STUDY DESIGN: Case report. OBJECTIVE: To document an interesting case of cervical dystonia associated with atlantoaxial rotatory subluxation and compressive myelopathy. SUMMARY OF BACKGROUND DATA: Dystonia is an involuntary disorder characterized by twisting, pulling, and sustained contractions, which may be extremely powerful and painful. Cervical dystonia can contribute to the development of cervical spondylosis. However, cervical dystonia with atlantoaxial rotatory subluxation is very rare. Only 2 cases of primary dystonia with atlantoaxial subluxation have been reported previously. METHODS: We present the case of a 53-year-old man who had dystonic movements involving the neck. The head tilted to the left and rotated to the right. The subluxation was reduced by a sensory trick. Involuntary movements of the neck worsened. After 2 years, neck pain and difficulty in walking developed. RESULT: Cervical MRI showed atlantoaxial subluxation with compression of the spinal cord at C1-C2. Computed axial tomography of the cervical spine demonstrated rotatory subluxation of the atlas on the axis. Surgical intervention combined with globus pallidus internus-deep-brain stimulation and atlantoaxial fixation successfully controlled the cervical dystonia and atlantoaxial rotatory subluxation. CONCLUSION: Although this case is extremely rare, clinicians should be keep in mind that cervical dystonia may carry a risk of atlantoaxial subluxation, potentially progressing to myelopathy. Neurosurgery combined with globus pallidus internus-deep-brain stimulation and atlantoaxial fixation is one treatment option for cervical dystonia with atlantoaxial rotatory subluxation.

Clinical analysis of paraneoplastic encephalitis associated with ovarian teratoma.

BACKGROUND: Recently, paraneoplastic encephalitis associated with ovarian teratoma has been described and related to an autoantibody. METHODS: We describe four patients with ovarian teratoma-associated encephalitis (OTE) and compared their clinical pictures with those of 17 previously reported patients with OTE. RESULTS: Clinically, OTE was characterized by the development of acute prominent psychiatric symptoms (20 of 21 patients), seizures (15 of 21 patients), and central hypoventilation (13 of 21 patients). Our patients had hypersalivation (three patients) and cardiac conduction problems (all patients); hypothermia was present in one patient. The mean time from the onset of OTE to tumor diagnosis was 19.6+/-22.1 weeks. Ventilatory support was required for 54.9+/-25.4 days on average. The white blood cell count in cerebrospinal fluid was 55.1+/-61.2/mm3. Twelve patients showed abnormalities on cranial MRI, involving areas such as the temporal regions (seven patients) or brainstem (four patients). In addition to tumor resection, 17 patients received some type of immunotherapy: 17 patients received corticosteroids, 10 received intravenous immunoglobulins, two received cyclophosphamide, seven received plasma exchange. Eighteen patients with OTE had neurological improvement, including 11 with full recovery. CONCLUSIONS: OTE presents with cardiac conduction problems and hypersalivation in addition to psychiatric symptoms, seizures, and central hypoventilation.