Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

Grosso, Salvatore; Farnetani, M. A.; Berardi, Rosario; Bartalini, G.; Carpentieri, M L; Galluzzi, Paolo; Mostardini, Rosa; Morgese, G; Balestri, Paolo

doi:10.1002/ajmg.a.10171

Cited by 43 publications

(41 citation statements)

References 29 publications

(30 reference statements)

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“…The earliest report of epilepsy in a patient with Muenke syndrome was published in 2003, in which a patient was reported to have manifested early-onset seizures characterized by episodes of staring, facial cyanosis, loss of consciousness, and generalization, with hypertonia of the limbs [16]. Subsequent magnetic resonance imaging in this patient detected temporal lobe dysgenesis.…”

Section: Discussionmentioning

confidence: 99%

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Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Agochukwu¹,

Solomon²,

Gropman³

et al. 2012

Pediatric Neurology

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Epilepsy, a neurologic disorder characterized by the predisposition to recurrent unprovoked seizures, is reported in more than 300 genetic syndromes. Muenke syndrome is an autosomal-dominant craniosynostosis syndrome characterized by unilateral or bilateral coronal craniosynostosis, hearing loss, intellectual disability, and relatively subtle limb findings such as carpal bone fusion and tarsal bone fusion. Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Epilepsy rarely occurs in individuals with Muenke syndrome, and little detail is reported on types of epilepsy, patient characteristics, and long-term outcomes. We present seven patients with Muenke syndrome and seizures. A review of 789 published cases of Muenke syndrome, with a focus on epilepsy and intracranial anomalies in Muenke syndrome, revealed epilepsy in six patients, with intracranial anomalies in five. The occurrence of epilepsy in Muenke syndrome within our cohort of 58 patients, of whom seven manifested epilepsy, and the intracranial anomalies and epilepsy reported in the literature, suggest that patients with Muenke syndrome may be at risk for epilepsy and intracranial anomalies. Furthermore, the impact of Muenke syndrome on the central nervous system may be greater than previously thought.

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Section: Discussionmentioning

confidence: 99%

“…However, recent reports described several patients with Muenke syndrome and epilepsy [14,15]. Moreover, a 2003 report described early-onset temporal lobe-related epilepsy in a patient with Muenke syndrome associated with temporal lobe dysgenesis, likely contributory to the seizure focus [16]. …”

Section: Introductionmentioning

confidence: 99%

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Agochukwu¹,

Solomon²,

Gropman³

et al. 2012

Pediatric Neurology

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“…FEB2, SCNIA. and SCNIB [68][69][70][71], In addition, an ever-growing list of genes is known to influence hippocampal development [72][73][74][75]. All of these genes are candidates for analysis in the entity of SUDC in toddlers associated with hippocampal anomalies.…”

Section: Potential Triggering Factors Of Sudden Deathmentioning

confidence: 99%

Sudden Death in Toddlers Associated with Developmental Abnormalities of the Hippocampus: A Report of Five Cases

et al. 2007

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Sudden unexplained death in childhood (SUDC) is the sudden death of a child older than 1 year of age that remains unexplained after review of the clinical history, circumstances of death, and autopsy with appropriate ancillary testing. We report here 5 cases of SUDC in toddlers that we believe define a new entity associated with hippocampal anomalies at autopsy. All of the toddlers died unexpectedly during the night, apparently during sleep. Within 48 hours before death, 2 toddlers had fever, 3 had a minor upper respiratory tract infection, and 3 experienced minor head trauma. There was a history of febrile seizures in 2 (40%) and a family history of febrile seizures in 2 (40%). Hippocampal findings included external asymmetry and 2 or more microdysgenetic features. The incidence of certain microdysgenetic features was substantially increased in the temporal lobes of these 5 cases compared with the temporal lobes of 39 (control) toddlers with the causes of death established at autopsy (P < 0.01). We propose that these 5 cases define a potential subset of SUDC whose sudden death is caused by an unwitnessed seizure arising during sleep in the anomalous hippocampus and producing cardiopulmonary arrest. Precipitating factors may be fever, infection, and/or minor head trauma. Suggested risk factors are a history of febrile seizures and/or a family history of febrile seizures. Future studies are needed to confirm these initial findings and to define the putative links between sudden death, hippocampal anomalies, and febrile seizures in toddlers.

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“…Muenke syndrome is additionally associated with strabismus, low-frequency hearing impairment (mostly sensorineural) with 20% requiring a hearing aid, carpal and tarsal synostosis, brachydactyly, thick straight hair, and neurodevelopmental delay [Doherty et al, 2007;de Jong et al, 2010;Johnson and Wilkie, 2011;Kruszka et al, 2016]. Seizures are identified as an association with Muenke syndrome, but not related to increased ICP, and a cause theorised as temporal anomalies [Grosso et al, 2003;Agochukwu et al, 2012b]. The existence of elevated ICP through ophthamological surveillance is detected indicating a need for vault expansion, but at a reduced rate to the previously described syndromes.…”

Section: Muenke Syndromementioning

confidence: 99%

Syndromic Craniosynostosis: Complexities of Clinical Care

et al. 2019

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Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.

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Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

Cited by 43 publications

References 29 publications

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Sudden Death in Toddlers Associated with Developmental Abnormalities of the Hippocampus: A Report of Five Cases

Syndromic Craniosynostosis: Complexities of Clinical Care

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