Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of a 14-year-old boy with optic hypoplasia and pituitary dwarfism was presented. Eye Examination showed typical hypoplasia of the left optic nerve and mild hypoplasia of the right optic nerve. Except for dwarfism and nystagmus, the appearance of the patient was not unusual. Computed tomography revealed an enlargement of the suprachiasmatic cistern, and the presence of the septum pellucidum. The pituitary function tests revealed complete deficiency in GH, and poor or intermediate secretion in ACTH, TSH, PRL, LH and FSH. Urine volume and specific gravity were normal. Therapy with human growth hormone has been successful. It was indicated that hypopituitarism was probably of hypothalamic origin and early recognition of the syndrome is important in view of the possibility of treating growth retardation in some blind, or near blind children.
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PMID:Optic hypoplasia with pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome, or DeMorsier syndrome). 688 76

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.
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PMID:[Two cases of the diencephalic syndrome were reported with hormonal studies (author's transl)]. 724 42