Spinal Cord Diffuse Leptomeningeal Glioneuronal Tumor Presenting without Leptomeningeal Dissemination.

BACKGROUND AND IMPORTANCE: Diffuse leptomeningeal glioneuronal tumor (DLGNT) represents a provisional entity in the 2016 World Health Organization classification of tumors; it is characterized by a widespread leptomeningeal growth and oligodendroglial-like cytology. To this day, 4 pediatric patients have been reported to present with an isolated spinal cord tumor in the absence of leptomeningeal dissemination. Gross total resection (GTR) was achieved in only 1 patient. We present the clinical and technical nuances of this unique type of tumor, as well as the second reported case of GTR in a patient with DLGNT. CLINICAL PRESENTATION: A 4-year-old boy presented to the emergency department after an episode of flaccid paralysis of bilateral lower extremities. MRI showed an intramedullary spinal cord tumor centered at T8. The patient was taken to the operative room, where a laminectomy and tumor resection were performed; cystic and solid tumor components were identified. Pathology report was consistent with DLGNT. After achieving GTR, patient is free of recurrence after a 15-month follow-up. CONCLUSION: No standard treatment for DLGNT has been identified. Current literature report surgery and chemotherapy with variable success rates. DLGNT presenting as an isolated intramedullary tumor is an uncommon condition which progression appears to be halted when treated promptly. Identifying solid and cystic components of this tumor is crucial for achieving GTR.

False Lung Metastasis: Concurrent Ewing Sarcoma and Minimally Invasive Adenocarcinoma.

Pediatric lung cancer is a very rare occurrence, particularly as a primary lesion. A concurrent diagnosis is even more unusual and only reported a handful of times in Ewing sarcoma. Our patient is a 13-year-old boy who had concurrent diagnoses of Ewing sarcoma and minimally invasive adenocarcinoma of the lung, formerly bronchoalveolar carcinoma. To our knowledge this has also been found in at least 1 other case. There are some classic genetic mutations associated with Ewing sarcoma. None have been found to be linked with the concurrent diagnosis. A biological linkage is worth considering.

Eosinophilic/T-cell Chorionic Vasculitis: Histological and Clinical Correlations.

Eosinophilic T-cell chorionic vasculitis (E/TCV) is composed of eosinophils and T-lymphocytes originating within chorionic vessels, radiating toward the intervillous space and away from the amnion in a fashion different from the fetal vascular response seen in amnionitis. Clinical significance and risk factors are not well established. We report four pregnancies (five infants, one triplet was spared) with E/TCV, gestational ranging from 23 weeks to term. All had concurrent acute chorioamnionitis, three had the typical acute fetal inflammatory response. One had placental fetal obstructive vasculopathy and an upper extremity reduction defect (radio-ulnar synostosis), the mother had pre-eclampsia. A second case involved 2 of 3 23 week previable triplets. Our third case had a metatarsus varus resistant to casting, the mother had gestational diabetes. The last case was a normal infant. We review the literature, discuss the clinical findings and present the histologic characteristics of this infrequently recognized lesion.

Splenic nodules at autopsy.

Gamna-Gandy bodies (GGBs), also known as hemosiderotic nodules, were first described in 1921 in association with sickle cell disease. Since then, they have been documented to occur in association with other pathological processes such as hemolytic anemia, congestive splenomegaly, hereditary hemochromatosis; and acquired hemosiderosis. Despite a uniquely characteristic microscopic appearance that is easily recognized by routine histopathologic examination, the precise significance of GGBs remains unknown. As such, documentation of GGBs in patients either by pathology or radiology should herald the presence of a systemic disorder such as sickle cell anemia or hemochromatosis wherein portal hypertension and/or congestive splenomegaly are present. In this article, we briefly present two autopsy cases from two patients with distinctly different clinical presentations wherein classic Gamna-Gandy bodies are illustrated on routine histopathologic examination.

Neonatal airway obstruction due to a massive lingual foregut duplication cyst.

Foregut duplication cysts (FDCs) are rare malformations arising along primitively derived alimentary tract. Head and neck cases comprise 0.3% of all FDCs with 60% occurring in the oral cavity. We present a case of neonatal airway obstruction secondary to a prenatally diagnosed massive lingual FDC. Definitive treatment requires surgical excision. Histologically, the cysts are lined gastric and respiratory epithelium. FDC should be a consideration in prenatally diagnosed masses affecting the oral cavity.

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.

We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.