RESUMEN

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.

Asunto(s)

Neoplasias Encefálicas , Neoplasias Meníngeas , Neoplasias de la Médula Espinal , Niño , Preescolar , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/cirugía , Recurrencia Local de Neoplasia , Neoplasias de la Médula Espinal/diagnóstico por imagen , Neoplasias de la Médula Espinal/cirugía

RESUMEN

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.

Asunto(s)

Obstrucción de las Vías Aéreas/etiología , Quistes/complicaciones , Enfermedades de la Lengua/complicaciones , Lengua/diagnóstico por imagen , Obstrucción de las Vías Aéreas/diagnóstico , Obstrucción de las Vías Aéreas/cirugía , Biopsia , Quistes/congénito , Quistes/diagnóstico , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Procedimientos Quirúrgicos Orales/métodos , Lengua/cirugía , Enfermedades de la Lengua/congénito , Enfermedades de la Lengua/diagnóstico , Ultrasonografía

RESUMEN

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.