A CASE OF FAMILIAL TYPE IIa HYPERLIPOPROTEINEMIA WITH A HUGE INTRACRANIAL XANTHOMA, HYPERTENSION, AND PERIARTICULAR BONE LESIONS

Akazawa, Shoichi; Kurata, Akihiko; Ikeda, Yoshihiko; Toyama, Kyoko; Miyake, Seibei; Takamori, Masaharu; Takaoka, Y.

doi:10.2169/naika.69.867

Cited by 7 publications

(3 citation statements)

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“…Our patient lived longer than most untreated homozygous patients, and it is therefore likely that the portacaval anastomosis performed at age 15 delayed progression of coronary artery disease. Two other cases of intracranial xanthomas have been reported (Akazawa 1980, Rees et al 1984, one of which (Rees et al 1984), also located in the posterior fossa, had caused symptoms of increased intracranial pressure.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation

Jensen

Heath

et al. 1996

Clinical Genetics

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We describe the clinical, biochemical, and genetic features of a patient with true homozygous familial hypercholesterolemia due to the D558N low‐density lipoprotein receptor gene mutation, previously designated FH Cincinnati‐4. Functional flow‐cytometric analysis of the LDL receptorR protein on upregulated EB V‐transformed lymphocytes indicated reduction of the number of receptors on the cell surface by 87% and reduction of receptor activity by 89% compared to control cells. With drugs and a portacaval shunt operation, performed when the patient was 15 years old, serum cholesterol was reduced from about 28 to about 15 mmol/l. He died at the age of 32 of a myocardial infarction. The autopsy showed generalized atherosclerosis, especially in the coronary arteries, which were severely stenosed proximally. A rare finding was a large intracranial xanthoma that apparently had been asymptomatic.

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Section: Discussionmentioning

confidence: 99%

Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation

Jensen

Heath

et al. 1996

Clinical Genetics

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“…In contrast to plexus xanthogranulomas, which are generally idiopathic, dural xanthogranulomas are usually associated with histiocytosis X, familial hyperlipoproteinemia, Weber-Christian disease or ErdheimChester's disease, none of which were present in our case. 7,9,11,[13][14][15][16] Most cases of intracranial xanthogranuloma are asymptomatic and are found incidentally in the lateral ventricles. 4 Xanthogranulomas can cause sudden death due to acute hydrocephalus and herniation, as well as due to massive hematomas causing hypothalamus inhibition when they are located in the third ventricle.…”

Section: Discussionmentioning

confidence: 99%

Symptomatic bilateral cerebellar mass lesions: An unusual presentation of intracranial xanthogranuloma

Kasliwal

Suri

Rishi

et al. 2008

Journal of Clinical Neuroscience

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“…In contrast to plexus xanthogranulomas, dural xanthogranulomas are B D 217 SKULL BASE SURGERY/VOLUME 8, NUMBER 4 1998 usually associated with histiocytosis X or familial hyperlipoproteinemia. [7][8][9][10][11]14,15 …”

Section: Pathologic Examinationmentioning

confidence: 99%

Xanthogranuloma of the Anterior Skull Base: A Case Report

Rössler¹,

Novak²,

Jarius³

et al. 1998

Skull Base

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ExaminationPhysical examination revealed a protrusion of the left bulbus and a reduction of vision down to 40% in the affected eye. Compted tomography (CT) and magnetic resonance omaging (MRI) scans of the head showed a 2 X 2 X 1 cm non-contrast-enhancing mass, enlarging the left supraorbital rim and compressing the orbital gyruses and the ocular globe (Fig. 1). The periorbital periosteum appeared to be intact, and the dura mater was not clearly identifiable. An infiltration of the brain was not seen, but the orbital roof and the zygomatic process of the frontal bone were destroyed, apparently due to prolonged pressure. The lateral wall of the frontal sinus was intact. A T2-weighted MRI demonstrated a high liquid content in this mass (Fig. IC, D

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A CASE OF FAMILIAL TYPE IIa HYPERLIPOPROTEINEMIA WITH A HUGE INTRACRANIAL XANTHOMA, HYPERTENSION, AND PERIARTICULAR BONE LESIONS

Cited by 7 publications

References 0 publications

Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation

Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation

Symptomatic bilateral cerebellar mass lesions: An unusual presentation of intracranial xanthogranuloma

Xanthogranuloma of the Anterior Skull Base: A Case Report

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