Complex Movement Disorders in a Boy with PURA Syndrome

Lin, Shan-Ju; Lin, Yung‐Feng; Tsai, Cheng‐Hsien; Huang, Chiung‐Hui; Ho, Fangyi; Tsai, Shih‐Feng; Lin, Wei−Sheng

doi:10.1002/mdc3.13272

Cited by 5 publications

(11 citation statements)

References 7 publications

(8 reference statements)

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“…This variant was previously identified by Johannesen et al 11 ; however, several clinical symptoms reported by the group were absent from our case, including epilepsy (Table 1). Majority of the symptoms noted in the present case were consistent with those reported in other cases 3,4,6,11,18–24 . Reijnders et al 6 reported that even patients with the same mutation can present with different clinical symptoms, such as the presence or absence of epilepsy or congenital malformations.…”

Section: Discussionsupporting

confidence: 90%

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Noda,

Kido,

Misumi

et al. 2023

Clinical Case Reports

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Key Clinical MessageThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*). The clinical symptoms included microcephaly, brachygnathia, central and peripheral hypotonia, and developmental delay (non‐verbal), among others. On comparison with published literature, even patients with the same mutation present different clinical symptoms.AbstractThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*), whose symptoms included microcephaly, brachygnathia, the development of a high anterior hairline, hip dysplasia, strabismus, severe hypotonia, developmental delay (non‐meaningful verbal), feeding difficulties, and respiratory difficulties. His development ceased with age, such that his development at 10 years corresponded to an infant of 6 months. Moreover, even patients with the same variant can have different clinical symptoms, such as the presence or absence of epilepsy or congenital malformations. Therefore, we should follow his long‐term clinical course and provide medical support as necessary.

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Section: Discussionsupporting

confidence: 90%

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Noda,

Kido,

Misumi

et al. 2023

Clinical Case Reports

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“…This combination of hyperkinetic movements appears to be a hallmark of PS, as it confers a very distinctive particularity to the disease. 7,8 In other series, abnormal movements were detected in 23.9% 1 to 36% 5 of the patients. All reported patients exhibited hypotonia, feeding disorders, nystagmus, and a complex movement disorder.…”

Section: Discussionmentioning

confidence: 73%

“…The patient may present complex hyperkinetic movements, in which chorea-like dyskinesia may be the core movement, but often, associated with dystonic movements, myoclonus, hand stereotypies, and ataxia. 1,4,5,7,8 The presence of those movements is variable, but when present, can be very useful to the diagnosis. 7,8 In this study, we aimed to describe and discuss the complex phenomenology of the movements exhibited by four patients diagnosed with PS.…”

mentioning

confidence: 99%

“…1,4,5,7,8 The presence of those movements is variable, but when present, can be very useful to the diagnosis. 7,8 In this study, we aimed to describe and discuss the complex phenomenology of the movements exhibited by four patients diagnosed with PS. All patients' parents provided written consent for publication, video, and image.…”

mentioning

confidence: 99%

“…Movement disorders in PS are very rich phenomenologically. The patient may present complex hyperkinetic movements, in which chorea‐like dyskinesia may be the core movement, but often, associated with dystonic movements, myoclonus, hand stereotypies, and ataxia 1,4,5,7,8 . The presence of those movements is variable, but when present, can be very useful to the diagnosis 7,8 …”

mentioning

confidence: 99%

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Movement Disorders in PURA Syndrome: A Video Case Series

Crippa,

Bacheladenski,

Rodrigues

et al. 2023

Movement Disord Clin Pract

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BackgroundPURA syndrome is a rare genetic disorder characterized by neonatal hypotonia, neurodevelopmental delay, facial dysmorphism, epileptic seizures, complex movement disorders, among other features. Although many pathogenic variants have been reported, there is currently no clear genotype–phenotype association identified.CasesFour patients diagnosed with PURA syndrome, despite carrying different pathogenic variants, presented a similar mixed hyperkinetic movement disorder. The phenomenology presented a complex set of symptoms, including chorea, interspersed with dystonic and uncoordinated movements. All patients presented also hypotonia, nystagmus, feeding difficulties, craniofacial dysmorphisms. Hypersomnolence and breathing problems were common and observed in three patients, while seizures were found in three patients.ConclusionsPURA syndrome may be considered in the differential diagnosis of infants with severe hypotonia, feeding difficulties and severe developmental delay with epileptic seizures, that start to develop a mixed hyperkinetic movement disorder. These complex movements may be an important clue for the diagnosis of this rare disorder.

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