Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epignathus is an uncommon form of oropharyngeal teratoma that is associated with a high mortality during the neonatal period. We report the clinical case of a neonate born through cesarean in week 35, Apgar 2-4, neurologic breakdown and widespread hypotonia. The prenatal diagnosis was performed by ultrasonography; the diameter of the solid mass was 5 cm with inner calcium density. An urgent tracheostomy was carried out as it was not possible to get orotracheal intubation (IOT) and, later, we proceeded to remove the mass which was embedded in the hard palate. Our patient died three weeks later due to respiratory and heart failure. We carry out a review of the literature for this pathology.
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PMID:[Epignathus. A case report and review of the literature]. 1282 47

A poorly feeding neonate presents the clinician with a diagnostic challenge. Feeding difficulties and irritability may be due to sepsis, congenital heart disease, inborn errors of metabolism, non-accidental head trauma, as well as a vast variety of other pathologies. Teratomas are rare pediatric tumors that can occasionally present in the immediate neonatal period and can manifest in the infant's central nervous system (CNS) with non-specific symptoms of poor feeding, lethargy, and somnolence. Operative resection remains the cornerstone of treatment; however, there is no well-defined role for adjuvant chemotherapy or radiation in these treatments. We report a case of a four-week-old female presenting with progressive feeding intolerance secondary to a near holocord thoracic spinal teratoma. Her tumor was surgically resected and she was treated with adjuvant chemotherapy and radiation for 13 months and is now in clinical remission. While rare, intramedullary spinal cord lesions should be considered in the differential diagnosis of infants presenting with poor feeding and hypotonia.
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PMID:Progressive Feeding Intolerance Secondary to a Congenital Spinal Teratoma in a Four-week-old Female. 3044 51