Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.     

Lumbosacral epidural lipomatosis causing rapid onset cauda equina syndrome

Spinal epidural lipomatosis (SEL) is a rare cause of cauda equina syndrome (CES), which must be diagnosed with MRI in conjunction with a high level of clinical suspicion. Most reported cases are associated with obesity, steroid use or are secondary to endocrinopathies, frequently present subacutely or chronically, and have been managed with both surgical decompression and non-operative measures. We describe an obese 55-year-old man with rapid onset CES secondary to idiopathic lumbosacral SEL which was managed successfully with surgical decompression. Although often thought to be a trivial radiological finding, it is important not to be dismissive of patients presenting with compressive neuropathy and MRI evidence of space-occupying SEL.     

The validity of the PAM-RL device for evaluating periodic limb movements in sleep and an investigation on night-to-night variability of periodic limb movements during sleep in patients with restless legs syndrome or periodic limb movement disorder using this system

BackgroundThe status of night-to-night variability for periodic limb movements in sleep (PLMS) has not been clarified. With this in mind, we investigated the validity of PLMS measurement by actigraphy with the PAM-RL device in Japanese patients with suspected restless legs syndrome (RLS) or periodic limb movement disorder (PLMD) and the night-to-night variability of PLMS among the subjects.MethodsForty-one subjects (mean age, 52.1 ± 16.1 years) underwent polysomnography (PSG) and PAM-RL measurement simultaneously. Thereafter, subjects used the PAM-RL at home on four more consecutive nights.ResultsThe correlation between PLMS index on PSG (PLMSI-PSG) and PLM index on PAM-RL (PLMI-PAM) was 0.781 (P < .001). When the PLMSI cutoff value on PSG was set at 15 episodes per hour, the cutoff value for predicting this PLMSI level was 16.0 episodes per hour. When the condition was set to the level in which the mean interclass correlation coefficient reached ⩾0.9, the number of required nights for repeated measurements was 26 nights for subjects with PLMI of <15 episodes per hour and three nights for those with PLMI ⩾15 episodes per hour on PAM-RL.ConclusionsPAM-RL is thought to be valuable for assessing PLMS even in Japanese subjects. Recording of PAM-RL for three or more consecutive nights may be required to ensure the screening reliability of a patient with suspected pathologically frequent PLMS.     

自拟方辨证治疗功能性便秘的临床疗效

为探讨自拟方辨证治疗功能性便秘的疗效,将120例功能性便秘患者随机分为对照组和观察组,各60例,对照组患者口服聚乙二醇4000散剂治疗,观察组根据中医辨证将患者进行分型（热秘型、气虚型、血虚型、阴虚型、阳虚型、肝郁型）,并采用自拟中药方分型进行治疗,对比观察两组患者治疗4周后及停药4周后的总体疗效。结果显示,观察组治疗4周后及停药4周后的总有效率均明显高于对照组,P＜O．05。结果表明,自拟方辨证治疗功能性便秘具有较好的临床疗效,而且疗效较持久。     

【特刊综述】性腺功能低下在克氏综合征中的角色

克氏综合症（47,XXY）（KS）是最常见的性染色体异常,也是男性不育和性腺功能低下的常见原因。大部分KS患者终其一生都不知道自己患有这个疾病,只有25％的患者得到诊断,而在青春期前被诊断的更是少数。除了性腺功能低下和无精子症,大多数KS患者都有一定程度的学习障碍,并且可能有多种精神问题。长期性腺功能低下的影响可能使其难以与额外的x染色体引起的基因剂量效应相辨别。不管是什么原因,KS患者常出现身体成分的改变,包括脂肪增加、肌肉减少和骨矿物质流失,同时发生代谢障碍的风险也增加,例如患2型糖尿病和代谢综合征。这些发现应该引起我们的重视,因为他们不仅仅是简单的化验结果,流行病学调查表明KS患者因不同的疾病住院和死亡的风险均增加。KS患者应该在青春期早期就被给予睾丸激素治疗,尽管目前证据不足,因为至今仍未有随机对照试验的文章发表过。在这篇文章里,我们回顾了近期关于KS患者性腺功能低下症的研究进展和睾丸激素治疗的合理性,希望能为这个常见但往往被忽视的综合征提出我们的最佳建议。     

Mutation analysis of Crouzon syndrome in Taiwanese patients

Crouzon syndrome is an autosomal-dominant disorder that causes premature fusion of the cranial suture. Crouzon, Pfeiffer, and Apert syndromes are caused by mutations in the extracellular, third immunoglobulin-like domain, and adjacent linker regions (exons IIIa and IIIc) of the fibroblast growth factor receptor 2 (FGFR2) gene. We screened 12 Crouzon syndrome patients for mutations in exons IIIa and IIIc of the FGFR2 gene by polymerase chain reaction (PCR) and direct sequencing. Mutations were detected in nine of 12 patients at amino acid positions 278, 281, 289, 342, and 354. More than half of the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel missense Ser354Phe substitution at exon IIIc of the human FGFR2 gene was found. According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome.