Haemodynamic evaluation of paraparetic transient ischaemic attacks in childhood moyamoya disease

Abstract

The haemodynamic mechanisms responsible for the appearance of paraparetic transient ischaemic attacks in ten patients with childhood moyamoya disease who subsequently underwent bifrontal omental transplantation were investigated. Cerebral perfusion (CP) was measured with ^99mTc-hexamethylene-propyleneamine oxime single photon computed tomography prior to and after administration of acetazolamide. Cerebral perfusion was obtained by dividing radioisotope uptake per pixel in regions of interest by that in cerebellum. Haemodynamic reserve was defined as [CP after acetazolamide - CP before acetazolamide]/CP before acetazolamide × 100. Amounts of CP in the anterior portion of the frontal lobe and in the paracentral lobule were 0.70±0.04 and 0.74 ±0.03, respectively, before appearance of the transient ischaemic attacks. The latter was significantly higher than the former (p <0.0001). Haemodynamic reserves were -11.1 ±2.8 and - 9.6 ± 3.0, respectively, at that time. These two parameters were significantly decreased just after paraparetic transient ischaemic attacks and two parameters in the paracentral lobule were more decreased than those in the anterior portion of the frontal lobe. But these increased again after bifrontal omental transplantation in these two regions. In summary, the watershed region was located anterior to the paracentral lobule before appearance of the transient ischaemic attacks, and widened and moved backward to include the paracentral lobule just before their appearance. [Neurol Res 1995; 17: 162-168]     

HTLV-I Positive Progressive Spastic Paraparesis (TSP) Associated with a Lymphoid Disorder in Three Chilean Patients

We describe the clinical and laboratory features in three Caucasian Chilean patients with tropical spastic paraparesis (TSP) associated with/or preceded by a lymphoproliferative disorder involving cutaneous lesions and localised lymphadenopathy. The neurological symptoms and signs were characteristic of TSP and CSF examination revealed the presence of oligoclonal bands. All three patients had a moderate leucocytosis (10-14 × 10⁹/1) with eosinophilia and a minority (2-4%) of circulating atypical polylobed or ATLL-like lymphocytes. Lymph node histology showed a diffuse pattern of infiltration (1 case) and marked expansion of the paracortical zone with convoluted lymphocytes and immunoblasts (2 cases). Skin biopsy demonstrated a dermal lymphoid infiltration with epidermotropism. Antibodies to HTLV-I were detected in the serum and CSF in the three patients and Southern blot analysis of peripheral blood mononuclear cells showed a monoclonal integration of HTLV-I proviral DNA in one case whereas in the two others the pattern was indicative of low level polyclonal integration. All three patients were treated with prednisolone and one with PUVA with transient partial response on the skin and neurological manifestations. Two patients died months to 5 years from presentation and the other is alive 12 years from diagnosis with active neurological and skin disease. The simultaneous occurrence of HTLV-I associated TSP with smouldering ATLL and a cutaneous ATLL or pre-leukaemic form is discussed.     

Increased oxidative stress with elevated serum thioredoxin level in patients with coronary spastic angina

BACKGROUND: Increased oxidative stress has been implicated in the pathogenesis of coronary vasospasm. Thioredoxin (TRX) is a redox-active protein that is known to be induced by oxidative stress. HYPOTHESIS: The serum TRX level may be high in patients with coronary vasospasm. METHODS: The serum TRX level was determined using an enzyme-linked immunosorbent assay in 21 patients with the active stage of coronary spastic angina (CSA), in 18 patients with the inactive stage of CSA (iCSA), in 24 control subjects without coronary artery disease (Control), and in 20 patients with stable effort angina (SEA). RESULTS: Serum TRX levels (mean +/- standard deviation ng/ml) were significantly higher in CSA (64 +/- 44) than in iCSA (28 +/- 26), in Control (34 +/- 15), and in SEA (36 +/- 16). In contrast, serum alpha-tocopherol levels (mg/g lipids) were significantly lower in CSA (2.8 +/- 0.7) than in Control (4.0 +/- 1.2) and in SEA (3.2 +/- 0.4). Current smoking was significantly more prevalent in CSA (76%) than in any of the other groups. No significant correlation was found between the serum level of TRX and alpha-tocopherol in the study subjects. In nine patients with CSA, the serum TRX level decreased (93 +/- 41 --> 41 +/- 35 ng/ml) and the alpha-tocopherol level increased (2.7 +/- 0.6 --> 3.2 +/- 0.7 mg/g lipids) significantly under medication with calcium entry blockers after an at least 3-month angina-free period. CONCLUSIONS: Patients with coronary spastic angina had a higher serum TRX level associated with a lower serum level of antioxidant vitamin E, with redox equilibrium appearing to be related to the disease activity of coronary vasospasm in these patients. Oxidative stress may be related to the genesis of coronary vasospasm.     

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3. Received: 14 November 2001, Received in revised form: 8 April 2002, Accepted: 23 April 2002 Correspondence to A. Quattrone, MD     

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

We studied nine Italian families with a pure form of autosomal dominant spastic paraplegia (ADHSP) to assess the frequency of mutations in the SPG4 gene. We observed marked intrafamilial variability in both age-at-onset and clinical severity, ranging from severe congenital presentation to mild involvement after age 55 years to healthy carriers of the mutation after age 70. Four of nine probands harboured SPG4 mutations, We identified three new SPG4 mutations, all predicting a loss-of-function with apparently important consequences for spastin function. RT-PCR studies predict loss-of-function as a possible mechanism leading to spastin-related HSP. The current study expands the spectrum of allelic variants in SPG4, confirming their pathological significance in pure AD-HSP and suggesting implications for the presumed function of spastin. Received: 15 December 2000, Received in revised form: 29 May 2001, Accepted: 18 June 2001     

脑瘫舒筋活络按摩油在痉挛型脑瘫患儿推拿中的应用

目的:探讨脑瘫舒筋活络按摩油对痉挛型脑瘫患儿推拿治疗的辅助作用。方法:对262例痉挛型脑瘫患儿应用脑瘫舒筋活络按摩油进行推拿治疗,并在治疗前后进行综合评价,进行统计学处理。结果:262例痉挛型脑瘫患儿经过3个小疗程治疗,肌张力显效98例(占37.40%),有效155例(占59.16%),无效9例(占3.44%);关节活动度接近或恢复正常范围者占96.56%,且配合程度越好,治疗效果越显著。结论:应用脑瘫舒筋活络按摩油进行婴幼儿推拿治疗,既能滋润保护皮肤黏膜,使患儿舒适配合,起到介质作用,又能有效地缓解痉挛,降低肌张力,改善关节活动度。     

Blunt abdominal trauma in children: epidemiology, management, and management problems in a developing country

Trauma is the leading cause of death in children in developed countries. In tropical Africa, it is only beginning to assume importance as infections and malnutrition are controlled. In developed countries, the availability of advanced imaging modalities has now reduced the necessity for laparotomy to less than 10% following blunt abdominal trauma (BAT) in children. This report reviews the epidemiology, management, and unnecessary laparotomies for pediatric BAT in a developing country in a retrospective review of 57 children aged 15 years or less at the Ahmadu Bello University Teaching Hospital, Zaria, Nigeria over 12 years. The average age was 9 years and the male-female ratio 3.8:1. Seventy-four percent (74%) of abdominal injuries in children were due to blunt trauma. The commonest causes of injury were road traffic accidents (RTA) (57%), 88% in pedestrians and 59% in children aged 5–9 years. Falls were the cause of trauma in 36%, 60% of them aged 10–15 years. Other causes of injury were sports in 5% and animals in 2%. Diagnosis was clinical, supported by diagnostic peritoneal lavage or paracentesis. Two patients had ultrasonography, and none had computed tomography. Fifty-three patients had a laparotomy, 2 died before surgery, 1 was managed nonoperatively, and in 1 surgery was declined. There were 34 splenic injuries, 20 treated by splenic preservation, splenectomy in 13, and non-operative in 1. Fourteen gastrointestinal injuries were treated in 12 patients. Of 9 hepatic injuries, 4 were minor and were left untreated, 3 were repaired, 1 was packed to arrest hemorhage, and a lacerated accesory liver was excised. Four injuries to the urinary tract (bladder contusion 2, bladder rupture 1, ruptured hydronephrotic kidney 1) were treated accordingly. There were 4 retroperitoneal hematomas associated with other intra-abdominal injuries and 2 pancreatic contusions. One lacerated gallbladder was treated by cholecystectomy and a ruptured left hemidiaphragm was repaired transperitoneally. In retrospect, 27 (51%) patients could have been managed by observation (splenic injury 20, liver injury 5, bladder contusion 2) using advanced imaging modalities. One patient developed an intra-abdominal abscess following splenorrhaphy. The average hospital stay was 17 days. Mortality was 8 (14.5%) from gastric perforation (3), liver injury (2), splenic injury (1), and 2 patients died before surgery. BAT in this population results predominantly from RTA in pedestrians. Laparotomy may be avoided in 51% of cases if advanced imaging modalities are readily available. Accepted: 28 October 1999     

Spastic paraplegia,epilepsy, and mental retardation in several members of a family: A novel genetic disorder

We report on a family in which an association between spastic paraplegia and epilepsy has been observed. This disorder is an autosomal dominant trait with incomplete penetrance and variable expressivity. The onset was limited to the first four decades of life; the symptoms were typically those of progressive weakness and spasticity of lower limbs. Epilepsy was present in members of three of the four generations on whom we have information. The concomitance of spastic paraplegia and epilepsy in several members of the same family is unlikely to be fortuitous and probably represents the pleiotropic effect of a single mutant gene. © 1993 Wiley-Liss, Inc.     

3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy

Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.