A case of familial third ventricular colloid cyst

Joshi, Shweta; Gnanalingham, Kanna; Mohaghegh, Pegah; Wilson, Ann Kathleen; Elsmore, A

doi:10.1136/emj.2004.018440

Cited by 29 publications

(23 citation statements)

References 10 publications

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“…Familial cases of these lesions is extremely rare. 3,4 There is a lack of evidence on the role of genetic factors in the development of these lesions. Insights into the function of "paired"-like homeodomain transcription factor (Prop1) in the development of Rathke's pouch, the pituitary primordium, have been described in mice.…”

Section: Resultsmentioning

confidence: 99%

A Familial Case of Spontaneous Regression of Colloid Cyst of the 3rd Ventricle on Magnetic Resonance Imaging

Agrawal¹,

Grivas²,

joseph³

2020

Radiol Open J

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A 21-year-old male underwent screening for a positive family history of colloid cyst with an MRI scan. This suggested a lesion in the region of the roof of his 3 rd ventricle which was confirmed on a computerized tomography (CT) scan as a colloid cyst measuring 6 mm. Seven-years before his evaluation, the patient's father was found to have an approximately 20 mm colloid cyst with acute hydrocephalus for which he underwent excision. His sister suffered a sudden death at the age of 25. The cause of death was confirmed on autopsy as a colloid cyst which was undiagnosed and associated with acute hydrocephalus. At the time of evaluation, the patient was asymptomatic. On serial imaging in 1-year, there was a definite increase in size of the colloid cyst which now measured 8 mm along its maximum dimension. The colloid cyst also changed in signal intensity appearing more hyperintense on T2-weighted images and fluid-attenuated inversion recovery (FLAIR) sequence. A serial magnetic resonance imaging (MRI) was performed in 18-months as a part of ongoing surveillance with neuroimaging following the first presentation. This demonstrated a decrease in size and change in the shape of the colloid cyst, measuring 5 mm in maximum dimension, with associated decrease in ventricular size and resolution of hydrocephalus suggesting some spontaneous rupture of the colloid cyst. A CT head with unenhanced volume acquisition of the head demonstrated residual partially international organization for standardization (ISO), partially hyperdense colloid cyst seen at the foramen of Monro. This confirmed the findings of MRI with a decrease in size of residual colloid cyst measuring approximately 5 mm in maximal diameter with no residual hydrocephalus.

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Section: Resultsmentioning

confidence: 99%

A Familial Case of Spontaneous Regression of Colloid Cyst of the 3rd Ventricle on Magnetic Resonance Imaging

Agrawal¹,

Grivas²,

joseph³

2020

Radiol Open J

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“…Familial colloid cysts are extremely rare; only around 30 cases were mentioned in the literature [7][8][9][10][11][12][13]. With the presented cases there will be until now 5 registered pairs of twins with colloid cysts with a total of four monozygotic twins and one dizygotic twin.…”

Section: Discussionmentioning

confidence: 99%

“…Most of the familial colloid cysts were treated operatively, although few cases were treated conservatively, with regular radiological follow up [7][8][9]. To our knowledge, only 4 pairs of twins with colloid cyst have been previously reported in the literature, three of which are monozygotic and the other one is dizygotic [10][11][12][13].…”

mentioning

confidence: 98%

Familial Colloid Cyst of the Third Ventricle in Monozygotic Twins

Alfieri¹

2017

JNSK

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J Neurol Stroke 2017, 6(6): 00219 mm versus 8 mm), 3) ventricular dilation (83% versus 31%),and 4) increased signal on T2-weighted magnetic resonance images (44% versus 8%) [1]. More than half of cases were discovered incidentally. In five patients with incidental cysts (8.8%) an enlargement of the cyst was documented and a surgical procedure was done. Nearly half of symptomatic patients present hydrocephalus, more than 10% present an acute symptom, and 1% of patients decease due to obstructive hydrocephalus and herniation [1].Some familial cases were previously reported, including monozygotic and dizygotic twins. Most of the familial colloid cysts were treated operatively, although few cases were treated conservatively, with regular radiological follow up [7][8][9]. To our knowledge, only 4 pairs of twins with colloid cyst have been previously reported in the literature, three of which are monozygotic and the other one is dizygotic [10][11][12][13].In this report, we present the fourth monozygotic twins with this potentially life-threatening pathology. The two brothers were operated four years apart after presenting with different clinical scenarios. Clinical Presentation Brother AThe 31-years-old (Figure 1) patient was admitted to a hospital in another country in 2012 following a generalized tonic-clonic seizure. After first stabilization the patient was neurologically intact without any signs and symptoms of increased intracranial pressure. A prophylactic antiepileptic therapy with levitracetam was initiated. An MRI was done and showed an isointense in T1 and T2WI and a hyperintense mass in the fluid attenuated inversion recovery sequence suggesting the diagnosis of a colloidal cyst of the third ventricle causing the pathognomonic obstructive hydrocephalus involving only the lateral ventricles (Figures 2-5).

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“…Related to its various proposed embryologic origins, other names for this tumor have been reported in the literature including paraphyseal and neuroepithelial cysts (Hwang et al, 1996). Family cases are rare but reported in the literature probably accompanied by autosomal dominant transmission (Joshi et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Sudden death due to intracranial colloid cyst: About three cases

Belhadj¹,

Thaljawi²,

Chkirben³

et al. 2015

J. Clin. Pathol. Forensic Med.

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The colloid cyst is a rare and benign congenital intracranial tumor, commonly located in the anterior part of the third ventricle. It is a rare cause of sudden death whose mechanisms of occurrence are still been discussed. We report three cases of sudden death due to colloid cyst(s) discovered at autopsy. Death occurred in a man and two women, aged 45, 43 and 33 years, respectively. Pre-mortem symptoms were mainly headache and/or syncope. The autopsy revealed the presence of colloid cyst(s) of the anterior part of the third ventricle, confirmed by a histological examination. A cerebral edema was found in two cases, and hydrocephalus in one case. We raise the clinical and pathological features of this tumor, and we discuss the mechanisms of death.

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A case of familial third ventricular colloid cyst

Cited by 29 publications

References 10 publications

A Familial Case of Spontaneous Regression of Colloid Cyst of the 3rd Ventricle on Magnetic Resonance Imaging

A Familial Case of Spontaneous Regression of Colloid Cyst of the 3rd Ventricle on Magnetic Resonance Imaging

Familial Colloid Cyst of the Third Ventricle in Monozygotic Twins

Sudden death due to intracranial colloid cyst: About three cases

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