Diverticular Enlargement of Foramen of Luschka and Hydrocephalus in Child with Noonan Syndrome

Spennato, Pietro; Sacco, Matteo; Cinalli, Giuseppe

doi:10.1016/j.wneu.2019.02.054

Cited by 6 publications

(4 citation statements)

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“…Spennato and colleagues (2019) from Italy reported a five-year old with boy an unusual association of Noonan syndrome and tetraventricular hydrocephalus, caused by fourth ventricle outlet obstruction. Magnetic resonance imaging showed a diverticular enlargement of the left foramen of Luschka, with compression of the facial nerve that resolved following treatment of hydrocephalus by endoscopic third ventriculostomy [9].…”

Section: Resultsmentioning

confidence: 98%

“…The girl had the following features: 1-Poor feeding, and growth retardation. Cerebral abnormalities have been rarely associated with Noonan syndrome [2][3][4][5][6][7][8][9]. Heye and Dunne (1995) reported the association of Noonan syndrome with hydrocephalus, hindbrain herniation, and upper cervical intracord cyst [5].…”

Section: Resultsmentioning

confidence: 99%

“…Many infants with Noonan syndrome also have heart (cardiac) defects which can help in making early diagnosis. Cerebral abnormalities have been rarely associated with this syndrome [1][2][3][4][5][6][7][8][9]. The aim of this paper is report the rare occurrence of cerebral abnormalities in an Iraqi girl with Noonan syndrome.…”

Section: Introductionmentioning

confidence: 99%

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Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

Al-Mosawi¹

2019

JCRR

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Background: Noonan syndrome is congenital syndrome that occur sporadically or inherited as an autosomal dominant disorder, and is associated with a wide spectrum of clinical manifestations that vary greatly in range and severity including facial dysmorphism with low set ears, bulbous nose, micrognathia, and thick upper eyelids, mental retardation, nuchal folding, a low posterior hairline, high arched palate and widely space nipples. Cerebral abnormalities have been rarely associated with this syndrome. The aim of this paper is report the rare occurrence of cerebral abnormalities in an Iraqi girl with Noonan syndrome. Methods: A ten month girl with dysmorphic features, growth retardation and psychomotor retardation was studied. Results: The girl had a sporadic form of Noonan with predominant cerebral manifestations and without congenital heart defect. She had growth and psychomotor retardation, hypotonia, craniofacial dysmorphism with low set ears, bulbous nose, thick upper eyelid, high arched palate, and micrognathia. She also had widely space nipples, nuchal folding and a low posterior hairline. CT-scan showed ventriculopathy with evidence of brain atrophy. Conclusion: This paper reported a very rare association of Noonan syndrome with CT-scan evidence of ventriculopathy and brain atrophy in an Iraqi girl.

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Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

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Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

Al-Mosawi¹

2019

JCRR

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“…Our patient had a rare form of hydrocephalus: the FVOO that means the simultaneous obstruction of cerebrospinal fluid at Magendie and Luschka foramina [13]. In our department, we have seen another pediatric case of FVOO, associated with Noonan syndrome [14]. In children, FVOO is commonly congenital (primary form) while in adults it is acquired, due to inflammatory pathologies, intraventricular hemorrhage, head trauma, brain tumors, or Chiari malformation [15].…”

Section: Discussionmentioning

confidence: 99%

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

et al. 2020

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Introduction: Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. Case Presentation: We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magendie foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. Conclusion: Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

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The endoscopic treatment of fourth ventricle outlet obstruction: Report of two children and systematic review

Mulhem,

Alsulaiman,

Hammersen

et al. 2023

Clinical Case Reports

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Key Clinical MessageFourth ventricle outlet obstruction (FVOO) is a rare cause of hydrocephalus. In the last century, the standard treatment was the suboccipital craniotomy with magendieplasty or ventriculoperitoneal shunt (VP shunt). Since the beginning of the 21st century, the endoscopic third ventriculostomy (ETV) has been considered a less invasive alternative. The medical literature lacks sufficient reports of FVOO cases and strong evidence about ETV's efficacy in treating this condition. We report two cases of FVOO treated with ETV and review published similar cases. Clinical and radiological findings of two FVOO cases with outcomes after ETV were presented. Moreover, we conducted a systematic review after protocol registration in PROSPERO (CRD42021281474). MEDLINE, Embase, Scopus, and Web of Science were searched from inception till December 31, 2022. Studies were included if they reported cases of FVOO treated initially with ETV. Cases with Chiari malformation, Dandy‐Walker malformation, tuberous sclerosis, trapped fourth ventricle, or space‐occupying lesions were excluded. Two reviewers independently examined title/abstract records in the first stage and full‐text publications in the second for eligibility. The primary outcome was the recurrence rate, defined by the need for re‐ETV or other invasive treatments (e.g., VP shunt or magendieplasty). Other outcomes included clinical state at follow‐up and mortality. Two cases, a 3‐year‐old male and 3.5‐year‐old female, with FVOO, were treated with ETV in our department by the same neurosurgeon (SH) in 2013 and 2021. Both cases improved significantly after ETV, and there was no recurrence through the follow‐up. Besides the present cases, we found 57 other cases of FVOO treated with ETV reported in 17 studies between 2001 and 2021. The median age was 26 years, with an IQR from 2.4 to 59 years, and 56% of cases were females. The recurrence rate was 32% in the sample (19 out of 59), with a 95% CI from 21% to 46%. The median time to recure was 2 months with IQR from 1.25 to 26. A VP shunt was the treatment for recurrence in 68% and a re‐ETV in 32%. At the follow‐up (41 ± 29 months), only one case died, and one deteriorated clinically. FVOO is a rare cause of hydrocephalus encountered mainly in the first or sixth decades of life. ETV provides the first reasonable treatment. Despite the moderate recurrence rate, the outcomes are favorable.

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Diverticular Enlargement of Foramen of Luschka and Hydrocephalus in Child with Noonan Syndrome

Cited by 6 publications

References 3 publications

Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

The endoscopic treatment of fourth ventricle outlet obstruction: Report of two children and systematic review

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