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Query: UMLS:C0018681 (headache)
56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Turner's syndrome (TS) is associated with a wide spectrum of clinical features, such as short stature and gonadal dysgenesis. While it is a common chromosomal abnormality, the association of Turner's syndrome and hypopituitarism is an uncommon finding. We describe here a girl with concomitant pituitary insufficiency and gonadal dysgenesis. When she was 7 years old, her mother reported that she suffered from frontal headache, asthenia and delayed growth. Basal laboratory thyroid evaluation suggested hypothyroidism, with no evidence of autoimmune disease association. She began taking L-thyroxine. At age 11 years, short stature and complaints of frontal headache still persisted. She was still prepubertal and her bone age was delayed by 2.2 years. Her karyotype was compatible with 45,X/46,XX (100 cells analyzed by FISH) and a CT scan showed empty sella. At 12 years of age, an anterior pituitary stimulation test with insulin, gonadotropin-releasing hormone (GnRH) and thyrotropin-releasing hormone (TRH) showed gonadotropin, thyrotropin (TSH) and growth hormone (GH) deficiency. Replacement therapy with GH was begun and she grew 12 cm during the first year of treatment. This report illustrates that, despite the high incidence of sinusitis, short stature and primary hypothyroidism in TS, we should consider the presence of hypopituitarism when the patient presents low levels of TSH with negative thyroid antibodies and inappropriately low levels of gonadotropins for patients with gonadal dysgenesis.
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PMID:Association of Turner's syndrome and hypopituitarism: a patient report. 1294 5

Rhabdoid tumors of the central nervous system are uncommon, aggressive childhood malignancies. The 13 described adult cases comprise both primary CNS tumors and malignant transformation of previously existing gliomas, meningiomas, and astrocytomas. Central nervous system rhabdoid lesions of adults have been diagnosed as primary malignant rhabdoid tumors, atypical teratoid/rhabdoid tumors, and more recently, rhabdoid glioblastomas. We report a case of a 20-year-old woman in her 30th week of pregnancy who presented with headache, nausea and blurry vision. MRI revealed a large rim-enhancing mass of the right occipital lobe. Gross total resection was achieved via a right parietal-occipital craniotomy. Pathologic evaluation revealed histology, electron microscopy and immunohistochemistry consistent with the diagnosis of malignant rhabdoid tumor. FISH studies were negative for the INI-1 genetic mutations and chromosome 22q deletion associated with childhood atypical rhabdoid/rhabdoid tumor in 75% of cases. The patient delivered her infant via caesarian section prior to initiating further therapy. We briefly describe the characteristics and current understanding of rhabdoid tumors, and review the literature comparing the 12 other cases of central nervous system rhabdoid tumors in adults. Furthermore, we consider and discuss the implications of this case being the second presentation of MRT during pregnancy in only six adult female patients.
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PMID:Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors. 1613 23

Background. Synovial sarcoma is an aggressive soft tissue sarcoma with uncertain histological origin. The pathology frequently presents as a localized disease, especially near large joints around the knee and thigh. Intracranial disease, which is rare, has been reported as metastasis from synovial sarcoma. We report a case with no obvious primary extracranial pathology, suggesting primary intracranial disease; this has not been reported in the literature. Case Description. A 21-year-old male, with a prior right skull lesion resection for atypical spindle cell neoplasm, presented with headaches, gait instability, left arm weakness, and left homonymous hemianopsia. CT of head demonstrated a right parietal hemorrhagic lesion with mass effect, requiring surgical decompression. Histopathology revealed synovial sarcoma. FISH analysis noted the existence of the t(X;18)(p11.2;q11.2) chromosomal translocation. PET scan did not show other metastatic disease. He underwent stereotactic radiotherapy and adjuvant chemotherapy. At 2-year follow-up, he remained nonfocal without recurrence. Conclusion. We report the first known case of primary intracranial synovial sarcoma. Moreover, we stress that intracranial lesions may have a tendency for hemorrhage, requiring urgent lifesaving decompression.
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PMID:Primary Intracranial Synovial Sarcoma. 2724 11