Endobronchial Glomus Tumor in a Child.

Glomus tumors (GTs) are rare, usually benign, mesenchymal neoplasms typically located in the cutaneous tissues of the extremities. Visceral locations have been reported in ∼5% of cases. The average age at diagnosis is 42 years.

Primary Spinal Epidural/Extramedullary Ewing Sarcoma in Young Female Patients.

Unlabelled: Primary spinal epidural/extramedullary ewing sarcoma (ES) is a rare extraosseous lesion. Extraosseous ES has a similar demographic as osseous ES, primarily affecting adolescents and young adults and male propensity. Reported 5-year survival is 0% to 37.

Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases.

Epsilon gamma delta beta (εγδβ) - thalassemia is a very rare disorder that results from large deletions in the β-globin gene cluster which abolish all regional globin chain gene expression from that allele. Since it is an exceedingly rare cause of neonatal anemia and is not detected by routine newborn screening, it is usually not suspected clinically and commonly undiagnosed or misdiagnosed. In this study, we describe two patients diagnosed in our hospital with (εγδβ)-thalassemia based on the results obtained from DNA microarray analysis of their peripheral blood.

Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism.

Background: Turner syndrome is a genetic disorder resulting from the absence of or structural abnormality of one X chromosome. The presence of Y chromosome material in girls with Turner syndrome confers an increased risk of benign and malignant germ cell tumor and prophylactic bilateral gonadectomy is recommended.

Case: A 10-year-old Turner mosaic syndrome (45X/46XY) patient underwent prophylactic gonadectomy after unremarkable preoperative pelvic imaging.

Neuroblastoma in Adolescents and Children Older than 10 Years: Unusual Clinicopathologic and Biologic Features.

Neuroblastoma (NB) in children older than 10 years is rare. We reviewed our archives for patients with NB aged 10 to 18 years and summarized their clinicopathologic/genetic records. Of 96 patients, 4 patients were identified in this age group.

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression.

YAP and the Hippo pathway in pediatric cancer.

The Hippo pathway is an important signaling pathway that controls cell proliferation and apoptosis. It is evolutionarily conserved in mammals and is stimulated by cell-cell contact, inhibiting cell proliferation in response to increased cell density. During early embryonic development, the Hippo signaling pathway regulates organ development and size, and its functions result in the coordinated balance between proliferation, apoptosis, and differentiation.

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Mitochondriopathies are a group of clinically heterogeneous genetic diseases caused by defects in mitochondrial metabolism, bioenergetic efficiency, and/or signaling functions. The large majority of proteins involved in mitochondrial function are encoded by nuclear genes, with many yet to be associated with human disease. We performed exome sequencing on a young girl with a suspected mitochondrial myopathy that manifested as progressive muscle weakness, hypotonia, seizures, poor weight gain, and lactic acidosis.

Altered pulmonary lymphatic development in infants with chronic lung disease.

Pulmonary lymphatic development in chronic lung disease (CLD) has not been investigated, and anatomy of lymphatics in human infant lungs is not well defined. Hypothesis. Pulmonary lymphatic hypoplasia is present in CLD.

Large multifocal cardiac myxoma causing the sudden unexpected death of a 2-month-old infant--a rapidly growing, acquired lesion versus a congenital process?: a case report.

We report the occurrence of a clinically undiagnosed biatrial myxoma with left ventricular involvement in a 2-month-old male infant, resulting in sudden death. During a routine well-baby examination, a grade (34) holosystolic murmur was detected at the left sternal border with radiation to the axilla and back. On the following day, the patient collapsed and died suddenly.

Papillary glioneuronal tumor: a case report and review of the literature.

Papillary glioneuronal tumor is a recently described central nervous system neoplasm that almost always occurs adjacent to the lateral ventricle. We present a case of this rare entity, representing the 21st case of this lesion, which exhibits a mixed astrocytic and neuronal differentiation. This case was an incidental finding in a young woman who presented secondary to a traumatic injury to the left eye.

Altered expression of pro-inflammatory and developmental genes in the fetal brain in a mouse model of maternal infection.

Human studies of unexplained cerebral palsy (CP) suggest an association with maternal infection. We used an established model of maternal infection, lipopolysaccharide (LPS) administration, to investigate the molecular changes in the fetal brain that may link maternal infection and CP. We compared gene expression in brains from mouse pups exposed to LPS in utero to those from saline-treated controls.

Eye abnormalities in Fryns syndrome.

Fryns syndrome is a rare, generally lethal, autosomal recessive multiple congenital anomaly (MCA) syndrome first described in 1979. Patients with the syndrome present with the classical findings of cloudy cornea, brain malformations, diaphragmatic defects, and distal limb deformities. Over 70 patients have been reported revealing a wide variety of phenotypic features.

Newborn with anophthalmia and features of Fryns syndrome.

We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew Wood syndrome.

Fetal hydrops and familial pulmonary lymphatic hypoplasia.

Two siblings were born with pleural effusions and hydrops. The first infant was a 26-week-old gestation male and died at 8 hours of life with radiographically small lungs and pulmonary insufficiency. No lung tissue was obtainable.