A case of small cerebral cyst and pericentric inversion of chromosome 9 that developed schizophrenia-like psychosis

A case of schizophrenia-like psychosis (psychotic disorder not otherwise specified according to the DSM-IV criteria) with pericentric inversion on chromosome 9 [inv.(9) (p11; q13)] is reported. In this case, a minor brain anomaly, a small cyst in the left subcortex, was observed on magnetic resonance imaging of the brain. In the clinical course, prominent chronic hallucinations were observed; however, there was no evidence of the disorganization of personality, delusion, and deterioration in level of functioning that are usually seen in schizophrenia. This case and a review of the literature indicate that the pericentric region of chromosome 9 might be a potential areas of interest for the aetiology of psychiatric disorders. The phenotype-karyotype relationship of pericentric inversion on chromosome 9 and its relationship to psychosis are discussed.     

Aniridie et tumeur de Wilms : deux cas de néphroblastome fœtal rhabdomyomateux

Background.

Wilms tumor is associated in 7 to 10 % of patients with congenital abnormalities. Among those, aniridia is the most constant feature of the WAGR syndrome that includes, in one third of cases, Wilms tumor. We report two cases of aniridia associated with fetal rhabdomyomatous nephroblastoma.

Case reports.

Case 1. A one-year old girl with congenital aniridia was admitted for macroscopic hematuria. Abnormal ultrasonography and tomodensitometry revealed a large, bilateral, kidney tumor. The patient was given actinomycin and vincristine, without efficacy. Bilateral tumorectomy was performed 6 months later and the histological study showed a fetal rhabdomyomatous nephroblastoma. This patient is in remission at the age of 5. Case 2. A boy, also with congenital aniridia, presented with macroscopic hematuria at the age of 2 years revealing a nephroblastoma located on his right kidney. Preoperative chemotherapy remained uneffective and the nephrectomy performed 1 month later permitted the diagnosis of fetal rhabdomyomatous nephrolastoma. The patient is well 4 years later.

Conclusion.

Both cases of fetal rhabdomyomatous nephroblastoma, a histological variant of Wilms tumor, seem to be the first reported in the WAGR syndrome.     

Intra-anal intussusception: diagnosis by posteroanterior stress proctography

Intra-anal intussusception was diagnosed in eight of 39 patients on evacuation proctography. Posteroanterior views revealed prolapse of the infolded rectum into the anal canal on straining in seven of eight patients, associated with splaying open of the anal canal and sudden distal movement of the fold during prolapse. Similar changes were seen in four of 31 patients in whom intussusception had not been diagnosed on lateral evacuation proctography. The pattern of the collapsed rectum was assessed for fold length, thickness, and angulation in relation to the midline of the rectum. Infoldings that prolapsed were closer to the anorectal junction on stress (mean 14.6 42.4 mm, p < 0.0001) showed greater change in height between rest and strain (28.8 14.6 mm, p < 0.05) and became more acutely angled during straining (41.9 5.3°, p < 0.01). Intra-anal intussusception may be missed in 33% (four of 12 patients) on routine evacuation proctography. Posteroanterior stress proctography is a simple supplementary examination to validate intussusception.     

Hereditary neuropathy with liability to pressure palsies

Summary Clinical, neurophysiological and pathological investigations were carried out in 11 affected members of 2 families with hereditary neuropathy with liability to pressure palsies (HNPP). The observations were related to findings in 261 cases of 47 families published in the literature. It was concluded that HNPP is a nosological entity characterized by the following diagnostic criteria: (1) an autosomal dominant inheritance; (2) the clinical presentation of a recurrent mononeuropathy simplex or multiplex, frequently related to an inadequate trauma to peripheral nerves; (3) a significant slowing of motor and sensory conduction velocity in clinically affected, but also in clinically unaffected nerves; (4) characteristic morphological findings in sural nerve biopsy featuring tomaculous swellings of myelin sheaths, transnodal myelination and segmental demyelination. The pathogenesis of HNPP is not clear. Hypothetical explanations of the pathogenesis of HNPP are discussed.In memory of Albert Bischoff (1921–1981), Professor of Neurology, University of Berne     

Early splenectomy and polychemotherapy versus polychemotherapy alone in chronic myeloid leukemia

The effect of early splenectomy and of polychemotherapy with hydroxyurea, busulfan, and alternate bimonthly courses of arabinosyl cytosine and vincristine plus prednisone, was evaluated in 139 previously untreated patients with chronic myeloid leukemia (CML), consecutively admitted to 18 hospitals from March 1973 to October 1974. Fifty-six patients were splenectomized and 83 patients were not splenectomized. Splenectomy did not influence the duration of chronic and blastic phase, and did not prolong survival. The prognosis of high risk patients was not improved. During the chronic phase, high platelet counts were more frequent in splenectomy group, and five patients developed thrombotic or thromboembolic complications, 5 to 19 months after the operation. The median survival of the whole group was 50 months, with 32 of 139 patients (actuarial proportion 30%) remaining alive 72 months after diagnosis, but the slope of the survival curve was similar to that of historical controls. The results of this trial suggests that new strategies should be developed for the therapy of CML.     

腹腔镜与腹腔镜辅助乙状结肠代阴道术治疗MRKH综合征

目的 :总结使用全腹腔镜和腹腔镜辅助下乙状结肠阴道成形术各成功治疗1例Mayer Rokitansky Kuster Hauser综合征 (MRKH综合征 )的经验。方法 :全腹腔镜下使用腔镜闭合切割器切断乙状结肠的近端和远端。自肛门插入腔内圆型吻合器 ,将降结肠与直肠吻合。经会阴于尿道膀胱与直肠之间造穴。将带血管蒂的乙状结肠牵入穴道 ,完成阴道成形。腹腔镜辅助下阴道成形中 ,腔镜闭合切割器切断乙状结肠的远端后 ,于左下腹壁做一辅助切口 ,将近端乙状结肠经此切口拉出至腹腔外。切断乙状结肠近端 ,将乙状结肠的远端开口缝合 2层 ,使之成盲端。近侧端开口置入吻合器之钉钻 ,再行荷包缝合送回腹腔 ,用吻合器行肠吻合。其余步骤同全腹腔镜手术步骤。术后根据临床检查或磁共振成像测量新成形阴道的长度和宽度。结果 :全腹腔镜手术新成形的阴道长 18cm ,宽 4cm。腹腔镜辅助手术新形成的阴道长 19cm ,宽 4cm。两例新形成的阴道黏膜湿润 ,呈粉红色。无术中和术后并发症的发生。结论 :经腹腔镜乙状结肠移植段的长度完全能达到开腹手术的要求。与开放手术比较 ,全腹腔镜乙状结肠代阴道手术在腹壁上不留手术瘢痕 ,美容效果理想。而腹腔镜辅助下阴道成形 ,虽腹壁留有小手术疤痕 ,但操作简便 ,手术时间短 ,手术费用低     

错畸形牙弓形态的模拟及比较

目的 :比较不同类型错牙合畸形的牙弓形态。方法 :采用三维测量仪精密测量正常牙合及 4组不同类型错牙合(ClassⅠ双颌前突、ClassⅡ1、ClassⅡ2 、ClassⅢ )的原始模型 ,圆锥曲线模拟其牙弓形态。结果 :不同类型错牙合牙弓形态的差异有显著性 ,甚至某些分组的上下颌之间牙弓形态的差异也有显著性。结论 :临床上弯制弓丝时采用单一的标准牙弓形态是不完全科学的 ,应考虑错牙合的不同类型及其矫治前不同的牙弓形态以防止畸形复发。     

Accessory scrotum with imperforate anus

Accessory scrotum is the rarest anomaly of the scrotum; less than two dozen cases have been reported. A case of accessory scrotum with imperforate anus is reported.     

Left Ventricular Anomalous Muscle Band and Electrocardiographic Repolarization Changes

A child with considerable electrocardiographic (ECG) repolarization abnormalities is reported in whom, after clinical and hemodynamic evaluation, only a large muscular false tendon within the left ventricular cavity was found. The genesis of the ECG changes in such cases is discussed, and the differential diagnosis from apical hypertrophic cardiomyopathy is analyzed.     

A Family Study of Autism: Cognitive Patterns and Levels in Parents and Siblings

First-degree relatives of 99 autism probands and of 36 Down's syndrome controls were assessed with standardised tests of intellectual functioning, reading, and spelling. Higher mean verbal IQ scores, and discrepancies in favour of verbal scores, were characteristic of autism relatives. No consistent differences were found on performance scales, reading, and spelling tests. Among autism relatives, siblings affected with the broad phenotype of autism had significantly lower IQ scores and poorer reading and spelling performances than unaffected siblings. However, the small size of the cognitive difference and the lack of a distinctive cognitive profile indicates that standardised cognitive measures used in this study are unlikely to improve the operationalised definition of the broad phenotype of autism. The slightly superior verbal performance of relatives in the autism group might represent some form of heterozygote advantage.