疾患詳細

疾患詳細





243200
Intracranial hypertension, idopathic
(Pseudotumor cerebri)

頭蓋内高血圧, 本態性
(偽脳腫瘍)

遺伝子座:不明
遺伝形式:常染色体劣性

(症状)
(GARD)
<80%-99%>
 Increased intracranial pressure (頭蓋内圧増加) [HP:0002516] [03010]
<30%-79%>
 Allergy (アレルギー) [HP:0012393] [-]
 Obesity (肥満) [HP:0001513] [0132]
 Papilledema (乳頭浮腫) [HP:0001085] [06522]
<5%-29%>
 Abnormal emotion/affect behavior (情緒障害) [HP:0100851] [02205]
 Blurred vision (霧視) [HP:0000622] [06012]
 Diplopia (複視) [HP:0000651] [06004]
 Nausea (悪心) [HP:0002018] [01821]
 Photophobia (羞明) [HP:0000613] [06008]
 Scintillating scotoma (閃輝暗点) [HP:0010822] [06009]
 Sleep disturbance (睡眠障害) [HP:0002360] [0152]
 Visual loss (視力喪失) [HP:0000572] [06011]
 Vomiting (嘔吐) [HP:0002013] [01425]
<1%-4%>
 Back pain (背部痛]) [HP:0003418] [01420]
 Depressivity (うつ) [HP:0000716] [0206]
 Focal sensory seizure with olfactory features (嗅覚的特徴をもつ焦点性感覚性発作) [HP:0011161] [0250] [01405]
 Lethargy (嗜眠) [HP:0001254] [0151]
 Migraine (偏頭痛) [HP:0002076] [014141]
 Pulsatile tinnitus (拍動性耳鳴) [HP:0008629] [01424]
 Vertigo (眩暈] [HP:0002321] [01427]

 Autosomal recessive inheritance (常染色体劣性遺伝) [HP:0000007]
 Hypertension (高血圧) [HP:0000822] [01415]

(UR-DBMS)
【頭】本態性頭蓋内 高血圧
 偽脳腫瘍
【眼】乳頭浮腫

(ノート)
●Buchheit ら(1969) は, 乳頭浮腫 (偽脳腫瘍) を伴う本態性頭蓋内高血圧の姉妹2例を記載した
●Traviesa ら(1976) は, 姉妹3例を記載した
 患者は典型的若い女性で肥満があり, 妊娠または慢性機能障害性の至急出血にかかっていたかもしれない
●Johnston and Morgan (1991) は, 偽脳腫瘍と診断された母と娘4人中2例と, 交通性水頭症を生じた息子1例を記載した

Warner ら(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 ら(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.

(文献)
(1) Buchheit WA et al. Familial papilledema and idiopathic intracranial hypertension. New Eng. J. Med. 280: 938-942, 1969
(2) Howe J et al. Familial benign intracranial hypertension. Acta Neurochir. 29: 173-175, 1973
(3) Rothner A, Burst J: Pseudotumor cerebri: report of a familial occurrence. Arch. Neurol. 30: 110-111, 1974
(4) Traviesa DC et al. Familial benign intracranial hypertension. J. Neurol. Neurosurg. Psychiat. 39: 420-423, 1976
(5) Johnston I, Morgan MK: A familial coincidence of pseudotumor cerebri and communicating hydrocephalus. Neurosurgery 28: 727-729, 1991
(6) 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
(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

2004/01/09