Cerebellar mutism with subsequent dysarthria in an adult: case report

AIM: To establish whether infection with Epstein-Barr virus (EBV) contributed to the development of coronary artery lesions in a six year old child with an aneurysm and stenoses of the coronary arteries and suspected Kawasaki disease. METHODS: Postmortem paraffin wax sections of the coronary artery and myocardium were examined by in situ hybridisation for expression of EBER-1 (EBV-encoded RNA-1). Positive controls consisted of an EBV positive case of Hodgkin disease and a case of posttransplantation lymphoma. RESULTS: No EBER-1 positive cells were identified in either myocardium or walls of the coronary artery. CONCLUSIONS: Although EBV has been implicated in the aetiology of Kawasaki disease and development of coronary artery lesions, this process was not confirmed in this patient. It is likely that an unusual immunological reaction to a primary EBV infection with suspected deregulation of T helper cell activity leads to severe coronary artery damage in early childhood.     

Anaesthetic management of an adult patient with X-linked adrenoleukodystrophy

PURPOSE: Adrenoleukodystrophy (ALD) is a rare genetic disorder. Findings include various central nervous system problems in addition to adrenal insufficiency. We present a case of an adult man with X-linked ALD undergoing surgery. CLINICAL FEATURES: A 40-yr-old man with X-linked ALD presented with an intertrochanteric femoral fracture. Past medical history included recurrent lung atelectasis, urinary incontinence, mental retardation, seizure disorder, and adrenal insufficiency. No sedative pre-medications were ordered, but perioperative steroid coverage with 100 mg hydrocortisone was initiated. In the operating room, the patient would not allow placement of all monitors. Therefore, 1 mg midazolam then 275 mg thiopentone followed immediately by 40 mg rocuronium were used to induce anesthesia with the application of cricoid pressure and the remaining monitors. Fentanyl 50 micrograms i.v. was given soon after induction, and anaesthesia was maintained with nitrous oxide and isoflurane. No further muscle relaxant or opioid was administered and anaesthesia was uneventful. The trachea was extubated with the patient awake and he was taken to the recovery area in stable condition. CONCLUSION: Patients with X-linked ALD are rarely seen in a clinical setting because the condition is so uncommon. Adrenal insufficiency, mental retardation, and osteoporosis are major considerations for these patients. In addition, these patients are at risk for reflux, seizures, and major post-operative complications.     

An autopsy case of adult onset glycogen storage disease type Ia

A 3-week tour of the Far East was coordinated by Dr. Ronald DeWald, senior travelling fellow appointed by the Scoliosis Research Society. Three junior fellows appointed by the Education Committee of the Scoliosis Research Society accompanied him. The purpose of this fellowship was to develop a comaraderie and exchange ideas, thoughts, and experiences in the field of spinal deformity.     

A case of sporadic acute type A hepatitis associated with acute renal failure

We report a case of sporadic acute type A hepatitis associated with acute renal failure, due to mesangioproliferative glomerulonephritis and interstitial nephritis. A 42 year-old-man was admitted to Mitsui Memorial Hospital because of jaundice and oliguria with fever in February, 1989. His serum creatinine was 12.2 mg/dl, BUN 87 mg/dl, GOT 57 U/l and GPT 358 U/l. The serum IgM antibody to hepatitis A virus was positive, which indicated recent infection with hepatitis A virus. Hemodialysis and steroidal therapy were started, and the patient's acute renal failure and liver dysfunction ameliorated within one month. Light microscopic examinations showed an increased number of mesangial cells and an increased amount of mesangial matrix, and also showed inflammatory cell invasion in the interstitium. Electron microscopic examinations showed proliferation of mesangial cells and matrix, and a dense deposit along the basement membrane. On immunofluoresent studies, fine granular deposits of IgA and Clq were observed in the mesangium.     

99mTc-HMPAO brain SPECT imaging in a case of repeated syncopal episodes associated with smoking

BACKGROUND: We report here a rare case of repeated syncopal episodes associated with smoking and findings of 99mTc-hexamethylpropyleneamine oxime (HMPAO) brain single-photon emission CT (SPECT) imaging. CASE DESCRIPTION: A 77-year-old man had four syncopal episodes during a half-month period. All four occurred when he stood up and walked immediately after smoking a cigarette, and syncope did not occur after cessation of smoking. Although upright testing revealed orthostatic hypotension, the patient did not complain of fainting on standing alone. Compared with brain SPECT in the supine position, perfusion was decreased in the posterior circulation structures after the subject smoked a cigarette or chewed nicotine gum. CONCLUSIONS: The combination of cerebral vasoconstriction due to smoking and orthostatic hypotension probably decreased cerebral blood flow in this patient, resulting in syncope.     

Diabetic papillopathy: two case reports in individuals with adult onset diabetes mellitus

BACKGROUND: Diabetic papillopathy is a benign unilateral or bilateral optic neuropathy with transient optic disk edema and minimal reduction in visual function. The optic disk edema typically resolves in a few months with no resulting optic atrophy and minimal or no decrease in acuity. The exact etiology of the disk edema is unknown, but theories include retinal vascular leakage into and surrounding the optic nerve and disruption of axoplasmic flow resulting from microvascular disease of the optic nerve head vasculature. CASE REPORTS: Two adult patients receiving insulin for type II diabetes mellitus manifested bilateral disk edema and minimal visual dysfunction. Both patients showed funduscopic evidence of mild-to-moderate nonproliferative diabetic retinopathy O.D. and O.S., and one patient had clinically significant macular edema in both eyes. The diagnosis in both cases was diabetic papillopathy. Both patients had significant resolution of their disk edema in 3 to 6 months, with stable acuities and no signs of optic atrophy. CONCLUSIONS: Although diabetic papillopathy is a well-known clinical entity in patients with type I diabetes, the clinical profile can be expanded to include individuals with type II diabetes.     

Variability in upper motor neurone-type dysarthria: an examination of five cases with dysarthria following cerebrovascular accident

The degree of diversity in the nature and extent of the physiological deficits which occur in subjects with dysarthria with similar neurological damage is demonstrated through the individual assessment profiles of five subjects with dysarthria following upper motor neurone (UMN) damage. The perceptual profiles of each subject were compiled using perceptual ratings of deviant speech parameters, intelligibility ratings from the Assessment of Intelligibility of Dysarthric Speech (ASSIDS), and perceptual judgements of subsystem function determined from the Frenchay Dysarthria Assessment (FDA). For each individual, the perceptual profile of their speech impairments was compared and contrasted with the objective results of spirometric and kinematic assessments of respiratory function aerodynamic and electroglottographic evaluations of laryngeal function, pressure and strain gauge evaluations of articulatory function, and nasal accelerometric assessments of nasality. The outcomes of the individual perceptual and physiological profiles are discussed with respect to the presence of differential subsystem impairments both within each subject and between subjects with similar underlying pathophysiological deficits. The importance of interpreting the instrumental findings with respect to the interdependency of each of the motor speech subsystems, the limitations of perceptual assessments, and the advantages of utilising both perceptual and physiological analyses in the process of identifying treatment goals is discussed.     

Disseminated intravascular coagulation in a case of adult onset Still's disease

We report a 82-year-old woman with adult onset Still's disease (AOSD), who presented with high fever, skin rash, swollen axillary lymph nodes, accelerated erythrocyte sedimentation rate, leukocytosis, abnormal liver function tests, hypoalbuminemia, negative antinuclear antibody and rheumatoid factor, and lack of renal involvement. Disseminated intravascular coagulation (DIC) was also diagnosed on admission. An antipyretic relieved high fever and DIC soon improved. Three years later, AOSD relapsed accompanied by hypercoagulation and hyperfibrinolysis. The patient developed subdural hematoma and DIC due to a brain contusion. High titers of serum soluble adhesion molecules and soluble thrombomodulin were noted on the first episode of DIC. These findings indicated that endothelial cells were damaged in AOSD complicated by DIC.     

A case of lumbosacral lipoma-associated adult onset tethered cord syndrome with initial symptoms of sensory disturbance and intractable foot ulcers]

A 63-year-woman who complained of sensorimotor disturbance of the lower extremities and urinary disturbance was presented. She noted loss of superficial sensation in both feet and foot ulcers at the age of 20 years. Her illness was initially diagnosed as hereditary sensory neuropathy type 1 (HSN1). The foot ulcers were so intractable that she had to have her right leg amputated at the age of 48 years. She had a severely impaired superficial sensation in the lower extremities and buttock, distal weakness of the left leg, and dysuria at the age of 60 years. The neurological examination revealed that she had segmental sensorimotor disturbance below the levels of the 5th lumbar segment. MRI demonstrated tethered cord with a lumbosacral lipoma. Adult onset tethered cord syndrome (TCS) that presents with HSN 1-like symptoms as initial clinical features has not yet been reported. Foot ulcers are often seen in child onset TCS in which the degree of tethered cord is severer than adult onset cases. It is reported that release of the tethered cord promotes healing of the foot ulcers. We recommend MRI for the study of the lumbosacral cord of patients with HSN 1-like symptoms, because there is a possibility that such patients may have TCS and early surgical treatment is effective for TCS.     

Late onset type of propionic acidaemia: case report and biochemical studies

A late-onset case of propionic acidaemia with favourable response to restriction of dietary protein is described. During a keto-acidotic crisis, this patient demonstrated unexpectedly low concentrations of propionic acid and glycine in blood and urine but increased urinary output of some secondary metabolites.     

Surgical treatment of acute type A aortic dissection with an intraluminal sutureless graft

The surgical treatment of acute type A aortic dissection remains a great challenge to all cardiac surgeons. From January 1991 to June 1993, 21 consecutive patients (13 men and eight women, aged 34 to 74 years) underwent emergency operations to repair acute type A aortic dissection, with the aid of hypothermic circulatory arrest. The intima tear was located in the ascending aorta in 13 patients, in the aortic arch in five patients, and in the descending aorta in three patients. The dissected ascending aorta was replaced with sutureless, intraluminal vascular grafts in all 21 patients. The intima tears in the aortic arch of five patients were primarily repaired. Modified Cabrol's shunts were created in seven patients for hemostasis, and Dacron grafts were used to wrap the ascending aorta in 18 patients. Retrograde cerebral perfusion during circulatory arrest was performed on 15 patients. The circulatory arrest time was 37 +/- 10 minutes (mean +/- SD). All patients survived the operation and regained consciousness in the early postoperative period without neurologic deficit. Post-treatment follow-ups (mean, 18.2 months) were completed in all patients except one, who died 12 months after the operation as a result of a traffic accident. All of the surviving patients are doing well without any further aortic operations. Our experience suggests that surgical repair of the acute type A aortic dissection can be a simple and safe procedure if sutureless intraluminal grafts are used and hypothermic circulatory arrest and retrograde cerebral perfusion are utilized.     

A case of pregnancy with adult T-cell leukemia

The incidence of adult T-cell leukemia (ATL) arising in women of childbearing age is documented infrequently. This report is the second in the world's literature of a case of ATL that occurred during pregnancy. A 43-year-old woman developed ATL during pregnancy and died of widespread disease 4 weeks after cesarean delivery.     

Triggering of acute myocardial infarction onset by episodes of anger. Determinants of Myocardial Infarction Onset Study Investigators

PURPOSE: We performed this study to identify prognostic factors in a subgroup of patients with carcinoma of unknown primary site treated with cisplatin combination chemotherapy. PATIENTS AND METHODS: Seventy-nine patients with poorly differentiated adenocarcinoma or undifferentiated carcinoma of unknown primary site were treated on two consecutive phase II chemotherapy protocols. The first protocol consisted of treatment with 3-week courses of cisplatin, etoposide, and bleomycin (BEP). In the second protocol, cisplatin was administered weekly combined with oral administration of etoposide (DDP/VP). To identify prognostic factors, univariate and multivariate analyses were conducted. RESULTS: In the univariate analysis, performance status, histology, liver or bone metastases, and serum levels of alkaline phosphatase and AST were significant variables to predict survival. In the multivariate analysis, performance status and alkaline phosphatase were the most important prognostic factors. CONCLUSION: Good-prognosis patients had a performance score of 0 (World Health Organization [WHO]) and an alkaline phosphatase serum level less than 1.25 times the upper limit of normal (N). These patients had a median survival duration greater than 4 years. Intermediate-prognosis patients were characterized by either a WHO performance status < or = 1 or an alkaline phosphatase level > or = 1.25 N. These patients had a median survival duration of 10 months and a 4-year survival rate of only 15%. The poor-prognosis group had both a WHO performance status > or = 1 and an alkaline phosphatase level > or = 1.25 N. These patients had a median survival duration of only 4 months and none survived beyond 14 months. Treatment strategies for these three groups are discussed. It is suggested that this prognostic model be validated in other patients series.     

A case of HTLV-I associated polyradiculoneuropathy and cerebral white matter lesions with smouldering type adult T cell leukemia

Chronic myelogenous leukemia (CML) is associated with an acquired karyotypic abnormality, the Philadelphia (Ph) chromosome, in 95% of cases. The Ph chromosome is the product of a balanced translocation that results in a hybrid gene that is considered essential for the pathogenesis of this disease. We have found a complex translocation involving chromosomes 9, 12, and 15 in a 42-year-old Haitian male with the clinical findings of CML. Complex translocations have been shown to result in the masking of the Ph chromosome. We used a mixture of two BCR-specific DNA probes for Southern blot analysis in order to test this hypothesis in our patient. High-molecular weight DNA was digested with the restriction enzymes BglII, BamHI and HindIII. The BglII digestion revealed the presence of two abnormal fragments of 3.9 and 3.0 kb and the BamHI digestion an abnormal 15-kb fragment. These data suggest there is a breakpoint in region 2 of M-bcr. The identification of this breakpoint confirms our hypothesis that a rearrangement involving 22q11 has occurred in the leukemic cells of our patient. A secondary translocation involving chromosomes 12 and 15 has hidden the effects of this translocation. Combined cytogenetic and molecular analysis establishes the karyotype of our patient as 46,XY,t(9;12;15;22)(q34;q12;q21;q11).     

Satoyoshi's syndrome in an adult: a review of the literature of adult onset cases

Satoyoshi syndrome consists of painful intermittent muscle spasms, alopecia and diarrhea. The age of onset is commonly less than 20 years of age. Adult onset of this syndrome is rare. We report a 65-year-old Japanese woman with Satoyoshi's syndrome of adult onset. Satoyoshi's syndrome of adult onset shows no skeletal abnormalities, in comparison with the classical pediatric cases. The clinical features in our patient revealed the benign and long-term course of muscle spasm and alopecia. This progression differed markedly from the other patients of adult onset. Thus, the severity of Satoyoshi's syndrome is variable in adult onset cases, and this diagnosis should be considered in adults with various and unexplained muscle spasms.     

A case of Stanford type A acute aortic dissection associated with a distal aortic arch atherosclerotic aneurysm

We report a rare case of Stanford type A acute aortic dissection associated with a distal aortic arch atherosclerotic aneurysm. A 71-year-old female was referred to us with the diagnosis of thrombosed Stanford type A acute aortic dissection, however on the next day transesophageal echocardiography revealed the false lumen has been recanalized. In the operation, there was a distal aortic arch atherosclerotic aneurysm which was unidentified at the preoperation. It is very rare that the dissection originated from atherosclerotic aneurysm and proceeded to proximal and distal portion of the aorta.