Primary cardiac malignant peripheral nerve sheath tumor in a 23-month-old infant

We report the second case of primary cardiac malignant peripheral nerve sheath tumor in pediatric population.     

Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor

Recent molecular studies have shown a relatively high rate of loss of heterozygosity (LOH) at band 7p15-21 in Wilms tumor. We previously reported that the minimal common region of LOH was located between markers D7S517 and D7S503 in bands 7p15-21. We also reported the identification of one Wilms tumor (GOS44) bearing a homozygous, interstitial deletion at a locus within this region. Homogeneous primary cell cultures have been derived from this tumor and have been used for all the subsequent analyses. Using PCR and a panel of STS markers mapping between D7S517 and D7S503, the physical boundaries of the homozygous deletion were determined to be between D7S638 and D7S644. The deleted region spans approximately 3 Mbp of genomic sequence and includes seven known genes (KIAA0744, KIAA0713, AHR, AGR2, NET6, HSPC028, and DGKB.) as well as five predicted genes with similarities to genes of known function (LOC-91802, -116364, -96009, -92511, and -92512). The proximal breakpoint was found to lie between exon 6 and exon 7 of KIAA0744, and the distal breakpoint lay between exon 17 and exon 18 of DGKB. It is unlikely that a functional fusion gene product was generated as a consequence of the fusion between these two genes, because they are oriented in opposite directions on the chromosome. This is the only reported homozygous deletion recorded so far in Wilms tumor, and it provides the means to identify the tumor-suppressor gene located in this deletion.     

Tetraploidy in a 15-month-old girl

We present a 15-month-old girl with tetraploidy and compare the manifestations with those of 3 previously reported liveborn infants with the same type of polyploidy. Common anomalies noted included micro-turricephaly, a prominent but narrow forehead, microphalmia or anophthalmia, limb anomaly, sacral meningomyelocele, and mental retardation.     

Cerebral cysticercosis in a 22-month-old infant

A case of cerebral cysticercosis is described in a 22-month-old infant from northern California who presented with a right-sided focal seizure. Unusual features were her young age; a single, enlarging, frontoparietal mass lesion; and apparent lack of history of exposure to an endemic area.     

Ocular thelaziasis in a 7-month-old infant

Human thelaziasis is a zoonotic eye disease caused by a nematode parasite called Thelazia. In India, seven human cases of Thelazia have been reported earlier. This is the first case report of an infant infected with Thelazia. During the month of July, 2012, the infant was presented with an eye problem to the eye clinic from a village of Dibrugarh. Five worms (three female and two male) were recovered from the left eye of the infant. Thelazia infection is rare in infant, and report of this case is suggestive of prevalence of infection in the area and warrants further investigation.     

Wilms tumor in a patient with 22q11.2 microdeletion

22q11.2 deletion syndrome is the most common microdeletion syndrome. Wilms tumor is one of the most common solid tumors in childhood yet 22q11.2 deletion and Wilms tumor only once have been reported in the same patient. Here we describe a young patient with subtle clinical findings suggestive of 22q11.2 at the time of diagnosis who subsequently developed Wilms tumor. We assert the importance of a low threshold for screening for 22q11.2 deletion and the associated phenotypes and maintaining vigilance in screening for common primary malignancies in patients with known 22q11.2 deletion.     

Lin28 sustains early renal progenitors and induces Wilms tumor

Wilms Tumor, the most common pediatric kidney cancer, evolves from the failure of terminal differentiation of the embryonic kidney. Here we show that overexpression of the heterochronic regulator Lin28 during kidney development in mice markedly expands nephrogenic progenitors by blocking their final wave of differentiation, ultimately resulting in a pathology highly reminiscent of Wilms tumor. Using lineage-specific promoters to target Lin28 to specific cell types, we observed Wilms tumor only when Lin28 is aberrantly expressed in multiple derivatives of the intermediate mesoderm, implicating the cell of origin as a multipotential renal progenitor. We show that withdrawal of Lin28 expression reverts tumorigenesis and markedly expands the numbers of glomerulus-like structures and that tumor formation is suppressed by enforced expression of Let-7 microRNA. Finally, we demonstrate overexpression of the LIN28B paralog in a significant percentage of human Wilms tumor. Our data thus implicate the Lin28/Let-7 pathway in kidney development and tumorigenesis.     

Unusual aberration involving the short arm of chromosome 11 in an 8-month-old patient with a supratentorial primitive neuroectodermal tumor

An 8-month-old baby girl with a supratentorial primitive neuroectodermal tumor showed an unusual aberration involving the short arm of chromosome 11. Seven abnormal metaphase cells had 49 chromosomes with trisomies of chromosomes 9 and 13, and partial trisomies of 1q and 18p. One homologue chromosome 11 was strikingly abnormal showing a long acrocentric-like form, which was composed of the long arm of chromosome 1 and an addition to the short arm of chromosome 11. This was characterized by fluorescence in situ hybridization using a partial arm chromosome-painting probe.     

Intrapulmonary cystic lymphangioma in a 2-month-old infant.

Lymphangioma is an abnormal collection of lymphatics that are developmentally isolated from the normal lymphatic system. Lymphangioma rarely presents as a solitary pulmonary lesion. We report a rare case of intrapulmonary cystic lymphangioma involving the upper lobe of the right lung, which presented with dyspnea in a 2-month-old infant. High-resolution computed tomography (HRCT) of the chest demonstrated a well-circumscribed, multiseptate, cystic lesion in the upper lobe of the right lung, mimicking the feature of type I congenital cystic adenomatoid mal-formation. The tumor was removed by bilobectomy of the upper and middle lobes of the right lung, and its pathologic examination confirmed the diagnosis of an intra-pulmonary cystic lymphangioma.     

An example of anti-LWa in a 10-month-old infant

Blood samples from a 10-month-old male infant requiring transfusion were found to contain an allomtibody reacting at 37 degrees C in saline, by indirect antiglobulin test (IAT), and with a manual polybrene technique. Preliminary results suggested anti-D and another weaker reacting antibody, but the patient had been previously transfused with only D- blood. His serum reacted more weakly by IAT against red cells treated with 0.2M dithiothreitol (DTT), and one D+, LW(a-) sample was nonreactive. The patient's red blood cells (RBCs) typed as B, D-, LW(a-), K-, Fy(a-). Due to the age and clinical status of the child, 51Cr survival studies were not performed. One pediatric unit of D-, K-, Fy(a-) blood was transfused uneventfully; the expected increment of hemoglobin was achieved. Repeat testing 3 months later showed a weakly positive DAT, the patient's RBCs typed as LW(a+), and anti-LWa was detected only by a two-stage papain technique. These results suggest that the patient had a transient depression of LWa with a concurrent anti-LWa.     

A 10-month-old boy with a large pineal tumor

February 2005. Case report of a 10-month-old boy with a large tumor located in the pineal gland, consisting of glia, ganglion cells, pigmented neuroepithelium and striated muscle, without immature components. The combination of neuroectodermal and mesenchymal constituents includes entities as pineal anlage tumor (melanotic neuroectodermal tumor of infancy, MNTI), ectomesenchymoma, medullomyoblastoma, and teratoma in the differential diagnosis. Lack of immature elements in this case, however, eliminates ectomesenchymoma and medullomyoblastoma from the differential diagnosis. Retinal anlage tumors, to be considered as MNTI at the site of the pineal gland, usually harbor immature components as well. Therefore, the present case does not match strict criteria of any of the categories mentioned and therefore we have designated it as a "pineal anlage tumor (without immature components)".     

Stress reactivity in 15-month-old infants: links with infant temperament, cognitive competence, and attachment security

In a sample of eighty-five 15-month-old infants, salivary cortisol was obtained prior to and following a potentially stressful episode in which the child was confronted with a stranger and with a frightening robot. Infant characteristics such as anger proneness, cognitive competence, and attachment security were expected to be related to cortisol reactivity during the stressful event. The results showed higher cortisol reactivity in more anger-prone infants and in infants with higher levels of cognitive development as assessed with the Bayley Scales of Infant Development (N. Bayley, 1969). Attachment security, assessed with the Attachment Q-Set (AQS; E. Waters, 1995), was found to moderate the relation between cognitive level and cortisol reactivity; the positive relation between cognitive development and cortisol response was found in only infants with low AQS security scores. The findings may have important implications for research in the development of self-regulation in humans as well as in studies with animals.