TEMPORARY DYSPLASTIC HEMATOLOGICAL FEATURES DUE TO IRON DEFICIENCY IN A CASE OF POLAND SYNDROME

Poland syndrome has been sporadically associated with hematological conditions, primarily acute leukemias. The authors report a child with this syndrome coexisting with temporary hematological dysplasia due to iron deficiency. Further hematological evaluation failed to demonstrate malignancy. Because of its premalignant nature, in patients with Poland syndrome, hematological dysplastic features should be an indication for further investigation. However, in addition to the well-known hematological malignancies, treatable causes may be responsible.     

POLAND SYNDROME WITH INTRACRANIAL GERM CELL TUMOR IN A CHILD

Poland syndrome is an uncommon unilateral deformity of chest wall and upper extremity with variable manifestations. Although numerous case reports of Poland syndrome associated with malignancies have been published, intracranial germ cell tumor in Poland syndrome has not been previously reported. The authors describe a 15-year-old male patient with intracranial germ cell tumor and Poland syndrome.     

Eventration of the diaphragm and associations

Eventration of the diaphragm, most often an isolated entity, and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.     

Radiological aspects of the Poland syndrome and implications for treatment: a case study and review

Poland syndrome (PS) (OMIM 173800) is a rare congenital anomaly classically consisting of the combination of unilateral aplasia of the sternocostal head of the major pectoral muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. The aetiology is most probably a vascular disruption sequence of the subclavian arteries. In most cases, PS is sporadic. Familial occurrence suggests that genes exist which are involved in the pathogenesis as paradominant traits. The syndrome may include mammary hypoplasia and further muscle abnormalities which can be accurately defined by sonography and MRI. The evaluation of the vascular status can be performed using colour coded duplex sonography for peripheral arteries and contrast-enhanced MR-angiography for supra-aortic arteries. CONCLUSION: We report a 7-year-old girl with unilateral right sided Poland syndrome with particular emphasis on the radiological investigations of vascular abnormalities. A review of the literature concerning the origin, outcome, and implications for treatment is given.     

Neuroblastoma and Poland syndrome in a 15-year-old boy

A 15-year-old boy with neuroblastoma associated with Poland syndrome is presented. He was admitted with a 2-month history of progressive back pain and a 3-day history of weakness of the lower extremities, encopresis and enuresis. On physical examination, in addition to paraplegia, absence of the pectoralis major muscle was diagnosed on the right side of his chest. A large heterogeneous mass in the right side of the thorax was revealed on computerized tomography. Neuroblastoma was diagnosed on histopathological analysis of the mass. To the authors' knowledge this is the first case of neuroblastoma associated with Poland syndrome in the literature.     

A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus

Poland syndrome has been reported to be associated with true dextrocardia, but not with true situs inversus. In this report, we describe the first patient with total situs inversus in medical literature and try to highlight the syndrome's probable etiology and pathogenetic mechanisms in utero.     

Successful outcome of allogeneic stem cell transplantation in Seckel syndrome

Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders. We report the case of a six‐yr‐old boy with Seckel syndrome and aplastic anemia who underwent successful allogeneic bone marrow transplantation from ten of ten HLA matched unrelated donor. Currently the patient is on D+771, in good health conditions and with no further complications. In conclusion, this case indicates that bone marrow transplantation is an acceptable therapeutic option for Seckel syndrome complicated by hematological alterations.     

儿童130例人巨细胞病毒感染的血液学有关表现

目的探讨儿童人巨细胞病毒(humancytomegalovirus,HCMV)感染的血液学表现。方法回顾性分析130例人巨细胞病毒感染患儿的临床特征、血象、骨髓象和免疫学指标的变化及治疗和转归。结果130例中有64例出现外周血象的改变(49·2%)。其中贫血46例(35,4%),血小板减少35例(26·9%),粒细胞减少4例(3·1%),全血细胞减少5例(3·8%),外周血出现异型淋巴细胞11例(8·5%)。29例出现血液系统并发症(22·3%),包括传染性单核细胞增多综合征、特发性血小板减少性紫癜(ITP)、自身免疫性溶血性贫血(AIHA)、病毒相关性噬血细胞综合征(VAHS)等。部分行免疫功能检查的患儿中,27·5%的病人存在体液免疫异常,71·4%存在细胞免疫异常。结论儿童是HCMV感染的易感人群。HCMV几乎可以感染人体所有组织,造血系统受累,可引起多种造血功能紊乱,甚至发生多种CMV感染相关性血液系统疾病。早期足疗程地应用更昔洛韦,配合对症、支持、免疫调节等综合治疗,可明显提高疗效。     

Poland syndrome: description of two patients in the same family

Poland syndrome is a congenital condition that consists of the unilateral absence of the large pectoral muscle, ipsilateral sympbrachydactyly, and is occasionally associated with other malformations of the anterior chest wall and breast. The aetiology of Poland's syndrome is unknown, although it is believed to be caused by an interruption or reduction in the embryonic circulation during pregnancy, and the majority of reported cases are sporadic. Only in a few instances there is a familial incidence. We describe the occurrence of Poland's syndrome in two cousins and the malformation is mainly in the large pectoral muscle.     

A case of myelodysplastic syndrome complicated by pulmonary alveolar proteinosis with a high serum KL-6 level.

Serious hematological diseases often cause respiratory disorders. Because these are related to the prognoses of patients with hematological diseases, their early diagnosis is necessary. This study describes a 6-year-old girl with myelodysplastic syndrome complicated by pulmonary alveolar proteinosis who showed a remarkable increase in her serum KL-6 level. Three years and 2 months after the end of therapy for neonatal melanoma, a diagnosis of myelodysplastic syndrome with leukemic change was made. Ten months after the onset of leukemia, she had respiratory distress with an increased serum KL-6 level of 75,000 U/mL (reference range; < 500 U/mL). Despite various treatments for pulmonary complications, she died 3 months after developing respiratory distress. A diagnosis of pulmonary alveolar proteinosis was made at autopsy. Earlier treatment of respiratory distress could be achieved if serum KL-6 levels were examined earlier.     

A newborn with Poland anomaly and liver ectopy: an unusual association with important prognostic implications.

Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand deformity and can include a spectrum of anomalies from a complete absence of the pectoralis major and minor, amastia, severe rib abnormalities, and absence of the hand, to minor hand abnormalities and isolated pectoralis minor aplasia. The etiology is unknown, but speculation includes hypoplasia of the subclavian artery or its branches between the 6th and 7th week of gestation. We report a newborn girl with Poland syndrome and an unusual associated anomaly consisting of ectopic liver tissue forming a chest wall mass. This association carries significant implications for oncologic awareness, prognosis, and counseling.     

Calcification of the gastric mucosa associated with tumor lysis syndrome in a child with non-Hodgkin lymphoma

Tumor lysis syndrome (TLS) is an important complication associated with hematological malignancies leading to increased morbidity and mortality. Metastatic calcification due to calcium phosphate crystals precipitated in soft tissues is rarely encountered in TLS. We describe a child with non-Hodgkin lymphoma who had gastric mucosal calcification related to severe hyperphosphatemia due to TLS. Upper-gastrointestinal endoscopic examination performed because of abdominal complaints revealed diffuse mucosal white lesions in mucosa of the gastric antrum and corpus. Pathological examination of the mucosa of the gastric corpus showed marked calcification in the lamina propria. We suggest that calcification in mucosa of the gastric corpus may be seen in patients with TLS. We also suggest that gastric mucosal calcifications should be considered in patients with hematological malignancies from TLS.     

Transient neonatal myeloproliferative disorder in the absence of Down syndrome

Transient neonatal leukemia or transient neonatal myeloproliferative disorder is commonly associated with Down syndrome. It usually resolves spontaneously in 4-5 months. However, 25 % of patients will subsequently develop acute megakaryoblastic leukemia or myelodysplastic syndrome. It has seldom been described without constitutional anomalies and is even less frequent in twins. We present three phenotypically normal patients with this disorder. One of them was diagnosed because he presented blueberry muffin syndrome. Diagnosis was guided by pathological examination of the skin lesions. The other two patients were monochorionic triplets. Their bichorionic sister presented no hematological disorders. Constitutional chromosomal abnormalities were ruled out in all three patients. They received support treatment only without chemotherapy. The clinical course was favorable with disappearance of marrow and peripheral blastosis in 4-5 months. Follow-up of 18 and 19 months has not revealed any hematological disorders. Caution must be exercised before initiating chemotherapy in these patients. We discuss the differential diagnosis with congenital leukemia and the prognostic and therapeutic implications that this entails.     

Translocation-positive acute myeloid leukemia associated with valproic acid therapy

Valproic acid is an effective anti-epileptic medication often used for long-term control of seizure disorders that has been implicated in hematological toxicities, including rare reports of myelodysplasia and acute leukemia. Here, we report a case of valproic acid-related leukemia-like syndrome with a t(8;16) chromosomal translocation. After discontinuing valproic acid, the hematological findings completely resolved.     

MonoMAC 综合征

MonoMAC 综合征为新近发现的一种免疫缺陷综合征,是由GATA-2 基因突变所致的常染色体显性遗传病。MonoMAC 综合征有典型的免疫细胞异常,常伴有严重的感染,易转化为恶性血液系统疾病。该病目前主要依靠对症治疗及造血干细胞移植。该文对MonoMAC 综合征的临床表现、实验室检查、发病机制及诊断和治疗的研究进展进行综述。     

182例小儿传染性单核细胞增多症的血液学表现

目的 探讨传染性单核细胞增多症(传单)的血液学表现。方法 回顾性分析182例小儿传染性单核细胞增多症血液学的临床表现。结果 126例出现血液学表现(69.2％),及38例血液系统并发症(20.9％)。主要有外周血异型淋巴细胞大于10％(61.5％),贫血(15.9％),粒细胞减少症(15.4％),血小板减少症(9.9％),溶血性贫血(1.1％),Evans综合症(0.6％),类白血病反应(4.4％),全血细胞减少(0.6％),恶性组织细胞病(0.6％)。结论 传单可引起各种各样血液学并发症,临床应高度重视。     

Hermansky-Pudlak syndrome. Apropos of a case

A new case of Hermansky-Pudlak syndrome is reported. Clinical, ophthalmological, hematological and dermatological explorations are all described in detail, with emphasis placed on the risks of non-recognition of the syndrome. The ocular albinism is associated with a cutaneous syndrome of highly variable expression and a thrombopathy generally without frank clinical consequence. The quasi spontaneous meningeal hemorrhage noted in this case is unusual. Literature data on this syndrome is reviewed and its main features are described.     

Thrombocytopenia with bilateral absence of the radius (TAR syndrome). Reports of 2 clinical cases

Thrombocytopenia with bilateral absent radii (TAR syndrome) is a hereditary condition with a recessive autosomic character. It is characterised by a series of hematological, skeletal and cardiac alterations, and also by various clinical manifestations. The frequency of this syndrome is very low. During the first months of life, prognosis is related to the severity of hemorrhage, but it improves after two years. Diagnosis is at times complex owing to the similarity between this and other syndromes. Therapy, especially during the first year of life, is based on blood transfusion. The paper describes clinical findings in two subjects admitted to the Istituto di Clinica Pediatrica. The two cases presented diverse degrees of hematological and skeletal involvement and followed different clinical evolutions.     

Thrombocytopenia with absent radii. A review of 100 cases

The syndrome of thrombocytopenia with absent radii (TAR) is a rare congenital syndrome in which the characteristic hematological findings are hypomegakaryocytic thrombocytopenia, periodic leukemoid reactions, and eosinophilia. The thrombocytopenia usually presents at birth or during the neonatal period and may be profound, accounting for significant morbidity. However, resolution of the thrombocytopenia usually occurs after the first year. In this review of 100 cases, the clinical manifestations, pathophysiology, genetics, and treatment are discussed in detail. With the increased understanding of the natural history and pathophysiology of the hypomegakaryocytic thrombocytopenia in the TAR syndrome, in conjunction with the advances in supportive therapy discussed, the outlook for patients with this syndrome has become quite good.     

Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report

One patient with a chromosome 22q11.2 deletion and Evans syndrome is reported in this paper. Microdeletions of 22q11.2 are the main etiology for DiGeorge syndrome, a disorder characterized by heart defects, immune deficiencies due to aplasia or hypoplasia of the thymus, and hypocalcemia. Evans syndrome refers to a hematological autoimmune disorder with autoimmune hemolytic anemia accompanied by immune thrombocytopenia. A wide range of autoimmune disorders have been described in DiGeorge syndrome and velocardiofacial syndrome, including one prior report of autoimmune hemolytic anemia and immune thrombocytopenia. The patient reported herein strengthens the association between the 22q11.2 deletion spectrum and Evans syndrome.