Silver-Russell综合征病例报道一例并文献复习

目的通过报道罕见的Silver-Russell综合征病例1例,并文献复习,了解该疾病的研究进展。方法对1例Silver-Russell综合征患儿的临床表现、实验室检查进行观察与分析并复习相关文献。结果确诊Silver-Russell综合征1例。结论 Silver-Russell综合征临床极少见,临床有遇到（1）宫内及生后生长发育迟缓;（2）典型面部特征：相对巨颅、三角脸等;（3）躯体不对称畸形;（4）喂养困难的患儿应警惕本病可能。本疾病临床表现非特异性,临床诊断困难,对高度可疑本病的患儿应行基因检查,一旦确诊应尽早采取重组人生长激素（GH）替代治疗等综合治疗,以改善患儿生存质量。     

Familial Prader-Willi syndrome: case report and a literature review

Prader-Willi syndrome (PWS) is a neurobehavioural disorder arising through a number of different genetic mechanisms. All involve loss of paternal gene expression from chromosome 15q11q13. Although the majority of cases of PWS are sporadic, precise elucidation of the causative genetic mechanism is essential for accurate genetic counselling as the recurrence risk varies according to the mechanism involved. A pair of siblings affected by PWS is described. Neither demonstrates a microscopically visible deletion in 15q11q13 or maternal disomy. Methylation studies at D15S63 and at the SNRPN locus confirm the diagnosis of PWS. Molecular studies reveal biparental inheritance in both siblings with the exception of D15S128 and D15S63 where no paternal contribution is present indicating a deletion of the imprinting centre. Family studies indicate that the father of the siblings carries the deletion which, he has inherited from his mother. The recurrence risk for PWS in his offspring is 50%.     

Hermansky-pudlak syndrome: report of a case and review of the literature

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.     

Budd-Chiari syndrome and Epstein-Barr virus (EBV) associated plasmacytoma in a patient with chronic active EBV infection

A 42-year-old Japanese man with chronic active Epstein-Barr virus (EBV) infection initially responded to treatment with interleukin-2 (IL-2). Six months later he developed thrombosis in the hepatic veins, and Budd-Chiari syndrome associated with severe hepatic damage was diagnosed. He also developed a solitary EBV-positive plasmacytoma in the right femur. Since these rare complications occurred after long-term IL-2 therapy, the possibility that long-term IL-2 therapy might cause Budd-Chiari syndrome and liver damage as well as EBV-associated plasmacytoma is discussed.Abbreviations EBV Epstein-Barr virus - EBER1 EpsteinBarr virus-encoded RNA-1 - IL-2 interleukin-2 - NK natural killer - LMP latent membrane protein - LAK lymphokine activated killer     

羊膜带综合征并发肢体-体腔壁综合畸形尸检及文献复习

目的探讨羊膜带综合征(amnioticbandsyndrome,ABS)的发病机制、临床病理特点与诊断。方法对1例在孕26周经超声检查被诊断为ABS的胎儿病例进行尸检,结合文献讨论其发病机制、临床病理特点及诊断方法。结果本例主要表现为唇裂、腭裂、腹裂、肢体缺陷、脑积水、室间隔肌部缺损、脐带过短等畸形。结论ABS的发病机制存在争议,临床特点呈多样性,肢体-体腔壁综合畸形是其中的严重类型。产科超声检查是诊断胎儿ABS的有效方法。     

Recombinant Down syndrome: a case report and literature review

We report a case of a child with features of Down syndrome (DS) but with an atypical karyotype. Initial chromosome analysis was 46,XX,dup(21q).ish 21(wcp21+). The father's chromosomes were normal. However, the mother was found to have mosaicism for a pericentric inversion of chromosome 21 (19/30 cells). The revised chromosome result of the child was 46,XX,rec(21)dup(21q)inv(21)(p12q21.1)mat. A literature review of similar cases (hereafter referred to as rec dup(21q)) was conducted to aid counselling about recurrence risks and the prognosis for this child. All previous reports of rec dup(21q) were secondary to a maternal pericentric inversion. Male carriers did not seem to be at risk of having offspring with the rec dup(21q), although the number of male carriers was limited. In those with rec dup(21q), the risk of congenital heart disease was similar to that of trisomy 21. In reported cases, the facial appearance was suggestive of Down syndrome but perhaps less striking. Although the data are limited, there is an indication the developmental disabilities and short stature are milder in those with rec dup(21q) compared to trisomy 21. These observations promote the concept that the region of chromosome 21 proximal to the duplication contains genetic information contributing to the expression of some features of Down syndrome.     

A case of severe TBCE‐negative hypoparathyroidism‐retardation‐dysmorphism syndrome: Case report and literature review

Hypoparathyroidism‐retardation‐dysmorphism syndrome (HRD) is a rare autosomal recessive disorder attributed to the mutations in the tubulin‐specific chaperone E (TBCE) gene, which is vital for microtubule function during mitosis, organelle positioning, and neuronal cytokinesis. HRD is a congenital syndromic hypoparathyroidism associated with growth deficiency, microcephaly, intellectual disability, ocular anomalies, and facial dysmorphism. To our knowledge, there is only one published case of mild HRD‐like syndrome with no identifiable genetic etiology. We report a case of severe TBCE‐negative phenotypic HRD in a 4‐year‐old female from India presenting with hypocalcemic seizures due to congenital hypoparathyroidism, extreme microcephaly, growth deficiency, ocular anomalies, and facial dysmorphism. SNP microarray and whole exome sequencing (WES) did not detect any abnormalities in TBCE or other genes of interest. WES revealed two variants of unknown clinical significance in CASC5 gene, which codes for a protein in the kinetochore and, interestingly similar to TBCE, is essential for proper microtubule function during mitosis and cell proliferation and has been implicated in primary microcephaly disorders. However, further targeted sequencing in the parents revealed both variants inherited from the unaffected mother. Significant copy number variant noise in the proband and her parents limited further analysis. At this time the role of variants in the CASC5 gene is unclear and cannot explain our patient's phenotype. In conclusion, we report a severe case of phenotypic HRD syndrome, in which extensive genetic evaluation failed to reveal an etiology. Our case demonstrates that the pathogenesis of HRD may be genetically heterogenous, meriting further genetic investigations.     

无脾综合征与多脾综合征尸检及文献复习

目的：增强对无脾与多脾综合征的认识。方法：报道我院尸检发现的无脾综合征３例、多脾综合征１例，复习文献、对该综合征的临床病理学特征进行讨论。结果：无脾综合征特征：（１）脾脏缺如；（２）心血管畸形；（３）内脏异位（倾象于右侧内脏结构重复）。多脾综合征特征：（１）多个脾脏；（２）心血管畸形。（３）内脏异位（倾象于左侧内脏结构重复）。结论：无脾与多脾综合征是一种复杂的先天性畸形、罕见、预后差     

Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature

The Galloway–Mowat syndrome (GMS) (MIM251300) is described as an autosomal recessive disorder, the gene of which has not yet been identified. We report the case of a boy presenting with an early nephrotic syndrome, microcephaly, seizures, and psychomotor retardation. He died at 3 years and 11 months in a context of end-stage renal function consistent with a GMS. He was the second child of a non-consanguineous marriage. There was no family history of nephrotic syndrome or end-stage renal failure, but his mother had a moderate mental retardation complicated by seizures. He presented dysmorphologic features, including micrognathia and large and floppy ears. Renal biopsy showed a focal segmental glomerulosclerosis with a collapsing glomerulopathy and abundant visceral epithelial cell proliferation. The majority of the glomeruli were sclerotic. We report the first case of GMS associated with a collapsing glomerulopathy.     

Clinicopathological study of severe chronic active Epstein-Barr virus infection that developed in association with lymphoproliferative disorder and/or hemophagocytic syndrome

Chronlc active Epstein-Barr virus (CAEBV) infection has been prevlously reported to be sometimes associated with an aggresslve clinical course. However, the role of EBV in the CAEBV Is not well clarifled. A retrospective study was performed on nine adult and five child patients (eight males and six females). Histologlcally, at first admission, the presence of neoplastic lesions could not be confirmed. The lymph nodes In half of all cases revealed paracortical hyperplasla with transformed lymphocytes (hyperplastic type). Half of the cases showed nonsuppuratlve necrosis and an Increased number of histiocytes with phagocytosis (histiocytic type). Activated histiocytes with lymphokine positivity were frequently detected in the histiocytic type. In the phenotypical study, 10 of the examined 11 cases showed Increased numbers of natural killer (NK) cells and/or CD8 positive T lymphocytes. In situ hybridization (ISH) showed EBV-Infected lymphoid cells, but the number of EBV-infected cells varied. Double-labeling irnmunochemistryASH demonstrated EBV-infected T cells, including NK cells, but not B cells. In addition, three cases showed a monoclonal dissemination of EBV terminal repetitive sequence (TR), and two cases showed oligoclonal dissemination. From those findings, monoclonal, oligoclonal and polyclonal populations of EBV-infected T or NK cells were considered to be present in CAEBV states. During the clinical course, 12 of the 14 cases died within 5 years. Six cases died from EBV-associated hematopoietic tumors (histiocytlc tumor, T cell lymphoma, B cell lymphoma, plasmacytoma, and NK cell leukemia); one from non-EBV-associated acute myeloge-nous leukemia, and five due to hemophagocytic syndrome. The examined EBV-associated hematopoietic tumors showed monoclonal EBV terminal repetitive sequences. There is a possibility that the monoclonal dissemination of EBV-infected cells develops from oligoclonal or polyclonal EBV-infected cells. And active histlocytes with lymphokine positivity were frequently detected In the cases with histologically histiocytic type. These findings seem to be related with the causes of death due to hemophagocytic syndrome.     

羊膜带综合征伴多发畸形一例并文献复习

目的探讨羊膜综合征的诊断及临床特征。方法对1例羊膜带综合征病例进行分析，结合文献讨论该综合征的临床表现、临床特点。结果本例主要表现颅骨缺损，重度唇腭面裂，脊柱侧弯，腹壁缺损但无内脏彭出，肢体截断等畸形。结论羊膜带综合征的特点为多发畸形，每例均有不尽相同的临床表现。     

Proposed categorization of pathological states of EBV-associated T/natural killer-cell lymphoproliferative disorder (LPD) in children and young adults: overlap with chronic active EBV infection and infantile fulminant EBV T-LPD

EBV-associated T/natural killer (NK)-cell lymphoproliferative disorder (EBV-T/NK LPD) of children and young adults is generally referred to with the blanket nosological term of severe chronic active EBV infection (CAEBV). This disease is rare, associated with high morbidity and mortality, and appears to be more prevalent in East Asian countries. But because there is no grading or categorization system for CAEBV, pathologists and clinicians often disagree regarding diagnosis and therapy. EBV-T/NK LPD includes polyclonal, oligoclonal, and monoclonal proliferation of cytotoxic T and/or NK cells. Moreover, a unique disease previously described as infantile fulminant EBV-associated T-LPD has been identified and overlaps with EBV-T/NK LPD. In the present review a clinicopathological categorization of EBV-T/NK LPD is proposed, based on pathological evaluation and molecular data, as follows: (i) category A1, polymorphic LPD without clonal proliferation of EBV-infected cells; (ii) category A2, polymorphic LPD with clonality; (iii) category A3, monomorphic LPD (T-cell or NK cell lymphoma/leukemia) with clonality; and (iv) category B, monomorphic LPD (T-cell lymphoma) with clonality and fulminant course. Categories A1, A2, and A3 possibly constitute a continuous spectrum and together are equivalent to CAEBV. Category B is the exact equivalent of infantile fulminant EBV-associated T-LPD. It is expected that this categorization system will provide a guide for the better understanding of this disorder. This proposal was approved at the third meeting of the Asian Hematopathology Association (Nagoya, 2006).     

Edwards—Klinefelter综合征一例报告并文献复习

目的提高对Edwards—Klinefelter综合征的认识。方法报告我院1例和分析迄今文献报道的13例活产Edwards—Klinefeher综合征患儿的临床资料。结果14例Edwards—Klinefelter综合征患儿中,本例及12例文献报告孕母年龄为21～45岁,中位年龄为23岁。除1例临床资料不详,本例及文献报道12例为小于胎龄儿,并具有18一三体综合征的临床表现,如头面部异常、双手紧握、先天性心脏病等。14例Edwards—Klinefelter综合征患儿,1例死亡时间不详,生后1W内死亡4例,3例生后10—18天死亡,4例生后1月～4月龄死亡,本例存活超过1月失访,1例存活超过21个月。结论Edwards—Klinefelter综合征的发生可能与孕母年龄关系不大,孕期可有宫内发育迟缓且具有18一三体综合征的临床表现。     

The wrinkly skin syndrome: a report of a case and review of the literature

A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagnosis.     

Trisomy 9q3 syndrome: a case report and review of the literature

A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high-resolution analysis revealed the karyotype to be: 46,XX,-3,+ der(3)t(3;9)(q29;q13) de novo. A phenotype-karyotype correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.     

Amyloidosis secondary to chronic pulmonary aspergillosis: Case report and a systematic review of literature

Secondary amyloidosis results from the deposition of abnormally folded proteins in body organs due to chronic inflammatory disorders. Kidneys are the most commonly affected organ and manifest as nephrotic syndrome with or without renal failure. Chronic pulmonary aspergillosis (CPA) is a chronic infection of lung parenchyma affecting those with an underlying structural lung disease. Herein, we present a case of CPA where the initial manifestation was that of nephrotic syndrome due to renal amyloidosis. We also perform a systematic review for studies describing secondary amyloidosis due to CPA.     

Virus-associated hemophagocytic syndrome related to acute CMV and HBV sexual co-infection: A case report

BackgroundSecondary or reactive hemophagocytic syndrome is frequently related to viral infections and is named Virus-Associated Hemophagocytic Syndrome (VAHS). Cytomegalovirus (CMV) has been associated with hemophagocytic syndrome in healthy subjects, patients with inflammatory bowel diseases rheumatologic diseases, and transplant recipients. CMV and hepatitis B virus (HBV) can be sexually transmitted. However, co-infection with these viruses has never been reported and the clinical follow-up after acute HBV–CMV infection is not known.ObjectivesTo report on the first case of a VAHS related to acute CMV and HBV co-infection probably acquired after sexual contact.Study designA 47-year-old woman, with no past medical history, complaining of severe asthenia, pneumonia, myalgia, and high fever, was hospitalized for the first time on July 5, 2008. During 20 days, her CMV viral load and HBV DNA were monitored.ResultsTen days after her hospitalization, all signs and symptoms worsened. Twenty days after hospitalization, the patient had a natural recovery from acute HBV infection and a rapid clearance of CMV infection. Three weeks later, the patient was discharged without any complaints.ConclusionThis report points out the etiological role of CMV and HBV co-infection in VAHS due to probable sexual transmission.     

Sick sinus syndrome associated with hypopituitarism：a case report and literature review

Though an association between autoimmune diseases and sick sinus syndrome has been reported,there has been no report on the association of hypopituitarism and sick sinus syndrome.Herein,we provide the first case report of hypopituitarism accompanying sick sinus syndrome in a 51-year-old woman presented to our hospital with syncope due to cardiac arrest.The patient was successfully managed by pacemaker installation and hormone replacement therapy.