Anaesthetic management of Mowat-Wilson syndrome

Deshmukh, Amit Sudhir; Kelkar, Kalpna Vinod; Khedkar, Sunita M; Gavali, Yogesh

doi:10.4103/0019-5049.179472

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…It is recommended to carry out an examination of patient’s cardiac function before any procedure; in case of cardiac malformation, antibiotic prophylaxis for bacterial endocarditis is required. Furthermore, in according to Deshmukt et al ., 21 the main anesthetic challenges in MW syndrome are a risk of difficult intubation and possibility of difficulty in weaning, lower respiratory tract infection and anemia .…”

Section: Discussionmentioning

confidence: 99%

Anesthesia in Mowat-Wilson Syndrome: Information on 11 Italian Patients

Spunton¹,

Garavelli

Mainardi

et al. 2018

Pediatric Reports

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Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized by typical clinical features. The congenital malformations typical of this syndrome call for early diagnostic and surgical procedures requiring general anesthesia, but few information about the anesthesiology management of such patients is available. We enrolled 11 families of patients with Mowat-Wilson syndrome who had undergone surgical or diagnostic procedures requiring general anesthesia, and sent them a retrospective questionnaire including 16 open questions about the procedures. They were further contacted by phone for a semistructured interview. A total of 37 procedures requiring general anesthesia was reported in 11 patients. Only two patients reported anesthesia-related complications during the procedure. No true additional anesthesiarelated risk was present for the patients with MW syndrome, besides difficult intubation, weaning and lower respiratory tract infection. Perception of risk, however, is derived by non-medical observation on the part of the parents.

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Section: Discussionmentioning

confidence: 99%

Anesthesia in Mowat-Wilson Syndrome: Information on 11 Italian Patients

Spunton¹,

Garavelli

Mainardi

et al. 2018

Pediatric Reports

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“…Редкие случаи. Описаны единичные случаи осложнений анестезии из-за узких дыхательных путей [8], холестаз [6], медуллобластома и глиобластома [23], рабдомиосаркома [20].…”

Section: рис 3 генеалогическое древо короля испании карла II (1661-1700) пояснения в текстеunclassified

Mowat-Wilson syndrome: literature review and case series

Bobylova¹,

Какаулина²,

Abramov³

et al. 2021

Rus. ž. det. nevrol.

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Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by a combination of the following signs: 1) facial dysmorphism (wide nose, broad medial eyebrows, pronounced chin, and open mouth); 2) mental retardation; 3) abnormalities of internal organs (congenital heart defects, Hirschsprung's disease, hypospadias/cryptorchidism). The disease is associated with a heterozygous pathogenic mutation in the ZEB2 gene. More than 80 % of MWS patients are diagnosed with epilepsy, the onset of which is usually observed in infancy. Patents have focal motor seizures, atypical absence seizures, generalized convulsive seizures. Epileptic seizures are often triggered by fever; some children are resistant to therapy. MWS patients have a specific phenotype (blue eyes, fair hair, wide-based gait, frequent laughter, limited or absent expressive language) that requires differential diagnosis with Angelman syndrome (caused by a mutation in the UBE3A gene). MWS was described in 1998, but there have been no case reports in the Russian literature yet. We report 4 cases of MWS in children aged 2 to 13 years treated in the Svt. Luka's Institute of Neurology and Epilepsy. In all of these patients, we identified a heterozygous de novo deletion in the ZEB2 gene. Epilepsy was observed in all patients. Mean age at onset was 13 months. All children had focal motor seizures and atypical absence seizures. None of them had tonic-clonic seizures or status epilepticus. The analysis of electroencephalograms showed that patients with a lower index of epileptiform activity tend to have better development and vice versa: children with a high index of epileptiform activity during sleep had more severe developmental delay.

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Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management

Zhoulideh,

Joolideh

2024

Egypt J Med Hum Genet

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Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.

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Anaesthetic management of Mowat-Wilson syndrome

Cited by 3 publications

References 6 publications

Anesthesia in Mowat-Wilson Syndrome: Information on 11 Italian Patients

Anesthesia in Mowat-Wilson Syndrome: Information on 11 Italian Patients

Mowat-Wilson syndrome: literature review and case series

Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management

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