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At least 991 records · Page 55Linked to original sources
PubMed1997

Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?

We report on 4 children from 2 unrelated families who appear to have the lethal ARC syndrome (arthrogryposis, renal tubular dysfunction, and cholestasis) together with the additional findings of nephrogenic diabetes insipidus and cerebral anomalies, including deafness. With increased survival time in our patients, paucity of the intrahepatic bile ductules and cholestasis progressed to cirrhosis, growth was severely impaired, and severe mental retardation became apparent. No evidence was found for peroxisomal, chromosomal, or mitochondrial disorders. We propose to amend the ARC mnemonic to ARCC-NDI (A-Arthrogryposis, R-renal Fanconi, C-cerebral, C-cholestasis, NDI-nephrogenic diabetes insipidus) to name the major manifestations of this syndrome, several of which have not been appreciated.

Abnormalities, Multiple↗
PubMedDate not supplied

Benign cephalic histiocytosis with diabetes insipidus.

Benign cephalic histiocytosis is a rare skin condition consisting of small tan papules on the face and upper trunk that is believed not to be associated with internal organ involvement. The infiltrating histiocytes are not Langerhans' cells (LCs). We report a 5-year-old girl who presented with diabetes insipidus 1 year after developing multiple small brown asymptomatic skin papules. Histologic examination revealed a non-LC histiocytic proliferation in the dermis without epidermal invasion. She had infiltration of the pituitary stalk on brain imaging. Diabetes insipidus has heretofore been associated with LC histiocytosis and xanthoma disseminatum but not benign cephalic histiocytosis.

Child, Preschool↗
PubMed2001

Infundibulohypophysitis in a man presenting with diabetes insipidus and cavernous sinus involvement.

Infundibulohypophysitis is an unusual inflammatory condition that affects the infundibulum, the pituitary stalk, and the neurohypophysis and may be part of a range that includes lymphocytic hypophysitis. Lymphocytic hypophysitis occurs mainly in women and most often presents in the later stages of pregnancy. Infundibulohypophysitis usually presents with diabetes insipidus and the cause remains unclear. The case of a 46 year old man with a 12 week history of polyuria and polydipsia is reported. Cranial diabetes insipidus was diagnosed on the basis of a water deprivation test. Initial cranial and pituitary imaging studies were normal. He subsequently developed symptoms of panhypopituitism over a period of 6-9 months and then, more acutely, developed diplopia secondary to a fourth nerve palsy. Further brain imaging studies disclosed an enhancing pituitary stalk and a left cavernous sinus lesion. An initial trial of immunosuppressive treatment did not help symptoms significantly. The diagnosis of infundibulohypophysitis was made on histological evidence. The patient was treated with prednisolone and methotrexate. At 9 months he is well, without symptoms, and the radiological abnormalities have resolved.

Anti-Inflammatory Agents↗
PubMed1992

Central diabetes insipidus due to acute monocytic leukemia: case report and review of the literature.

We describe a 69-year-old man who presented with a four-month history of polyuria and polydipsia. Plasma vasopressin levels were undetectable, and a dehydration test was abnormal. Based on these findings, a diagnosis of central diabetes insipidus has been established. Hematologic studies showed acute monocytic leukemia. A relationship between the hematologic and endocrine disturbance has been hypothesized, and histological examination at autopsy showed leukemic infiltration of the pituitary stalk. This patient represents the third case in the world literature of central diabetes insipidus associated with acute monocytic leukemia.

Diabetes Insipidus↗
PubMedDate not supplied

Optic nerve hypoplasia with diabetes insipidus.

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.

Child↗
PubMed1976

DDAVP in the treatment of central diabetes insipidus.

DDAVP, 1-desamino-8-d-arginine-vasopressin, is a synthetic analogue of vasopressin with increased antidiuretic activity and decreased pressor activity. Whereas the antidiuretic-to-pressor ratio of arginine vasopressin is 1, the antidiuretic-to-pressor ratio of DDAVP is 4000. When administered as an intranasal spray, 5 to 20 mug of DDAVP produced eight to 20 hours of antidiuresis in patients with complete central diabetes insipidus. The minimum recommended therapeutic dose resulted in a maximum antidiuresis in most patients. No side effects of the drug were noted in clinical trials. DDAVP thus gives promise of becoming the standard treatment of severe central diabetes insipidus.

Catheterization↗
PubMed1994

Lymphocytic hypophysitis causing hypopituitarism and diabetes insipidus, and associated with autoimmune thyroiditis, in a non-pregnant woman.

A 25 year old non-pregnant woman presented with a one-year history of amenorrhoea and polyuria. Three months before her admission, she had suffered lymphocytic meningitis. Hormonal studies revealed hypopituitarism and central diabetes insipidus, with associated primary autoimmune hypothyroidism. Computed tomographic scan and magnetic resonance imaging showed a pituitary mass with suprasellar extension and thickened stalk. Transsphenoidal surgery was performed and the histological study revealed fibrosis and diffuse lymphocytic infiltration with predominance of CD4 lymphocytes. This further case of lymphocytic hypophysitis was not related to pregnancy and produced diabetes insipidus, two uncommon associations. We discuss the features that can lead to a preoperative suspicion of this rare disorder.

Adult↗
PubMed1993

[Diabetes insipidus and postpartum anterior hypophyseal insufficiency].

There have only been thirty cases of total post-partum hypopituitarism published in the literature and these have nearly all been secondary to Sheehan's syndrome. The authors report a case of partial anterior hypopituitarism associated with diabetes insipidus which arose after an uneventful Caesarean operation and the origin of which seems to lie in auto-immune hypophysitis. The authors first describe the morphological and endocrine changes that the hypophysis undergoes during pregnancy and then point out that auto-immune hypophysitis seems to have been only recently recognised. This can be used to explain some cases of post-partum hypophyseal insufficiency occurring almost silently without any history of third haemorrhage. Research has been made systematically for anti-hypophyseal antibodies and for specific antibodies of the organ, but has not always been positive. So the diagnosis of auto-immune hypophysitis is often made only after eliminating other reasons for it. A brief review of the physiopathological mechanisms of diabetes insipidus makes it possible to suggest that vasopressinase coming from the placenta together with prostaglandins could play a role.

Adult↗
PubMed1991

Endocrine crises. Diabetes insipidus.

Normal water balance with strict maintenance of plasma osmolality depends on appropriate water conservation (controlled by ADH release and action) and additional water intake if required (triggered by the awareness of thirst). Central nervous system pathology (including trauma) commonly involves the hypothalamus and pituitary stalk, leading to impaired osmoreceptor function or diminished ADH production or release, resulting in diabetes insipidus (with potentially life-threatening abnormalities in fluid and electrolyte status). Assessment of the relationships between plasma and urine osmolality and plasma ADH levels will usually lead to an accurate diagnosis. Central diabetes insipidus is effectively treated with replacement of free water deficits and exogenous ADH analogues.

Adult↗
PubMedDate not supplied

Fragile X syndrome and nephrogenic diabetes insipidus.

We describe a man with the fra(X) syndrome and nephrogenic diabetes insipidus. The disease loci for both conditions are in the region Xq27.3-q28. This is the first report of the fra(X) syndrome associated with another X-linked disorder. Analysis of DNA markers suggested that the association in this man was coincidental.

Diabetes Insipidus↗
PubMed1975

Evidence for permanent enhancement of residual ADH induced by antidiuretic agents (chlorpropamide, carbamazepine, clofibrate) in patients with pituitary diabetes insipidus.

Excretion of free water was studied in 7 patients with pituitary diabetes insipidus before treatment and after withdrawal of antidiuretic drugs (chlorpropamide, carbamazepine, clofibrate) used on a long-term basis. A statistically significant decrease in free water clearance was found after 2-4 weeks of withdrawal of antidiuretic agents. This was considered as a clinical evidence for the permanently enhanced release of residual ADH induced by chlorpropamide, carbamazepine and clofibrate in patients with partial defect in ADH secretion.

Adolescent↗
PubMed1994

[Pregnancy in diabetes insipidus].

This report is on six pregnancies of a woman with idiopathic diabetes insipidus detected after previous stillbirth, during the second pregnancy. On treatment with the only then available injectable substitute, an eutrophic child developed. Since the end of the second pregnancy, the patient has been treated with DDAVP. During the other five pregnancies dystrophic children were delivered due to placental insufficiencies. In the last pregnancy, after cessation of foetal growth a new growth phase could be initiated by improvement of placenta flow by haemodilution.

Adult↗