Intracranial hypertension, idiopathic

Preferred Label : Intracranial hypertension, idiopathic;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Pseudotumor cerebri;

Description : Buchheit et al. (1969) described 2 sisters with idiopathic intracranial hypertension with papilledema (pseudotumor cerebri). Traviesa et al. (1976) described 3 affected sisters. The patients are typically young females who are obese and may be pregnant or suffering from chronic dysfunctional uterine bleeding. Johnston and Morgan (1991) described a mother and 2 of 4 daughters who had a diagnosis of pseudotumor cerebri and 1 son who developed communicating hydrocephalus. Warner et al. (2002) quantified vitamin A in the cerebrospinal fluid of patients with idiopathic intracranial hypertension, elevated intracranial pressure of other causes, and normal intracranial pressure. Vitamin A could be detected by high-pressure liquid chromatography in most of the specimens. There was a significantly higher level of vitamin A in the cerebrospinal fluid of some patients with idiopathic intracranial hypertension. The authors concluded that vitamin A toxicity might play a role in the pathogenesis of idiopathic intracranial hypertension. Katz et al. (2002) demonstrated the presence of both somatostatin receptor types 1 (182451) and 2 (182452) in all samples of normal human choroid plexus and arachnoid granulations. The authors proposed that these receptors might be involved in the processes of cerebrospinal fluid production and absorption and, thus, might play a role in the increased intracranial pressure of idiopathic intracranial hypertension. *FIELD* SA Howe et al. (1973); Rothner and Burst (1974) *FIELD* RF 1. Buchheit, W. A.; Burton, C.; Haag, B.; Shaw, D.: Familial papilledema and idiopathic intracranial hypertension. New Eng. J. Med. 280: 938-942, 1969. 2. Howe, J.; Saunders, M.; Clarke, P.: Familial benign intracranial hypertension. Acta Neurochir. 29: 173-175, 1973. 3. Johnston, I.; Morgan, M. K.: A familial coincidence of pseudotumor cerebri and communicating hydrocephalus. Neurosurgery 28: 727-729, 1991. 4. Katz, S. E.; Klisovic, D. D.; O'Dorisio, M. S.; Lynch, R.; Lubow, M.: Expression of somatostatin receptors 1 and 2 in human choroid plexus and arachnoid granulations: implications for idiopathic intracranial hypertension. Arch. Ophthal. 120: 1540-1543, 2002. 5. Rothner, A.; Burst, J.: Pseudotumor cerebri: report of a familial occurrence. Arch. Neurol. 30: 110-111, 1974. 6. Traviesa, D. C.; Schwartzman, R. J.; Glaser, J. S.; Savino, P. : Familial benign intracranial hypertension. J. Neurol. Neurosurg. Psychiat. 39: 420-423, 1976. 7. Warner, J. E. A.; Bernstein, P. S.; Yemelyanov, A.; Alder, S. C.; Farnsworth, S. T.; Digre, K. B.: Vitamin A in the cerebrospinal fluid of patients with and without idiopathic intracranial hypertension. Ann. Neurol. 52: 647-650, 2002. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 243200;

Details

Origin ID

243200;

UMLS CUI

C0033845;

Currated CISMeF NLP mapping
- Benign intracranial hypertension [PASCAL descriptor]
- Benign intracranial hypertension (disorder) [SNOMED CT concept]
- Idiopathic intracranial hypertension [ICD-11 More detail]
- Idiopathic intracranial hypertension [MedDRA Preferred Term]
- Idiopathic intracranial hypertension [ORDO Disease]
- PSEUDOTUMOR CEREBRI [WHO-ART Included Term]
- Pseudotumor Cerebri [NCIt concept]
- Pseudotumor cerebri [MedDRA LLT]
- pseudotumor cerebri [DO Concept]
- pseudotumor cerebri [MeSH Descriptor]
- pseudotumor cerebri [MeSH concept]
- pseudotumor cerebri [Radlex concept]
DO Cross reference
- pseudotumor cerebri [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypertension [HPO term]
- Increased intracranial pressure [HPO term]
- Papilledema [HPO term]
ORDO concept(s)
- Idiopathic intracranial hypertension [ORDO Disease]
See also inter- (CISMeF)
- benign intracranial hypertension [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign intracranial hypertension [ICD-9 code]
- Benign intracranial hypertension [MedDRA Preferred Term]
- Benign intracranial hypertension [ICD-10 Sub-category]
- Benign intracranial hypertension [PASCAL descriptor]
- Benign intracranial hypertension [MedDRA LLT]
- Benign intracranial hypertension (disorder) [SNOMED CT concept]
- Idiopathic intracranial hypertension [ORDO Disease]
- Idiopathic intracranial hypertension [MedDRA Preferred Term]
- PSEUDOTUMOR CEREBRI [WHO-ART Included Term]
- Pseudotumor Cerebri [NCIt concept]
- Pseudotumor cerebri [MedDRA LLT]
- Pseudotumour cerebri [MedDRA LLT]
- benign intracranial hypertension [SNOMED Notion]
- benign intracranial hypertension [Disease (Nov.)]
- pseudotumor cerebri [MeSH Descriptor]
- pseudotumor cerebri [MeSH concept]
- pseudotumor cerebri [Radlex concept]
- pseudotumor cerebri [DO Concept]

Keyword's position in hierarchy(ies) :

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