Mental deficiency,alterations in performance,and CNS abnormalities in overgrowth syndromes

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes.     

Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome

We report on a 7-month-old boy with Micro syndrome who was referred for assessment of mental-motor retardation and reduced vision with cataract. The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome. Till date, no renal malformations have been reported in Micro syndrome. Our patient had fusion of the lower poles of the kidneys and his left kidney was ectopic. Ocular findings are the most reliable neonatal diagnostic signs of Micro syndrome. Min?r anomalies in Micro syndrome may be subtle and therefore not of significant diagnostic value. Micro syndrome is an autosomal recessive trait. Till date, most reported cases have been in individuals of Muslim origin. In countries with high rates of consanguineous marriage, such as Turkey, it is important that physicians be able to recognize this syndrome. Micro syndrome should be considered in any infant with congenital cataract.     

Genetics of skin appendage neoplasms and related syndromes

In the past decade the molecular basis of many inherited syndromes has been unravelled. This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome.     

Contrasting Patterns of Cognitive Abilities of 9- and 10-Year-Olds With Williams Syndrome or Down Syndrome

Comparative cognitive strengths and weaknesses of 9- and 10-year-old children with Williams syndrome or Down syndrome were examined. From an original sample of 21 children with Williams syndrome and 25 children with Down syndrome, 13 pairs of children with Williams or Down syndrome were individually matched for chronological age and total points earned on the McCarthy Scales of Children's Abilities (MSCA). All of the unmatched children with Williams syndrome earned more total points than any of the unmatched children with Down syndrome, suggesting that the general cognitive ability distributions for Williams syndrome and Down syndrome are not equivalent. Performance of the matched pairs of participants on both the MSCA (domain and subtest) and the Peabody Picture Vocabulary Test-Revised (PPVT-R) was contrasted. Participants with Williams syndrome showed comparative strengths in the Verbal and Memory domains, whereas children with Down syndrome showed a comparative strength in the Perceptual-Performance domain. Children with Williams syndrome showed subtest strengths indicating comparatively stronger verbal memory abilities, but no significant differences in performance on subtests measuring semantic abilities or on the PPVT-R were observed. Children with Down syndrome showed subtest strengths indicating comparatively stronger visuospatial constructive skills. Findings are discussed in relation to results of previous studies contrasting adolescents and young adults with Williams syndrome or Down syndrome.     

Cushing's syndrome in patients with the Zollinger-Ellison syndrome

Reports of Cushing's syndrome in patients with the Zollinger-Ellison syndrome are rare, although up to 30 percent of gastrinomas contain ACTH-like immunoreactivity. We prospectively examined 75 patients with the Zollinger-Ellison syndrome for Cushing's syndrome. Three of 59 patients (5 percent) with the sporadic form of the Zollinger-Ellison syndrome had Cushing's syndrome, with severe symptoms due to ectopic production of ACTH. Each of these patients had metastatic gastrinoma, responded poorly to chemotherapy, and died within three years of the diagnosis of both syndromes. Three of 16 patients (19 percent) with the Zollinger-Ellison syndrome and multiple endocrine neoplasia type 1 had Cushing's syndrome due to pituitary production of ACTH, and their symptoms were mild. The gastrinoma in these patients was localized, and the prognosis was excellent. Thus, Cushing's syndrome is more common in patients with the Zollinger-Ellison syndrome than was previously reported, occurring in 8 percent of all cases. Furthermore, Cushing's syndrome in patients with sporadic Zollinger-Ellison syndrome and in those with multiple endocrine neoplasia type 1 differ in incidence, cause, clinical severity, extent of gastrinoma, the need for therapy, and prognosis. All patients with the Zollinger-Ellison syndrome and all patients with multiple endocrine neoplasia type 1 should be screened for Cushing's syndrome.     

Psychosocial and sexual functioning in women with Turner syndrome

Noonan syndrome, multiple lentigines syndrome (LEOPARD syndrome), Watson syndrome and neurofibromatosis type 1 share certain clinical manifestations. We present a linkage analysis using microsatellite markers located in the neurofibromatosis type 1 region at 17q11 in a family with Noonan syndrome and café-au-lait spots and in another family with multiple lentigines syndrome. No linkage of the disease to the neurofibromatosis type 1 locus was found in the families investigated. On the basis of our results, we suggest that neither familial multiple lentigines syndrome nor Noonan syndrome is caused by a defect in the neurofibromatosis type 1 gene.     

Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison

School-aged children and adults with Williams syndrome have repeatedly been found to evidence an expressive vocabulary advantage relative to same-aged individuals with Down syndrome. However, Singer Harris, Bellugi, Bates, Jones, and Rossen (1997) argued that this advantage is reversed during the initial period of language acquisition; during this time, children with Down syndrome have larger expressive vocabularies than children with Williams syndrome. This result may have been due to methodological problems, however. This study uses a different design to reconsider the question of whether toddlers with Williams syndrome show an expressive vocabulary advantage over same-aged toddlers with Down syndrome. Parents of twenty-four 2-year-olds with Williams syndrome and twenty-eight 2-year-olds with Down syndrome completed the vocabulary checklist from the MacArthur Communicative Development Inventory: Words and Sentences. The 2 groups were carefully matched for chronological age (CA). Results indicated that the toddlers with Williams syndrome had substantially and significantly larger expressive vocabulary sizes than did the CA-matched children with Down syndrome. Additional analyses of children for whom data were available between the ages of 2 years 0 months and 2 years 3 months indicated that the expressive vocabulary advantage for children with Williams syndrome was present even at this very young age when none of the children had begun to produce word combinations. The Discussion section that follows addresses the discrepancy between these findings and those of Singer Harris et al. and considers the variability present within both the Williams syndrome and Down syndrome samples. Also discussed is the continuity across the lifespan in both the expressive vocabulary advantage shown by individuals with Williams syndrome relative to same-aged individuals with Down syndrome and the expressive vocabulary variability within each syndrome.     

The trichorhinophalangeal syndrome with repeated dislocation of the patella

The trichorhinophalangeal syndrome associated with laxity of the skin and joints has been mistaken for Ehlers-Danlos syndrome (Jones 1988). We report a case of the trichorhinophalangeal syndrome which we mistook for the Larsen syndrome. Literature and published photographs of the Larsen syndrome are reviewed to highlight the similarities between these two entities. These observations may be of value in the genetic mapping of the Larsen syndrome, which perhaps is a contiguous gene syndrome.     

Psychopathology of acute paraphrenic syndrome, its typological forms and their relation to variants of paroxysm-like progredient schizophrenia

A total of 60 patients with different forms of paroxysm-like progredient schizophrenia were examined to clarify psychopathology of acute paraphrenic syndrome in different variants of the disease. Three typological variants were distinguished: with picturesque delirium, manifestations of Knadinsky-Clerambault syndrome, and confabulation disorders. It was shown that paroxysm-like progredient schizophrenia akin to recurrent one is characterized by acute paraphrenic syndrome with picturesque delirium; paroxysm-like progredient schizophrenia akin to juvenile malignant one is characterized by acute paraphrenic syndrome dominated by Knadinsky-Clerambault syndrome and picturesque delirium; paroxysm-like progredient schizophrenia akin to paranoid one is characterized by acute paraphrenic syndrome dominated by Knadinsky-Clerambault syndrome or acute paraphrenic syndrome with confabulation disorders. The study confirms specificity of acute paraphrenic syndrome for paroxysm-like progredient schizophrenia     

A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome

We report here two siblings diagnosed as having Beckwith-Wiedemann syndrome. In addition to Beckwith-Wiedemann syndrome, one of the siblings was also diagnosed with prune belly syndrome. The other sibling suffered from obstructive uropathy and unilateral cryptorchidism, which are also seen in prune belly syndrome. We believe that these two cases point to a potential association between Beckwith-Wiedemann syndrome, prune belly syndrome, and urinary tract anomaly.     

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.     

The "self-inflammatory syndrome"

The "self-inflammatory syndrome" gathers diseases all characterized by a recurrent inflammatory syndrome with fever, in the absence of infection or neoplasia. It is based on a genetic support characterized by mutations in genes implied in the inflammatory response and in the activation of the cytokine network. The diseases associated with this syndrome are familial Mediterranean fever (FMF), TRAPS (tumor necrosis factor receptor super family 1 A-associated periodic syndrome), familial cold urticaria, the Muckle-Wells syndrome, the hyper IgD syndrome and CINCA. The clinical symptoms of all these diseases include in the auto-inflammatory syndrome are quite similar: recurrent attacks, with fever, articular, abdominal, cutaneous symptoms, and an inflammatory syndrome.     

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and Usher syndrome type II. Usher syndrome type III clinical subtype is the rarest form of Usher syndrome in Spain, accounting only for 6% of all Usher syndrome Spanish cases. The gene responsible for Usher syndrome type III is named clarin-1 and it is thought to be involved in hair cell and photoreceptor cell synapses. Here, we report a screening for mutations in clarin-1 gene among our series of Usher syndrome Spanish patients. Clarin-1 has been found to be responsible for the disease in only two families: the first one is a previously reported family homozygous for Y63X mutation and the second one, described here, is homozygous for C40G. This accounts for 1.7% of Usher syndrome Spanish families. It is noticeable that, whereas C40G family is clinically compatible with Usher syndrome type III due to the progression of the hearing loss, Y63X family could be diagnosed as Usher syndrome type I because the hearing impairment is profound and stable. Thus, we consider that the progression of hearing loss is not the definitive key parameter to distinguish Usher syndrome type III from Usher syndrome type I and Usher syndrome type II.     

肝病常见证候的甲襞和球结膜微循环观察

为了研究肝病证候的病理生理基础，探讨肝证临床辨证客观化指标，按照田牛临床微循环检查方法，对111例辨证属于中医肝证的病例进行了甲壁和球结膜微循环检查。结果表明，所有肝证患者甲壁和球结膜微循环积分值显著高于健康人对照组（P＜0.01）。肝气郁结和肝血虚二证积分值相近，变化程度较轻。肝阳化风证患者积分值显著高于肝气郁结、肝阳上亢和肝血虚证（P＜0.001）。结果提示甲襞和球结膜微循环改变与中医肝证临床特征相符，临床微循环检查对肝病辨证和指导治疗有一定参考价值。     

Hardikar syndrome: long term outcome of a rare genetic disorder

Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. The syndrome is clearly distinct from other previously described syndromes such as Alagille syndrome, congenital hepatic fibrosis, Caroli disease, and Kabuki make-up syndrome. To date, only four cases of Hardikar syndrome have been published worldwide. We report here on the long term outcome of these patients.     

The Mohr syndrome: are there two variants?

Two female siblings with the oral-facial-digital type II syndrome, or Mohr syndrome, presented an associated brain malformation: the Dandy-Walker syndrome. Up till now, patients with the Mohr syndrome have been considered to be free of mental deficits and/or brain defects. After reviewing the literature and considering the current criteria for OFD type II syndrome, other possible cases of Mohr syndrome associated with brain abnormality are discussed.     

49,XXXXY: a distinct phenotype. Three new cases and review.

Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.     

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.     

自闭症及有关儿童发展障碍

本文主要介绍自闭症和有关儿童发展障碍,包括Ａｎｇｅｌｍａｎ综合征、Ａｓｐｅｒｇｅｒ综合征、脆弱Ｘ综合征、Ｌａｎｄａｕ－Ｋｌｅｆｆｎｅｒ综合征、Ｐｒａｄｅｒ－Ｗｉｌｌｉａｍ综合征。这些儿童发展障碍与自闭症在许多方面有相似之处,例如智力发民迟缓、社会交往障碍和古怪的行为等,但各自具有独特的病理基础和症状表现。     

Campylobacter jejuni enteritis and Guillain-Barré syndrome]

Some patients developed Guillain-Barré syndrome after the administration of bovine brain ganglioside. Patients with Guillain-Barré syndrome subsequent to Campylobacter jejuni enteritis frequently have IgG antibody to GM1 ganglioside. Miller Fisher syndrome, a variant of Guillain-Barré syndrome, is associated with IgG antibody to GQ1b ganglioside. My colleagues and I showed the existence of molecular mimicry between GM1 and lipopolysaccharide of C. jejuni isolated from a patient with Guillain-Barré syndrome, and that between GQ1b and C. jejuni lipopolysaccharides from patients with Miller Fisher syndrome. The glycotope mimicry between infectious agents and gangliosides may function in the production of antiganglioside antibodies and the development of Guillain-Barré syndrome and Miller Fisher syndrome.