Síndrome PURA en una niña con retraso grave del desarrollo: un diagnóstico desafiante

Nogueira, Mayara; Melo, Celine de; Grangeia, Ana; Magalhães, Thereza Maria; Soares, Carolina; Dias, Rui; Fonseca, João; Sampaio, Mafalda; Rodrigues, Sousa

doi:10.33588/rn.7405.2021068

Cited by 2 publications

(1 citation statement)

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“…We included altogether 193 PURA-related neurodevelopmental disorder (PURA-NDD) patients; among them, 10 with 5q31.3 microdeletion syndrome and 183 with point variants in PURA locus only from 27 studies [6][7][8][9][34][35][36][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57]. The biggest study contained 67 participants, and there were 17 single case reports included.…”

Section: Resultsmentioning

confidence: 99%

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Mroczek

Iyadurai

2023

IJMS

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PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements, and epilepsy. It is generally considered to be central nervous system disorders, with generalized weakness, associated hypotonia, cognitive and development deficits in early development, and seizures in late stages. Although it is classified predominantly as a central nervous syndrome disorder, some phenotypic features, such as myopathic facies, respiratory insufficiency of muscle origin, and myopathic features on muscle biopsy and electrodiagnostic evaluation, point to a peripheral (neuromuscular) source of weakness. Patients with PURA-NDD have been increasingly identified in exome-sequenced cohorts of patients with neuromuscular- and congenital myasthenic syndrome-like phenotypes. Recently, fluctuating weakness noted in a PURA-NDD patient, accompanied by repetitive nerve stimulation abnormalities, suggested the disease to be a channelopathy and, more specifically, a neuromuscular junction disorder. Treatment with pyridostigmine or salbutamol led to clinical improvement of neuromuscular function in two reported cases. The goal of this systematic retrospective review is to highlight the motor symptoms of PURA-NDD, to further describe the neuromuscular phenotype, and to emphasize the role of potential treatment opportunities of the neuromuscular phenotype in the setting of the potential role of PURA protein in the neuromuscular junction and the muscles.

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Section: Resultsmentioning

confidence: 99%

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Mroczek

Iyadurai

2023

IJMS

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Haploinsuficiencia de la proteína PUR-α por la mutación de novo de cambio de sentido c.692T>C (p-Phe231Ser) del gen PURA: primer reporte en Colombia

Cerón,

Pérez,

Montaño

et al. 2024

Biomed.

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Se presenta el primer caso documentado en Colombia del síndrome PURA, una enfermedad neurológica rara. Esta afección resulta de mutaciones del gen PURA, localizado en el cromosoma 5, que producen haploinsuficiencia de la proteína PUR-α. Esta proteína es esencial para el desarrollo temprano del cerebro y la función neuronal.El paciente, un niño de siete años, comenzó a presentar movimientos distónicos de las manos a los 14 días de vida. A los seis años, se le diagnosticó retraso en el neurodesarrollo, hipotonía generalizada, episodios frecuentes de apnea y dificultad para la deglución.Aunque inicialmente se consideraron otras condiciones, como la distrofia muscular de Duchenne y la lipofuscinosis ceroidea neuronal, la secuenciación completa del exoma reveló la variante patógena c.692T>C (p.Phe231Ser) en el exón 1 del gen PURA, no registrada previamente en otros pacientes. Este hallazgo permitió un enfoque de manejo integral, con el cual se abordaron las características y alteraciones clínicas del paciente.Dado que el síndrome PURA no figura en la lista de enfermedades huérfanas o raras reconocidas por el Ministerio de Salud y Protección Social de Colombia, este reporte podría influir en su reconocimiento oficial.El caso demuestra la importancia de considerar diagnósticos raros en pacientes con síntomas neurológicos poco comunes y subraya la utilidad de la secuenciación genómica para el diagnóstico. Además, enfatiza la necesidad de colaboración en el área de la salud para optimizar el cuidado de los pacientes con síndrome PURA y otras enfermedades semejantes.

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Síndrome PURA en una niña con retraso grave del desarrollo: un diagnóstico desafiante

Cited by 2 publications

References 0 publications

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Haploinsuficiencia de la proteína PUR-α por la mutación de novo de cambio de sentido c.692T>C (p-Phe231Ser) del gen PURA: primer reporte en Colombia

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