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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with the combination of bilateral optic nerve hypoplasia and diabetes insipidus are reported. One patient also had absence of the septum pellucidum (septo-optic dysplasia), which previously has been associated primarily with abnormalities of anterior pituitary function.
J Pediatr Ophthalmol Strabismus
PMID:Optic nerve hypoplasia with diabetes insipidus. 73 38

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.
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PMID:Bilateral optic nerve hypoplasia. 692 92

The most common presentation of metastases to the pituitary gland in systemic lymphoma is diabetes insipidus resulting from infiltration of the infundibulum/posterior lobe. We describe a 69-year-old man with diffuse large B-cell stage IV lymphoma who presented with anterior pituitary hypofunction, without features of posterior pituitary involvement. He presented with a few months of postural dizziness and hypotension, weight loss, fever, strabismus of right eye and a superficial abdominal wall mass. At this time he had no history of malignancy. Biochemically he had hypovolemic hyponatremia, secondary hypothyroidism and adrenal insufficiency. Further hormonal work-up revealed panhypopituitarism but no diabetes insipidus. Imaging of the brain, thorax and abdomen demonstrated diffuse intracranial pachymeningeal thickening and enhancement, multiple lymphadenopathies, a bulky right adrenal gland and a large left suprarenal mass, which were indicative of an infiltrative disease. Imaging of the pituitary showed heterogeneous enhancement of the anterior lobe with an unremarkable pituitary stalk and posterior lobe. Biopsy of the superficial abdominal wall mass revealed diffuse large B-cell lymphoma confirmed by bone marrow aspiration biopsy. Positron emission tomography (PET) scan confirmed diffuse systemic disease involving the right orbital apex, bilateral adrenal glands, bone and bone marrow, retroperitoneum and subcutaneous tissues; however, the pituitary gland, infundibulum and hypothalamus did not show any lesions on the PET scan. The patient was commenced on two cycles of chemotherapy but unfortunately died, thus recovery of pituitary function was not tested. Pure anterior pituitary hypofunction can uncommonly present in individuals with metastases to the pituitary gland, in contrast to the more common posterior pituitary/infundibulum involvement.
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PMID:Anterior panhypopituitarism in diffuse large B-cell stage IV lymphoma. 2474 11