Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013911 (emaciation)
 1,059 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Russel's syndrome is characterized by emaciation and hyperactivity in children and is caused by hypothalamic expansive process. This report presents the typical signs of the syndrome associated with growth hormone secretion disorders and precocious puberty pattern appearing at the age of four. The pathogenesis of the disorder is discussed and related to the hypothalamus-pituitary axis dysfunction caused by the tumor growth.
 ...
PMID:[Russel's syndrome. Report of a case with development of precocious puberty]. 360 39

Two cases of the diencephalic syndrome were reported with hormonal studies. The first case was initially admitted at her age of 4 years and 10 months old. Progressive visual disturbance and horizontal nystagmus had developed one year prior to the admission. Her weight gain had stopped since 10 months old. Partial removal of the hypothalamic pilocytic astrocytoma and 5,000 rad of lineac radiotherapy brought satisfactory effects on her previous symptoms. She was readmitted, however, at her age of 8 years and 10 monts old because of precocious puberty. Her breast development was in Tanner's grade 2, and her bone maturation was equivalent to one of 11 years old. Hormonal studies showed decreased urine 17-OHCS and 17-KS, elevated serum LH, E1 and E2. The CT scan disclosed some enhanced area in the vicinity of the optic chiasm, which had not changed for the last one year. The second case was admitted at his age of 10 years and 9 months old because of progressive marked emaciation of 6 months' duration. Parinaud's sign was only positive neurological finding. The CT verified enhanced areas in the pineal and chiasm. Cytological study of CSF gave the diagnosis of germinoma. Hormonal studies showed decreased urine 17-OHCS and 17-KS, decreased T3, T4, ACTH, and increased PRL as well as increased HGH. Local lineac irradiation by 5,500 rads was given, during which the enhanced area in CT disappeared and his weight gain started. Increased HGH became normalized but paradoxical response of HGH to GTT remained same.
 ...
PMID:[Two cases of the diencephalic syndrome were reported with hormonal studies (author's transl)]. 724 42

A follow up study of 40 cases of optic chiasm gliomas is presented. Histological examination was obtained in 26 cases. All were bipolar spongioblastomas. Four of these were optic nerve gliomas, 17 chiasmatic gliomas and 19 invasive optohypothalamic tumors. The main clinical features are reviewed with special attention to endocrine disorders, including precocious puberty and diencephalic emaciation. Neurofibromatosis was present in 30%. Diagnostic difficulties are outlined, especially in chiasmatic tumors without optic nerve involvement: event with C T scan, the differential diagnosis with ectopic pinealomas, craniopharyngiomas and primary hypothalamic tumors, may be difficult. The operative mortality was 12% (3/25). All but one, had radiotherapy either alone or post operative. All four of the patients with unilateral optic nerve gliomas have a normal C T scan more than 10 years after treatment. Of the 17 patients with chiasmatic gliomas, 14 are alive with normal C T scan in 2 cases, and with reduction in size of the tumor in 7. Eleven of 19 patients with invasive gliomas are alive with diminished size of the tumor in 7. Improvement in visual acuity, reduction in size of tumor mass, persistent increase in size of non irradiated tumor and lack of recurrence of optic nerve glioma even with histological proven chiasmatic involvement is taken as evidence of the effect of radiotherapy. The sub frontal approach is emphasized for optic nerve and optic chiasm tumors: it provides direct surgical verification with the opportunity for complete removal, large biopsy, decompression of the optic foramina or cyst removal. Regarding secondary endocrine disorders, radiotherapy is discussed in children. If necessary it must be managed under careful evaluation of endocrine status, principally growth function.
 ...
PMID:[Optic chiasm gliomas (author's transl)]. 746 70