Clinical and Histopathological Study of Merosin-deficient and Merosin-positive Congenital Muscular Dystrophy

The clinical features of merosin-positive congenital muscular dystrophy (CMD) and merosin-deficient CMD are well known, with those of merosin-deficient CMD being more severe. Whether the severity of histopathological findings correlates with these clinical features remains unanswered. In this study, the clinical and histopathological findings of 39 merosin-deficient and 37 merosin-positive CMD patients were compared. Merosin-deficient CMD patients were found to be younger, with earlier onset of symptoms, age of diagnosis, and a more severe clinical state (reflecting maximum motor capacity and contractures). On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD. There was a correlation between clinical and histopathological states only in merosin-deficient CMD. Received January 15, 1999; accepted April 7, 1999.     

Arthrogryposis Multiplex Congenita, Pena-Shokeir Phenotype, with Gastroschisis and Agenesis of the Leg

A young mother had a stillborn infant at 33 weeks' gestation, the pregnancy complicated by polyhydramnios. The parents were unrelated, healthy, and both had a normal karyotype. The infant had multiple malformations such as ankylosis, facial anomalies, and pulmonary hypoplasia. A severe gastroschisis and agenesis of the right leg were also present. The neuropathologic findings were those of marked atrophy of anterior horn motor cells in the spinal cord and neurogenic muscle atrophy. This is a case of Pena-Shokeir syndrome with two additional features: gastroschisis and agenesis of the right leg. This syndrome represents a lethal form of arthrogryposis multiplex congenita, and the essential neuropathologic findings are marked reduction in the number of spinal motor cells and neurogenic muscle atrophy.     

Arthrogryposis multiplex congenita‐like syndrome associated with median cleft lip and palates: First prenatally detected case

An early second‐trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita‐like syndrome associated with median clefts is reported. A molecular biological work‐up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to confirm the ultrasound diagnosis. Prenatal diagnosis enabled early detection of multiple fetal malformations, thus allowing early termination of pregnancy. Moreover, three‐dimensional ultrasound with volume rendering in the maximum surface mode demonstrated its value in diagnosing oro‐facial clefts, even at an early stage of fetal development.     

Limb Congenital Fibrosarcoma: Report of Two Cases and Review of the Literature

Two cases of limb congenital fibrosarcoma are reported. The use of postsurgery chemotherapy allowed conservative surgery in one of them. Wide local excision appears to be the treatment of choice unless the size of the tumor and its anatomic location requires amputation. Additional chemotherapy could shift the surgical approach to one of less radical surgery.     

Congenital Intraspinal Lipomas: Histological Analysis of 234 Cases and Review of the Literature

The clinical, radiologic, and pathologic data from a series of 234 patients hospitalized in the Pediatric Neurosurgical Department of the Necker–Enfants Malades Hospital, Paris, for congenital intraspinal lipomas and operated on from 1976 to 1995 were examined. Histological studies showed that these lesions may be simple lipomas, similar to those developing elsewhere in the body, or they may be more complex forms including in addition to the lipomatous component a variety of unusual ectopic tissues of ectodermal, mesodermal, and/or endodermal origin. These complex forms indica te the malformative nature of these tumors. When they contain elements that are truly foreign to the region, the possibility of teratoma with a tumoral potential should be considered. Data found in the literature and from Necker–Enfants Malades Hospital are discussed. Received November 28, 1997; accepted September 4, 1998.     

Neonatal Ovarian Torsion: Report of Three Cases and Review of the Literature

Ovarian cysts are common incidental findings in term infants and, if unusually large, may result in dystocia, torsion, or rupture. Torsion and infarction of a normal ovary tend to occur in older childhood. During a 4-month period, 3 cases of neonatal ovarian torsion were observed after antenatal ultrasonography had detected fetal pelvico-abdominal cystic lesions. The three infants were explored between 4 and 16 days of age. Ovarian torsion was right-sided in all 3, and 1 ovary had been autoamputated. The resected specimens were nontense, thin-walled cysts, filled with hemorrhagic fluid, that measured between 4.5 and 8 cm in diameter. Microscopically, focal calcification and widespread necrosis precluded recognition of underlying histologic landmarks. Neonatal ovarian cysts or cystic ovaries greater than 4 cm in diameter should be excised, even if asymptomatic, because they are prone to, or have undergone, torsion.     

Congenital Muscular Ventricular Septal Aneurysm: Report of Four Cases and Review of the Literature

We describe a rare association between congenital muscular ventricular septal aneurysm (MuVSA) and right heart lesions, with emphasis on echocardiographic diagnosis, clinical presentation, and outcome. Our four cases of MuVSA occurred in combination with either pulmonary atresia with intact ventricular septum (PAIVS; three patients) or absent pulmonary valve syndrome with severe tricuspid stenosis (one patient). MuVSA and right heart lesions were detected in utero in three patients. The three patients with PAIVS and MuVSA survived with no significant morbidity from the septal aneurysm at 3- to 5-year follow-up. The presence of MuVSA did not negatively affect the outcome of our patients.     

Anomalies of the Brain and Congenital Heart Disease: A Study of 52 Necropsy Cases

During routine autopsy examinations several macroscopic anomalies of brains were noted in children with congenital heart disease (CHD). To define these observations 52 autopsies of cases with CHD as well as 52 controls were compiled. Cases were divided into two groups according to the absence (group I) or presence (group II) of a multimalformative syndrome (MMS). Fifty percent of the sample was associated with MMS. Brain anomalies were classified into grades I, mild and focal; II, intermediate, focal or diffuse; and III, severe and diffuse. Group I was associated with brain anomalies (mainly of grades I and II with altered gyri) in 19 of 28, whereas in Group II the brains frequently had compromise of lobes, gyri, and fissures, 18 of 24. The relationship between the types of CHD, grade of brain anomalies, and MMS is delineated. The high frequency of brain anomalies associated with CHD but without other malformations (67.8%) suggests a clinical counterpart of these lesions.     

Histiocytoid Cardiomyopathy: Three New Cases and a Review of the Literature

Histiocytoid cardiomyopathy (HC), a rare arrhythmogenic disorder, presents as difficult-to-control arrhythmias or sudden death in infants and children, particularly girls. Three cases are described with autopsy findings. In two cases, yellow-tan nodules were grossly visible in the myocardium; in the third case, no gross lesions were identified. Microscopic examination in all three cases revealed multiple, scattered clusters of histiocytoid myocytes which on ultrastructural examination were filled with abnormal mitochondria, scattered lipid droplets, and scanty myofibrils. These pathologic findings are similar to those previously described. The pathogenesis of this entity remains controversial. It was recently proposed that this disorder is X-linked dominant with the associated gene located in the region of Xp22. Received October 7, 1996; accepted April 17, 1997     

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.     

Congenital Nephrosis of the Finnish Type: Overview of Placental Pathology and Literature Review

Congenital nephrosis of the Finnish type (CNF) is a rare, autosomal recessive disorder of glomerular filtration that results in massive proteinuria, edema, and ascites. Although previous studies describe the classic renal lesions characterizing this disorder, there are few documenting in detail the associated placental alterations. In this context, we present a case of CNF with emphasis on the placental pathology and compare our findings to what has been previously reported in the literature. A 36-year-old G2P1 with no significant medical history developed persistently elevated amniotic fluid alpha-fetoprotein in the absence of neural tube defects. Because of a clinical suspicion of CNF, she electively terminated the pregnancy at 19 weeks. Postmortem examination revealed characteristic renal changes, confirmed by electron microscopy, as well as significant placental villous edema. Although the placenta was not enlarged, the villi appeared profoundly hydropic. Extensive cystic vacuolar change was documented in both stem villi and tertiary villi, affecting 95% of the villi present. Since the fetus was not grossly edematous, the placental findings may represent the first sign of systemic hypoproteinemia. Received October 15, 2001; accepted October 23, 2001.     

Giant Congenital Melanocytic Nevus with Placental Involvement: Long-Term Follow-up of a Case and Review of the Literature

We describe a case of giant congenital melanocytic nevus with placental villous involvement in an otherwise uncomplicated pregnancy. Only four similar cases have been reported in the world literature. Nevomelanocytes were found in both villous stoma and fetal capillaries. No neonatal or maternal adverse effects were observed 5 years after diagnosis in the present case.     

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.     

Thrombosis of the Umbilical Cord: Analysis of 52 Cases and Literature Review

Fifty-two cases of umbilical cord thrombosis from 3 patient populations are analyzed and compared with 68 cases from the literature. The incidence of cord thrombosis is approximately 1/1300 deliveries, 1/1000 perinatal autopsies, and 1/250 high-risk gestations. There is a slight male predominance. Umbilical vein thrombosis occurs more frequently than thrombosis of one or both umbilical arteries, but poor fetal outcome is more likely with arterial thrombosis. The mechanism of fetal death when only one umbilical artery is thrombosed is illustrated and discussed. The strong association between cord thrombosis and perinatal morbidity and mortality is not noted among prospective cases but, when present, is related to additional umbilical cord abnormalities, obstetrical complications, or systemic fetal conditions that are the likely cause of both the thrombosis and the poor fetal outcome. The pathogenetic relationship between cord thrombosis and these associated conditions is discussed, and it is concluded that cord thrombosis is a marker of both the severity of these conditions and the likelihood of poor fetal outcome.     

Sialoblastoma: A Case Report and Review of the Literature on Congenital Epithelial Tumors of Salivary Gland Origin

The histologic, immunohistochemical, and ultrastructural features of a congenital epithelial tumor of the parotid were studied. The tumor was characterized by solid nests of epithelial cells intermingled with proliferating ductal structures lined by a double layer of cells. Immunoperoxidase staining for cytokeratin, vimentin, actin, and S-100 protein showed the presence of cytokeratin in the ductal cells as well as the presence of vimentin, actin, and S-100 protein in the outermost layer of the ducts. The solid nests were focally reactive to S-100 and vimentin. Ultrastructural examination revealed myoepithelial cells with replication of basement membrane material. The tumor recurred 17 months after excision without lymph node involvement or metastasis. The term “sialoblastoma” is favored. Review of the literature on congenital, epithelial salivary gland tumors showed that a few cases recurred locally and only one case had regional lymph node involvement. No distant metastasis has been reported.     

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.     

Cystic Dysplasia of the Testis: A Report of Three Cases and Review of the Literature

We describe the clinical and pathologic findings in three cases of cystic dysplasia of the testis and compare our findings to others in the English literature. The condition is characterized by dilatation of the rete testis with or without similarly affected adjacent structures. It is important to recognize this lesion for two reasons. First, it is associated with a high frequency of ipsilateral renal anomalies. Second, it is important to consider this condition in the differential diagnosis of cystic testicular mass in a neonate or a child. The management of this condition is quite different from the management of other testicular masses such as a hydrocele, testicular germ cell tumor, or infiltrative disorder (e.g., lymphoma, inflammation, torsion, or hematoma). Testicular cystic dysplasia is benign and the lesion can be removed surgically, leaving the rest of the testis intact. A discussion of the lesion's possible pathogenesis is also presented.