Asymptomatic Hypothalamic Hamartoma Associated with an Arachnoid Cyst —Case Report—

Isaka, Toshihiko; Nakatani, Susumu; Yoshimine, Toshiki; Akai, Fumiharu; Taneda, Mamoru

doi:10.2176/nmc.36.725

Cited by 18 publications

(15 citation statements)

References 12 publications

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“…A reported case of hypothalamic hamartoma without direct connection with the hypothalamus 16 differed from the interpeduncular lesions in our patients by the lack of a broad contact to the mesencephalon, T2-hyperintensity relative to cortex, and a macroscopically cystic area.…”

Section: Discussioncontrasting

confidence: 73%

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding

Harting

Kotzaeridou

Poretti³

et al. 2011

AJNR Am J Neuroradiol

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SUMMARY:The so-called molar tooth sign is the radiologic hallmark of JSRD. Joubert syndrome is a rare, most often autosomal-recessive disorder with a characteristic malformation of the midhindbrain. We describe 3 patients with JSRD and the additional MR finding of tissue resembling heterotopia in the interpeduncular fossa, which in one patient was combined with a more extensive intramesencephalic heterotopia. Interpeduncular heterotopia has not been reported previously, either in the context of JSRD or as a separate entity. This new imaging feature enlarges the spectrum of brain stem abnormalities in JSRD. In view of the underlying ciliopathy, it seems likely that the interpeduncular heterotopia results from misdirected migration.ABBREVIATIONS: CNS ϭ central nervous system; GE ϭ gradient-echo; JSRD ϭ Joubert syndrome and related disorders; T1WI, T1-weighted imaging; T2WI ϭ T2-weighted imaging J oubert syndrome is a rare disorder (estimated prevalence 1/100 000) with a characteristic complex malformation of the midbrain-hindbrain, seen as the so-called molar tooth sign on axial imaging. This results from vermis hypoplasia, a deep interpeduncular fossa and thickened, elongated, abnormally horizontal superior cerebellar peduncles.1 Joubert syndrome is clinically characterized by cognitive impairment, hypotonia, and later evolving ataxia. An irregular breathing pattern in infancy and ocular apraxia are inconsistent, though typical findings. JSRD comprises all disorders with the molar tooth sign on imaging, namely, classical Joubert syndrome and further, related disorders with additional CNS, ocular, renal, hepatic, and/or skeletal manifestations.The molar tooth sign is the mandatory criterion to diagnose JSRD. Although additional CNS changes may be present, interpeduncular heterotopia has not been described previously, either in conjunction with JSRD or as a separate entity. We present 3 patients with JSRD and a distinct interpeduncular heterotopia. CasesPatient 1 is the only child of unrelated Turkish parents. She presented with episodes of tachypnea and nystagmus in the neonatal period. Subsequently, global developmental delay and muscular hypotonia were noted. Ophthalmologic examination revealed diffuse retinal dystrophy. MR imaging at the age of 10 months confirmed the suspected diagnosis by demonstrating the diagnostic molar tooth sign. Molecular genetics revealed a homozygous mutation of CEP290, which is identified in approximately 50% of patients with the oculo-renal form of JSRD.2 There was no evidence of renal and/or hepatic involvement. At 26 months, her ability to maintain head and truncal control had significantly improved, and her respiration normalized. Neurologic examination revealed persisting profound muscular hypotonia and lack of spontaneous movements, horizontal nystagmus, and lack of fixation due to severely reduced visual acuity.In addition to the characteristic molar tooth sign, MR imaging revealed a circumscribed, nodular structure within the interpeduncular fossa. This was isointense to gray...

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Section: Discussioncontrasting

confidence: 73%

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding

Harting

Kotzaeridou

Poretti³

et al. 2011

AJNR Am J Neuroradiol

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“…Sixty cases have been reported including ours, 14,18,30) but only 16 have been adults 2,4,5,13,14,18,19,22,25,27,33,36) (Table 1). Infratentorial arachnoid cysts are mostly congenital, 11,34) although acquired pathologies such as diverticulum from ventricles (due to increased intraventricular pressure), 22) inflammation, 7,22,37) and trauma 7,21,22) are also causative mechanisms.…”

Section: Discussionmentioning

confidence: 93%

“…Other symptoms include Parinaud's syndrome, 9,15,17,19,33) visual disturbances, 4,18,19,21,33,36) nystagmus, 4,12,19,21) hearing deficits, 19) hemiparesis, 33) paraparesis, 23) generalized spasticity, 7,23,25) clonus, diplopia caused by trochlear nerve, 26,27) lateral rectus palsy (due to intracranial hypertension), 23) and precocious puberty. 9) Our patient presented with memory and gait disturbances, and sphincter incontinence of chronic duration, all consistent with NPH, which was considered to be due to aqueduct stenosis.…”

Section: Discussionmentioning

confidence: 99%

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Unusual Arachnoid Cyst of the Quadrigeminal Cistern in an Adult Presenting With Apneic Spells and Normal Pressure Hydrocephalus. Case Report.

Topsakal

Kaplan

Erol

et al. 2002

Neurol. Med. Chir.(Tokyo)

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A 67-year-old woman was admitted to our clinic with symptoms of normal pressure hydrocephalus, lower cranial nerve pareses, and pyramidal and cerebellar signs associated with respiratory disturbances. Computed tomography (CT) and magnetic resonance imaging revealed a 4.7 × 5.4 cm quadrigeminal arachnoid cyst causing severe compression of the tectum and entire brain stem, aqueduct, and cerebellum, associated with moderate dilation of the third and lateral ventricles. Emergency surgery was undertaken due to sudden loss of consciousness and impaired breathing. The cyst was totally removed by midline suboccipital craniotomy in the prone position. Postoperatively, her symptoms improved except for the ataxia and impaired breathing. She was monitored cautiously for over 15 days. CT at discharge on the 18th postoperative day revealed decreased cyst size to 3.9 × 4.1 cm. Histological examination confirmed the diagnosis of the arachnoid cyst of the quadrigeminal cistern. The patient died of respiratory problems on the 5th day after discharge. Quadrigeminal arachnoid cysts may compress the brain stem and cause severe respiratory disturbances, which can be fatal due to apneic spells. Patients should be monitored continuously in the preoperative and postoperative period until the restoration of autonomous ventilation is achieved.

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“…41 Surprisingly, there are anecdotal case reports on HHs associated with arachnoid cysts. 17,23,31,36 Hence, it is important to distinguish a suprasellar arachnoid cyst from a cystic HH.…”

Section: Cystic Changes In Hhmentioning

confidence: 99%

Hypothalamic hamartoma simulating a suprasellar arachnoid cyst: resolution of precocious puberty following microsurgical lesion resection

Manjila

Vogel

Chen

et al. 2014

PED

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Hypothalamic hamartomas (HHs) are rare developmental lesions arising from the inferior hypothalamus that may cause gelastic seizures and central precocious puberty. Cystic changes in HHs are rare, usually occurring in giant lesions. The authors describe an unusual case of cystic HH masquerading as a suprasellar arachnoid cyst in an 18-month-old girl presenting with precocious puberty. Microsurgical removal of the lesion led to complete resolution of the precocious puberty on long-term follow-up. This case is the first reported HH with pathological demonstration of corticotropin-releasing hormone immunostaining in the solid tumor and glial cells in the cyst wall of the lesion. The clinical and radiological characteristics of HHs are reviewed, along with the unique surgical strategies used to manage cystic lesions in the suprasellar region.

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Asymptomatic Hypothalamic Hamartoma Associated with an Arachnoid Cyst —Case Report—

Cited by 18 publications

References 12 publications

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding

Unusual Arachnoid Cyst of the Quadrigeminal Cistern in an Adult Presenting With Apneic Spells and Normal Pressure Hydrocephalus. Case Report.

Hypothalamic hamartoma simulating a suprasellar arachnoid cyst: resolution of precocious puberty following microsurgical lesion resection

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