Neu-Laxova Syndrome: Pathological Evaluation of a Fetus and Review of the Literature

Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intra-uterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypo-plastic or atelectatic lungs, limb deformities, edema, polyhydramnios, and short umbilical cord. Abnormal facial features include sloping forehead, hypertelorism, severe ectropion, proptosis, malformed ears, flat nose, and micrognathia. A necropsy study of a male infant with Neu-Laxova syndrome is described. Cleft palate and ambiguous external genitalia were present in addition to anomalies characteristic of Neu-Laxova syndrome. The clinical manifestations are compared with those of the 40 previously reported cases.     

Sleep and Breathing Abnormalities in a Case of Prader-Willi Syndrome: The Effects of Acute Continuous Positive Airway Pressure Treatment

ABSTRACT. This report describes the polysomnographic findings and the respiratory alterations during sleep in a 20-year-old patient with the Prader-Willi syndrome. Nocturnal recordings and a variant of the multiple sleep latency test showed excessive daytime sleepiness, sleep onset rapid eye movement episodes, snoring and sleep apnea. Treatment with nasal continuous positive airway pressure normalized the respiratory pattern and the sleep structure, except for rapid eye movement sleep onset. Whereas upper airway obstruction and obesity may explain the respiratory disorders, as shown by their resolution with continuous positive airway pressure treatment, hypothalamic dysfunction could play a role in the disruption of the normal nonrapid eye movement/rapid eye movement sleep periodicity.     

Bilateral Femoral Hypoplasia and Maternal Diabetes Mellitus: Case Report and Review of the Literature

The case of a 21-week fetus with bilateral femoral hypoplasia and bowing related to maternal diabetes mellitus is reported. The femoral middiaphysis (site of hypoplasia and bowing) showed intramembranous ossification instead of the normal endochondral ossification, thus pointing to a transient inhibition of chondrogenesis of the mesenchymal femoral model as the causative mechanism. This finding is correlated with the recent experimental advances in the field of limb development in vertebrates.     

Gastrointestinal Malformations Associated with Prune Belly Syndrome: Three Cases and a Review of the Literature

Prune belly syndrome (PBS), a triad consisting of abdominal musculature hypoplasia, urinary tract malformations, and cryptorchidism, is frequently associated with other congenital malformations. Although it is acknowledged that gastrointestinal (GI) malrotation and mesenteric anomalies are frequent in PBS, other GI anomalies are generally considered to be exceedingly rare. Here we describe 3 autopsy cases with severe malformations of both midgut and hindgut derivatives and review the world literature to evaluate the spectrum of GI malformations associated with this syndrome. The relatively high frequency of distal stenoses and atrcsias suggests that the anomalous mesenteric attachments may predispose to prenatal volvulus and subsequent anatomic bowel obstruction. Postnatal volvulus is also occasionally observed. Infants with PBS also appear to be at a higher risk for persistence of the common fetal cloaca.     

Fanconi-Bickel综合征1例并文献复习

目的 分析Fanconi- Bickel综合征的临床表现、实验室特征、影像学表现及DNA直接测序结果,探讨其诊断及鉴别诊断,提高儿科医师对该病的认识.方法 报道中国首例Fanconi- Bickel综合征患儿,对其症状、体征、个人史、实验室检查及基因测序结果进行描述,评价对症治疗3个月后疗效,并结合文献复习对Fanconi - Bickel综合征进行分析.结果 本例为2岁女性患儿,存在严重的生长发育落后、腹胀,体检及影像学检查发现幼稚面容、肝大及佝偻病,实验室检查证实患儿存在低磷性佝偻病、近端肾小管酸中毒,餐前低血糖及餐后高血糖,尿中存在蛋白、氨基酸及糖.DNA直接测序提示内含子8+5的位置纯合G＞C剪切突变.经过3个月对症支持治疗,患儿可独自站立及扶物行走,复查碱性磷酸酶(ALP) 430 U·L-1,空腹血糖3.7mmol·L-1.影像学检查示双手、双足手足镯及串珠肋逐渐消失.结论 对于存在近端肾小管酸中毒同时存在低血糖、佝偻病、氨基酸及蛋白尿的患儿,应考虑Fanconi- Bickel综合征,早期诊断和治疗,可改善患儿生长发育落后、佝偻病等临床症状,提高患儿的生活质量.     

Short Rib-Polydactyly Syndrome Type II (Majewski Syndrome): A Case Report

The Majewski type of Short Rib-Polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. The full range of associated anomalies remains to be described. This case report details the clinical and autopsy findings in this condition and reviews the differential diagnosis of polydactylous dwarfing syndromes.     

甲状旁腺功能减低-感音神经性耳聋-肾发育不良综合征1例及文献复习

目的探讨甲状旁腺功能减低-感音神经性耳聋-肾发育不良(HDR)综合征诊断和治疗措施。方法对1例HDR综合征患儿的临床、实验室资料及诊疗过程进行分析,并复习相关文献。结果患儿以听力减退、手足搐搦为主要表现,查体有面神经征及陶瑟征阳性。多次查血钙均低于正常,甲状旁腺激素(PTH)为正常值低限,ALP正常。电测听显示感音性神经性耳聋。腹部CT示右侧肾脏缺如,肌酐清除率下降。入院后予补充钙剂及维生素D治疗,病情好转。结论应提高对本病的认识,对怀疑甲状旁腺功能降低的患儿及其家庭成员应行肾脏影像学及听力检查,避免漏诊。     

原发性抗磷脂综合征并扩张型心肌病1例报告并文献复习

目的对1例以胸闷、乏力、水肿及少尿等心力衰竭症状为主要表现的患儿进行诊断及治疗。方法根据患儿症状、体征、既往病史、辅助检查结果及文献资料分析进行确诊,并予相应治疗。结果患儿以心力衰竭的症状为主要表现,查体有体、肺循环淤血体征,超声心动图及心脏磁共振检查发现患儿存在心脏扩大及心功能低下,且存在心肌纤维化,可确诊为扩张型心肌病,结合既往有烟雾病史,且多次血常规检查存在血小板减少,且抗心磷脂抗体、狼疮抗凝物及抗-β2糖蛋白Ⅰ抗体均为阳性,患儿可确诊为抗磷脂综合征(APS)。可排除存在系统性红斑狼疮、肿瘤及常见病毒感染,因此考虑患儿同时为原发性抗磷脂抗体综合征(PAPS)患者。予免疫抑制剂及抗凝治疗后患儿病情有好转。结论PAPS可并扩张型心肌病,虽然比较少见,但是应当提高认识,以防漏诊。     

Cryptophthalmia Syndrome with Laryngeal Atresia and Bilateral Renal Agenesis: A Case Report and a Review of the Literature

Abstract An autopsy case of the unilateral cryptophthalmia syndrome was presented, showing the lack of the eyelids formation on the right and the facial skin being continuous over the right eye. Potter's face, partial cutaneous syndactyly, clitorial hypertrophy, bilateral renal agenesis and absence of uterus were associated, and further laryngeal atresia was noted, leaving a small posterior opening and allowing a survival of only 10 min at birth. Histologic analysis of the right eye revealed that the cyst in the anterior segment was formed by the destruction of the lens itself. The pathogenesis of cryptophthalmia and laryngeal atresia was discussed.     

INFANT ANAPLASTIC LYMPHOMA: Case Report and Review of the Literature

Anaplastic large cell lymphoma (ALCL) is a well-known entity, but there are no data on prognosis according to the age of the patient, especially in infants. A 2-month-old girl was admitted with a 2-week history of coughing, fever, and lymphadenopathy. Physical examination revealed mild respiratory distress, an erythematous macular rash on her trunk, massive cervical lymphadenopathy, splenomegaly, and very mild ascites. Chest radiograph showed bilateral pulmonary infiltrates, pleural effusion, and a mediastinal mass. CBC count showed WBC: 172,000/μL (PMN 40%, lymphocytes 47%, monocytes 3%); hemoglobin concentration: 8.7 g/dL; platelets: 390,000/μL. Cervical lymph node biopsy revealed anaplastic lymphoma with positive staining to ALK 1 and TIA 1. Immunophenotypic analysis of peripheral and bone marrow lymphoid cells showed an aberrant T-cell immunophenotype, including expression of CD3, CD45R0⁺, CD43⁺, and CD30⁺. Cytogenetic analysis performed on blood and bone marrow samples demontrated the translocation t(2;5) (p23;q35), and trisomy 47. After leucophoresis, the child received chemotherapy according to the ALCL-99-EICNHL protocol, and was started on corticosteroids and cyclophosphamide, which resulted in marked improvement. After the second course, WBC decreased to 6000/μL without tumor lysis syndrome, but the child developed bacterial and fungal disseminated infections and died of septic shock with multiorgan failure. This report is of a rare case of infant anaplastic lymphoma and excellent response to treatment. Unfortunately, she did succomb to overwhelming infection. More reports of similar cases may determine the cause and prognosis of such children, helping to tailor therapy according to the age of the child and other prognostic factors, especially bone marrow involvement.     

Congenital Humero-radio-ulnar Synostosis with Constriction Ring and Flexion Contracture of the Fingers: A Case Report

ABSTRACT Congenital humero-radio-ulnar synostosis (HRUS) is a rare malformation. Some cases are hereditary in origin and some are sporadic. We report on a sporadic case of HRUS.
A patient with HRUS is described who had constriction ring on the left upper limb and flexion contracture of the wrist joint and fingers. There was no range of motion nor crease at the elbow joint. Hypoesthesia was noted at the distal part of the ring of the upperarm as she did not respond to pin-prick. But circulatory failure like cyanosis or congestion was not seen on the extremity. No operation was performed to release the constrictive ring because it was not so deep. Only splint was applied to correct flexion contracture of the thumb, middle finger and ring finger. Three months later, examination of the thumb and fingers showed full extention. The sense to pain by pin-prick has been improved as the ring on the upperarm shallowed. A minor ischemic change may have been caused by the ring and followed by the contracture and the sensory disturbance. Synostosis also may have been related with the ring.     

Parathyroid Peliosis: Report of a Case and Review of the Literature

Peliosis most commonly affects the liver and spleen and has been associated with exogenous and endogenous steroid hormones, particularly of the anabolic type. The finding of peliosis of the parathyroid glands, as well as of the liver, in an infant with adrenogenital syndrome indicates that other organs may be affected.     

Congenital Cns Primitive Neuroectodermal Tumor: Case Report and Review of the Literature

A 30-week gestational age male fetus was found to have a congenital neoplasm involving the posterior cranial fossa, identified by fetal ultrasound examination in utero. Histological and immunohistochemical examination confirmed a diagnosis of primitive neuroectodermal tumor (PNET) of the posterior fossa, also referred to as medulloblastoma. Although PNETs have been well documented, there are relatively few reports of these occurring as congenital neoplasms. We present a case of an in utero, congenital PNET with a review of the literature and discussion of the criteria defining congenital tumors.     

Malignant Mesenchymoma Associated with a Congenital Lung Cyst in a Child: Case Report and Review of the Literature

Primary lung tumors are uncommon in children, and malignant mesenchymal tumors form only a small proportion of these. Leiomyosarcomas occur more commonly than rhabdomyosarcomas, whereas malignant mesenchymomas are exceedingly rare. Of the total number of primary pulmonary rhabdomyosarcomas and malignant mesenchymomas of lung reported in children, 50% have occurred in association with congenital lung cysts. The relationship between abnormal morphogenesis and neoplasia is well documented in the kidney. A similar relationship may exist in the lung between cystic parenchymal maldevelopment and embryonal mesenchymal tumors. We report a 4-year-old boy with a malignant mesenchymoma of lung arising within a congenital lung cyst; one similar case has previously been reported to our knowledge.     

Monozygotic Twins Concordant for Congenital Neuroblastoma: Case Report and Review of the Literature

To date, five sets of monozygotic twins concordant for neuroblastoma have appeared in the literature. Review of the clinical information available for these cases suggests that they represent congenital, versus acquired, diseases in both twins from each twin pair. The question arises, then, whether some or all sets of twins represent simultaneous-onset malignancy of both twins within a twin pair or whether metastasis via placental anastomoses from one twin with congenital disease to the cotwin occurs. This report includes a sixth set of monozygotic twins concordant for congenital neuroblastoma. From analysis of the clinical data from all cases, it appears that two of six twin pairs may represent simultaneous-onset tumors in each twin from a twin pair, and two of the remaining four twin pairs, including the present case, may represent placental metastases from one twin with congenital neuroblastoma to the other. In the remaining two twin pairs insufficient data are available upon which to draw any conclusions. Now that molecular and genetic methodology is available to characterize neuroblastomas, these techniques may be utilized in future cases of monozygotic twins concordant for congenital neuroblastoma, to help clarify whether the neoplasms represent simultaneous primary tumors versus metastatic spread from one twin to another.     

Bilateral Ulnar Agenesis: Case Report and Review of the Literature

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann—de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann—de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis.     

Strangulation of the Umbilical Cord by Amniotic Bands: Report of 6 Cases and Literature Review

The amniotic band syndrome is the triad of amnion-denuded placenta; fetal attachment to or entanglement by amniotic remnants; and fetal deformation, malformation, or disruption. Theories of pathogenesis and etiology of the syndrome are discussed.

Amniotic bands occur in 1 of every 5000-15,000 births and are demonstrable in 1-2% of malformed infants. Nearly 10% of cases include umbilical cord strangulation. Six cases of umbilical cord strangulation by amniotic bands are presented, and 57 previously reported cases are reviewed. Two of the 63 were liveborn and 61 were stillborn, 3 of whom died intrapartum. Thirty had associated fetal abnormalities. Five were from multiple gestations. Outcome of the co-twin was determined by its presence within the same amniotic sac. Four fetuses beyond 28 weeks had short cords and were the only malformed fetuses in this age group. The earlier in gestation that amniotic bands form, the greater the likelihood of associated fetal abnormalities. All but 2 of 28 less than 32 weeks and only 4 of 35 greater than 32 weeks were malformed. A marked male predominance was noted in the former group, perhaps because the larger size and/or more vigorous movements of male fetuses promote early amnion rupture.