Yasuyo Tonomura

Characteristic Neuroimaging in Patients with Tumefactive Demyelinating Lesions Exceeding 30 mm

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).

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.

Coexistence of Ramsay Hunt syndrome and varicella-zoster virus encephalitis.

We describe a patient with Ramsay Hunt syndrome and varicella-zoster virus encephalitis. The coexistence of these conditions is rare and to our knowledge has not been clearly documented in the English-language literature. We summarize the clinical characteristics of our patient and seven similar patients described in previous reports, including those published in Japanese. Although concomitant diseases such as diabetes and chronic renal failure may lead to an aggressive course, all patients described in detail have had good outcomes.

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.

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.

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

IntroductionHistopathologically, 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 presentationA 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.ConclusionsThe present case raises the question of whether anticoagulant treatment is safe in patients with herpes simplex virus encephalitis complicated by subarachnoid bleeding.

A family with Campylobacter enteritis: Anti-GD1a antibody with/without Guillain–Barré syndrome

Guillain–Barre syndrome (GBS) is characterized by acute, motor-predominant neuropathy frequently preceded by infection. Campylobacter jejuni enteritis is involved in about one-third of patients.1 Molecular mimicry between C. jejuni and gangliosides can lead to the production of serum anti-ganglioside antibodies, which may cause neuropathies. A literature search revealed only one report describing a family with C. jejuni enteritis, in which GBS developed in one of three affected members. That report implicated anti-ganglioside antibody as the cause of GBS.2 We now describe a second such family in which additional factors as well as anti-ganglioside antibodies may have contributed to the GBS onset. Two brothers, 16 and 19 years old, had diarrhea of 3-days’ duration. A week after the onset, the younger brother had severe tetraparesis. Neurologic and electrophysiologic findings were consistent with a diagnosis of axonal GBS. Blood specimens were obtained from the two brothers on the fourth day after the GBS onset. The brothers were sero-positive for anti– C. jejuni …

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.

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.