scholarly journals Muenke syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Muenke Syndrome

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

2019 ◽  
Vol 24 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Bianca K. den Ottelander ◽  
Robbin de Goederen ◽  
Marie-Lise C. van Veelen ◽  
Stephanie D. C. van de Beeten ◽  
Maarten H. Lequin ◽  
...  
Keyword(s):  
Treatment Protocol ◽  
First Year ◽  
Ventricular Size ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Skull Growth ◽  
Muenke Syndrome ◽  
First Year Of Life

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

A patient with Muenke syndrome manifesting migrating neonatal seizures

2017 ◽  
Vol 39 (10) ◽  
pp. 873-876 ◽  
Author(s):  
Yukimune Okubo ◽  
Taro Kitamura ◽  
Mai Anzai ◽  
Wakaba Endo ◽  
Takehiko Inui ◽  
...  
Keyword(s):  
Neonatal Seizures ◽  
Muenke Syndrome

scholarly journals Upward transtentorial herniation following frontoorbital advancement for syndromic craniosynostosis: case report

2015 ◽  
Vol 38 (5) ◽  
pp. E8
Author(s):  
Vivek Mehta ◽  
Joshua Bakhsheshian ◽  
Amir H. Dorafshar ◽  
Edward S. Ahn
Keyword(s):  
Posterior Fossa ◽  
Sinus Thrombosis ◽  
Autosomal Dominant Disorder ◽  
Craniofacial Reconstruction ◽  
Remote Cerebellar Hemorrhage ◽  
Transtentorial Herniation ◽  
Syndromic Craniosynostosis ◽  
Frontoorbital Advancement ◽  
Muenke Syndrome ◽  
Cerebral Sinus

The authors describe the case of a boy with Muenke syndrome, an autosomal dominant disorder associated with craniosynostosis. The family history was significant for syndromic craniosynostosis in the patient’s maternal grandmother, who died in adulthood after a craniofacial reconstruction. The patient, her grandson, underwent craniofacial reconstruction surgery at the age of 9 months and developed upward transtentorial herniation. Imaging findings revealed remote cerebellar hemorrhage after a large quantity of supratentorial CSF was drained during postoperative Day 1. The clinical course was further complicated by cerebral sinus thrombosis, which was diagnosed after a fourth surgical procedure. Upward transtentorial herniation can occur when a significant increase in intracranial pressure in the posterior fossa causes displacement of the central lobule and superior surfaces of the cerebellum upward through the incisura tentorii. This is a rare but well-documented phenomenon that commonly occurs in the setting of an expansive posterior fossa lesion or excessive supratentorial CSF loss. To help clinicians recognize and prevent this rare but potentially fatal complication, the authors review the postulated mechanisms by which this process may occur.

scholarly journals Muenke syndrome: Medical and surgical comorbidities and long‐term management

2019 ◽  
Author(s):  
Chaya N. Murali ◽  
Donna M. McDonald‐McGinn ◽  
Tara Lynn Wenger ◽  
Carey McDougall ◽  
Bridget M. Stroup ◽  
...  
Keyword(s):  
Muenke Syndrome ◽  
Term Management

Muenke Syndrome Associated With Multiple Osteochondromas

2012 ◽  
Vol 23 (2) ◽  
pp. e115-e117 ◽  
Author(s):  
Simon G. Talbot ◽  
Joseph Upton ◽  
Gary F. Rogers
Keyword(s):  
Multiple Osteochondromas ◽  
Muenke Syndrome

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

2003 ◽  
Vol 120A (1) ◽  
pp. 88-91 ◽  
Author(s):  
Salvatore Grosso ◽  
Maria Angela Farnetani ◽  
Rosario Berardi ◽  
Gabriella Bartalini ◽  
Marilisa Carpentieri ◽  
...  
Keyword(s):  
Temporal Lobe ◽  
Medial Temporal Lobe ◽  
Muenke Syndrome

Prenatal diagnosis of craniosynostosis: Sonographic features of Muenke syndrome

2011 ◽  
Vol 31 (8) ◽  
pp. 770-771 ◽  
Author(s):  
A. Shaw ◽  
O. B. Petersen ◽  
L. S. Chitty
Keyword(s):  
Prenatal Diagnosis ◽  
Muenke Syndrome

scholarly journals Hearing loss in a mouse model of Muenke syndrome

2008 ◽  
Vol 18 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Suzanne L. Mansour ◽  
Stephen R.F. Twigg ◽  
Rowena M. Freeland ◽  
Steven A. Wall ◽  
Chaoying Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Model ◽  
Muenke Syndrome
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