An Autopsy Case of Respiratory Failure Induced by Repetitive Cervical Spinal Cord Damage due to Abnormal Movement of the Neck in Athetoid Cerebral Palsy.

We herein report the clinical and autopsy findings of a 48-year-old right-handed man with athetoid cerebral palsy who suffered from cervical myelopathy due to abnormal neck movement, and who died of respiratory failure. Pathologically, the external appearance of the ventral surface of the cervical spinal cord revealed a linear indentation running obliquely at the level between the C4 and C5 segments. In the most severely compressed lesion, the gray matter was predominantly affected and severely atrophic. Microscopically, clusters of oligodendrocytes associated with thinly myelinated axons were also observed in the lateral funiculus. The latter findings are unique, and could be interpreted as regenerative and/or restorative phenomena of the central nervous system following chronic repetitive spinal cord compression.

Development of primary central nervous system lymphoma associated with human immunodeficiency virus and JC virus infection.

We report here a case of a 37-year-old man with human immunodeficiency virus (HIV) infection followed by JC virus (JCV) infection and primary central nervous system lymphoma (PCNSL). The patient had been infected with HIV type 1 due to blood products for hemophilia A during infancy. He had progression of nervous symptoms and was diagnosed with progressive multifocal leukoencephalopathy (PML) clinically at the age of 36, when his CD4-positive lymphocyte counts ranged between 350 and 450/µl. Oral mefloquine, intravenous methylprednisolone pulse therapy, and intravenous immunoglobulin were not effective for the PML, and the patient entered a vegetative state. Brain biopsy revealed JCV infection without pathological findings of PML. Eight months after the clinical diagnosis of PML, he developed respiratory failure and brain magnetic resonance imaging revealed a mass lesion in the brain stem. The patient died 19 months after the diagnosis of PML. Autopsy findings were compatible with PCNSL. EBV-encoded small RNA-1-positive cells were not detected. We present a case of JCV-positive PCNSL with HIV infection complicated with clinical PML.

Meningeal inflammation and demyelination in a patient clinically diagnosed with acute disseminated encephalomyelitis.

Acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS) are both CNS inflammatory demyelinating diseases with overlapping clinical features. A case is reported of a 51-year-old female who presented with headache, progressive aphasia and hemiparesis without preceding infection or vaccination. Brain MRI revealed multiple, often confluent, subcortical white matter lesions without enhancement, affecting predominantly the left cerebral hemisphere. CSF examination failed to reveal oligoclonal bands. Brain biopsy revealed both pathological features of ADEM and findings are consistent with the early stage of MS, including meningeal B and T lymphocytic infiltration, perivenular demyelination, subpial demyelination and discrete confluent plaque-like foci of demyelination. Steroid treatment resulted in remarkable clinical and radiological improvement and there has been no recurrence in six years of follow-up. This case highlights the difficulties in differentiating between ADEM and the first attack of MS and further suggests that ADEM and the early stage of MS, and its tumefactive variant, may have a common underlying pathologic mechanism, which may have a therapeutic implication in treating these diseases.

α-Synuclein coaggregation in familial amyotrophic lateral sclerosis with SOD1 gene mutation.

Immunohistochemical studies were performed on postmortem brain and spinal cord from a patient with familial amyotrophic lateral sclerosis characterized by a C111Y mutation in the Cu/Zn superoxide dismutase gene. Clinically, the patient presented with classical amyotrophic lateral sclerosis and died of respiratory failure at age 53 years without ventilator dependence, 4 years after the onset. Pathologically, loss of motor neurons was more extensive than upper motor neurons. Lower motor neurons developed massive intracellular cytoplasmic neuronal inclusions, which were immunoreactive for Cu/Zn superoxide dismutase and phosphorylated α-synuclein, often colocalized. The inclusions were TAR DNA-binding protein 43 negative. The clinicopathologic significance of coaggregation of α-synuclein and Cu/Zn superoxide dismutase protein, a novel finding in neurodegenerative disorders, needs further investigation.

[Deep vein thrombosis caused by pelvic lymphocyst following radical prostatectomy: a case report].

A 66-year-old man was admitted with distal edema of his right leg. He had undergone radical prostatectomy and pelvic lymphadenectomy for prostatic cancer 23 days previously. Abdominal computed tomography (CT) showed a lymphocyst (4.5 x 3.0 cm) along the right pelvic wall compressing the right external iliac vein. CT with contrast medium showed thrombus formation (about 9 cm) in the distal portion of the right external iliac vein and femoral vein. An inferior vena cava filter was placed to prevent pulmonary embolism, and anticoagulation with warfarin was started. One week later, CT showed shrinkage of the lymphocyst and thrombus in the vein, as well as a large thrombus trapped in the filter. Follow-up CT taken 2 months later revealed marked reduction of the lymphocyst and absence of thrombus in both the vein and filter. A lymphocyst, also known as a lymphocele, is a complication of radical pelvic surgery. Most lymphocysts are asymptomatic and regress spontaneously, but may lead to deep vein thrombosis and pulmonary embolism, usually a few weeks after surgery. Careful observation is needed even after discharge from hospital.

Massive mesenteric edema in a patient with type I hereditary angioedema.

We report a patient with hereditary angioedema (HAE) presenting with skin edema and abdominal pain. Laboratory examination showed reduced levels of CH50, C2, C4, and C1 inhibitor (C1-INH). Abdominal computed tomography (CT) showed marked mesenteric edema and wall thickening of the duodenum and transverse colon. Acute abdominal pain is common in HAE and is difficult to distinguish from surgical emergency. Massive mesenteric edema on CT is a rare, but specific, sign suggesting HAE.

A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema.

We describe a patient with type I hereditary angioedema presenting recurrent episodes of skin swelling and abdominal pain. Laboratory examination showed reduced levels of CH50 and C4 with a normal C3 level. The C1 inhibitor was decreased to 7.0 mg/dl (normal, 10-25 mg/dl) with a remarkably reduced activity (<25%; normal, 80-125%). DNA analysis of the C1 inhibitor gene revealed a novel point mutation at the 3' acceptor mRNA splice site of the intron 5 (G-->A at nucleotide 8722). This mutation may abolish the correct splicing of the intron 5 and create unstable mRNA.