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Extragonadal yolk sac tumors are uncommon and usually seen in sacrococcygeal, mediastinal, intracranial, and retroperitoneal sites. Yolk sac tumors of the head and neck region are rare, and the few reported cases have arisen in neonates or infants in conjunction with a teratoma or other germ cell tumor subtypes. We report a unique case of a pure yolk sac tumor presenting as a primary lesion in the right thyroid lobe of a 10-year-old girl. The diagnosis was suspected after fine-needle aspiration, and extensive sampling of the thyroidectomy specimen revealed no teratoma or other germ cell tumor. Serum α-fetoprotein levels were markedly elevated 6 days after excision, and imaging disclosed numerous bilateral pulmonary nodules suggestive of metastatic disease but did not reveal a mediastinal mass. The tumor has shown a favorable response to bleomycin, etoposide, and cisplatin chemotherapy. To the best of our knowledge, this is the 1st description of a primary pure yolk sac tumor of the thyroid.

Nonsyndromic supravalvar aortic stenosis (SVAS) is an obstructive vascular disorder often inherited in an autosomal dominant manner. With pulmonary artery involvement, stenotic lesions are nearly always peripheral or downstream of the pulmonic valve. In rare cases when the supravalvar pulmonic region is affected, the stenoses usually improve over time and rarely affect prognosis. We evaluated a unique family in which 10 of 14 individuals have nonsyndromic SVAS and 7 of the 10 affected family members with SVAS have the rare finding of supravalvar pulmonic stenosis (SVPS). In at least 2 of these individuals, the severity of SVPS was so significant that it led to death in early infancy. Pathologic examination of stenotic lesions in this kindred group revealed concentrically organized smooth muscle cells separated by dense elastic fibers. In contrast, the arterial pathology reported for other individuals with nonsyndromic SVAS demonstrates increased numbers of hypertrophied smooth muscle cells separated by thin, fragmented elastin fibers. Molecular analysis identified a novel ELN mutation within the donor splice site of exon 16, which may be responsible for the unique phenotype and distinct elastin histopathology found in this kindred.

Gastrointestinal polyps and certain extraintestinal lesions in children may herald a hereditary polyposis syndrome, with an increased risk of neoplasia and other health problems for both children and their relatives. The availability of molecular/genetic screening tests has increased early diagnosis of younger members of known polyposis families. This article reviews the gross and microscopic features of polyposis syndromes of childhood and summarizes the molecular/genetic advances in this field. Clinical management is also briefly discussed.

Cystic fibrosis (CF) is associated with malnutrition resulting from exocrine pancreatic insufficiency, bacterial overgrowth, and intestinal dysmotility as a consequence of hyperviscous intestinal contents. Celiac disease (CD) is an autoimmune disease associated with gluten exposure leading to such symptoms as malnutrition, abdominal pain, and diarrhea. CD is common in many countries, including the United States, and it should be considered in any patient that presents with malnutrition, abdominal pain, or diarrhea. Other autoimmune diseases, including type 1 diabetes mellitus, autoimmune thyroiditis, and autoimmune hepatitis can be associated with CD. Various serum antibody tests are available to diagnose CD, although the gold standard of CD diagnosis is esophagogastroduodenoscopy with multiple duodenal biopsies. Treatment of CD includes lifelong removal of dietary gluten, which leads to resolution of malnutrition symptoms and reduces the risk of developing other autoimmune diseases and small bowel lymphoma. The prevalence of CD in CF patients is higher than in the general population, and any CF patient showing continuing signs and symptoms of malabsorption should be screened for CD.

In the last part of this three-part review of parasitic infections of the central nervous system in children, we consider parasites which due to their size, distribution, or the nature of the host response, tend to cause focal lesions in the brain and spinal cord and therefore present as space-occupying lesions which occasionally mimic malignant tumors. As in Parts I and II, infections are grouped according to their predominant geographic area. Such infections include cysticercosis, one of the more common and important infections of the central nervous system. (J Child Neurol 1995; 10:177-190).

In the second segment of this three-part review of parasitic infections of the central nervous system in children, we consider parasitic infections which typically involve various tissues and organs in addition to the brain and spinal cord. Parasites capable of dissemination in immunocompetent hosts are discussed first, and, as in Part I, organisms are grouped according to their predominant geographic location. This is followed by a discussion of the unique aspects of toxoplasmosis, strongyloidiasis and infection with microsporidia in immunocompromised patients, with an emphasis on the central nervous system. (J Child Neurol 1995;10:77-87).

This review article presents the epidemiology, pathogenesis, clinical presentation, laboratory and radiologic findings, and treatment of parasitic infections of the central nervous system in children. Some obscure parasitic infections are included. To assist the clinician faced with a specific case, infections are categorized first by predominant clinical manifestations : congenital disease, meningoencephalitis, focal lesions, and disseminated multisystem disease. Within the clinical categories, parasites are grouped according to the geographic area where most human infections occur. Congenital infections and those that present most frequently as meningoencephalitis are discussed in this part of the review. ( J Child Neurol 1995; 10:4-17).

We appreciate the interest in our recent paper on celiac disease (CD) [1], and Dr. Drut’s sharing his perspective on tissue handling and the details of his grading system for villous atrophy [2]. As our paper indicated, and a recent flurry of activity on the Pediatric Pathology listserve has reiterated, there is currently no consensus for optimal tissue handling of small intestinal biopsies. While in our hands, orientation of tissue at the time of embedding by an experienced histotechnologist and examination of multiple levels for selected cases works best, in Dr. Drut’s institution, orientation of tissue on a substrate is preferred. We discuss the advantages and disadvantages of both methods in our paper [1]. We agree with Dr. Drut that a standardized grading scheme for small intestinal biopsies for CD is helpful to the clinician. The Marsh classification is widely used and the modified Marsh classification includes an infiltrative lesion lacking architectural abnormalities and subdivision of villous atrophy into three grades of severity [3]. As CD is currently considered to be predominantly an immune-mediated process, a grading scheme that includes lymphocytic infiltration seems appropriate. As Oberhuber et al. state, “An increase in the number of IEL is the first and most sensitive index of the effects of gluten on the mucosa [their ref. 20], and is therefore the single most important histological feature in CD” [3]. In contrast to Dr. Drut’s experience, our group and others have seen small intestinal biopsies from patients with CD show increased intraepithelial lymphocytes (IEL) and no architectural abnormalities (modified Marsh type I) [3,4], as well as cases of CD with patchy involvement of only some of the biopsy fragments [5]. Thus, although a wider net is cast, we favor a grading system which will call to attention possible cases of CD that would be missed if architectural abnormalities alone were required to suggest diagnosis. Whatever grading scheme is employed, biopsy findings alone are not specific for CD and should be interpreted within the clinical context of each individual case.