Tumor del cuerpo calloso como presentación de neurofibromatosis tipo 1 en un paciente y revisión de la bibliografía

Pascual-Castroviejo, I; Pascual-Pascual, Samuel Ignacio; Velazquez-Fragua, R.; Viaño, J.

doi:10.33588/rn.5509.2012472

Cited by 5 publications

(1 citation statement)

References 28 publications

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“…The molecular test to NF-1 is also useful in confirming the diagnosis in the case in patients with café-au-lait spots (98%) and with or without freckling (30%) and absence of a high prevalence of nervous system tumors Central [17]. They may be associated with learning disabilities and behavioral problems such attention disorder/ hyperactivity (TADH) but with less severe than NF1 [18][19][20] cognitive phenotype. Dysmorphic features as macrocephaly (42%), short stature and less frequent Noonan-like facial features, achromic spots, pectus excavatum, headache, convulsions, deafness, scoliosis.…”

Section: Discussionmentioning

confidence: 99%

A New de Novo Mutation Associated with Neurofibromatosis (NF-1)

González¹,

Rendón²,

Vilamizar³

et al. 2016

J Epilepsy

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Neurofibromatrosis type 1 (NF-1) in the most common neurocutaneous disease with a autosomal dominant inheritance pattern and a frequency of 1:3.500 lives births in the general population, regardless of race and sex. NF-1 is a progressive disorder characterized by multiples café-au-lait macules, neurofibromas, Lish nodules and others manifestations such as bone abnormalities, short stature, epilepsy, learning disabilities, hyperactivity, with a highly variable and unpredictable expression. Half of its cause comes from different mutations in a gene on chromosome 17, resulting in less or performance neurofibromin having the regulatory domain of tumor activity. The other 50% of the case are caused by de novo mutation.It is an infant 13 months old, no family history of neurofibromatosis, which features six café-au lait spots 1 cm of diameter in the legs, chest, auxiliary region a and short stature.The clinical diagnostic criteria of NF-1 were established by The National Institutes Heath Consensus Development Conference in 1987. It has been suggested that pathogenic mutation in the NF-1 gene be added to the list of diagnostic criteria, but not yet accepted.A molecular genetics study showed an alteration in exon 16 c.2540T>G (p.Leu847 Arg). No genetic alterations found in phenotypic parents.After six year of follow-up she was not observed clinical or radiographic abnormalities.The genetic study is mandatory for confirmation of the suspected diagnosis and to monitor de novo mutations that knowledge and phenotypic expression thereof.

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Section: Discussionmentioning

confidence: 99%

A New de Novo Mutation Associated with Neurofibromatosis (NF-1)

González¹,

Rendón²,

Vilamizar³

et al. 2016

J Epilepsy

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Identifying Lesions of the Corpus Callosum in Patients With Neurofibromatosis Type 1

Jandhyala,

Garcia,

Kim

et al. 2024

Pediatric Neurology

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Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Domingues

Isidoro

Rocha

et al. 2014

Case Reports in Genetics

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Background. Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500. Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500. The diagnosis of these disorders is complex because of its clinical and genetic heterogeneity. Case Report. We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency. Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous café-au-lait spots. Discussion. To the best of our knowledge this is the first report of complex I deficiency in a patient with neurofibromatosis type 1. It is very important to maintain a high index of suspicion for the diagnosis of mitochondrial disorders. In this patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis.

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Tumor del cuerpo calloso como presentación de neurofibromatosis tipo 1 en un paciente y revisión de la bibliografía

Cited by 5 publications

References 28 publications

A New de Novo Mutation Associated with Neurofibromatosis (NF-1)

A New de Novo Mutation Associated with Neurofibromatosis (NF-1)

Identifying Lesions of the Corpus Callosum in Patients With Neurofibromatosis Type 1

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

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