Reversed palmaris longus muscle on MRI: report of four cases

Muscle anomalies around the wrist, in particular the palmaris longus muscle, may cause effort-related median nerve compression. A search of the medical records at our university hospital between 1994 and 1999 revealed four patients with an effort-related median nerve compression due to a reversed palmaris longus muscle. Magnetic resonance imaging was used in the patient work-up and showed an anomalous muscle in each case that had been missed initially. All four patients were free of pain after simple excision of the anomalous muscle. Awareness of muscle anomalies at the wrist on MR imaging is essential in evaluating patients with nerve compressions at the wrist. The purpose of this article is to heighten this awareness in radiologists. Received: 23 June 1999; Revised: 30 September 1999; Accepted: 24 December 1999     

正常及右位心胎儿的静脉导管超声多普勒血流波形变化

目的探讨胎儿静脉导管(DV)超声波血流波形随孕周变化的规律,检查右位心胎儿DV波形并随访其妊娠结局。方法采用Acuson128xp/10彩色多普勒超声仪测定142名正常妊娠日本妇女胎儿DV多普勒血流阻力指数(DV-RI),随访1例右位心胎儿DV超声多普勒血流波形变化及分娩结局。结果DV-RI与孕周呈负相关(r=-0．247,P=0．003 3)。右位心胎儿DV多普勒血流波形的心房收缩波近缺失。结论随孕周增加,DV-RI呈下降趋势。DV多普勒血流波形心房收缩波形缺失提示心脏前负荷增加、右心功能不良。     

Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis

Pfeiffer syndrome is a rare fibroblast growth factor receptor‐related craniosynostosis with variable clinical presentations. We describe new dental findings of hypodontia, microdontia, dilacerations, and radicular dentin dysplasia in a 19‐year‐old girl, and discuss the oral health management.     

Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders

Background: Supernumerary sex chromosome aneuploidies (X/Y‐aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri‐, tetra‐, and pentasomy X/Y‐aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X and Y chromosomes on language and social functioning. Methods: Participants included 110 youth with X/Y‐aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean ～12 years; range 4–22) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the Children’s Communication Checklist‐2 and the Social Responsiveness Scale to assess language skills and autistic traits, respectively. Results: Both supernumerary X and Y chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X chromosomes had a disproportionately greater impact on structural language. Conclusions: Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y‐aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders.     

Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome

We retrospectively analysed long-term serial audiometry data from patients with branchio-oto-renal (BOR) syndrome to show the features of progression and fluctuation in hearing impairment and relate the findings to age and magnetic resonance imaging (MRI) findings in the petrosal bones. Thirty-two clinically affected BOR patients from six Dutch families (A–F) were included. Audiograms were available in 24 cases, covering followup intervals of between 3 and 30 years, and suitable for individual statistical analysis in 16 cases; 14 cases also had MRI findings. Significant progression in hearing impairment was found in 10 cases, while findings of significant fluctuation were made in seven cases. These findings did not clearly correlate with MRI findings. Substantial fluctuation occurred only in cases followed at a relatively young age. Patients with an enlarged endolymphatic duct and/or sac showed significantly higher sensorineural hearing thresholds than those with either normal MRI findings or cochlear/labyrinthine hypoplasia with or without enlarged duct or sac. We conclude that progressive, fluctuant hearing loss occurred in some BOR patients; however, only young patients showed substantial threshold fluctuation. BOR patients with an enlarged endolymphatic duct and/or sac on MRI seemed to be predisposed to developing more severe hearing impairment.     

Neurosurgical management of spasticity

Spina Bifida aperta is getting less common. All paediatricians know this. With the increasing availability of MRI more spina bifida occulta is being diagnosed. This article is to highlight the reader the current neurosurgical management of the different types of spina bifida. It is to guide the reader so that late presentations can be avoided and early intervention can be offered to protect bladder, bowel and motor function. It will not talk about hydrocephalus.     

Management of visceral vascular anomalies

Vascular malformations affect the viscera less commonly than the head and neck, extremities, and extra-cavitary soft tissues. They present with a wide spectrum of symptoms and findings including pain, respiratory compromise, hemoptysis, chylothorax, ascites, gastrointestinal bleeding, and obstruction. Management options depend upon the subtype of malformation and anatomic extent and may include sclerotherapy, embolization, surgical extirpation, coloanal pull-through, and occasionally more innovative individualized surgical approaches.