Brain MRI findings of older patients with Pallister–Killian syndrome

Saito, Yoshiaki; Masuko, Kaori; Kaneko, Kimiyoshi; Chikumaru, Yuri; Saito, Kazuyo; Iwamoto, Hiroko; Matsui, Akira; Aida, Noriko; Kurosawa, Kenji; Kuroki, Yoshikazu; Kimura, Seiji

doi:10.1016/j.braindev.2005.04.004

Cited by 14 publications

(10 citation statements)

References 15 publications

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“…Both patients reported by Saito et al 34 lost motor skills in adulthood but there was no evidence of regression in this study. Conversely, parents reported slow progress throughout life, with one individual toilet-training at 18 years.…”

Section: Discussioncontrasting

confidence: 49%

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Pallister-Killian syndrome: a study of 22 British patients

et al. 2015

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Twenty-two patients with Pallister-Killian syndrome, ranging from 4 months to 31 years were recruited and comprehensive data on each obtained. The birth incidence was 5.1 per million live births. Array CGH only suggested the diagnosis in 15.8% but buccal FISH could have made the diagnosis in 75.0%. There was no genotype-phenotype correlation in any of the tissues studied. This study shows that the high birth weights and profound intellectual disability classically described in Pallister-Killian syndrome are not universal. Mild or moderate intellectual disability was present in 27.6% of this cohort and all birth weights were within 2.67SD of the mean. New features which have not previously been recognised as part of Pallister-Killian syndrome include anhydrosis/hypohydrosis and episodic hyperventilation, suggesting involvement of the autonomic system.

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Section: Discussioncontrasting

confidence: 49%

“…Most reported individuals are young children, with only eight adolescents20 22 23 30–33 and nine adults,23 27 28 30 34 35 the oldest of whom was 45 years,27 reported in the medical literature. Some adults have developed hypertonia, contractures and scoliosis 4 30 34…”

Section: Introductionmentioning

confidence: 99%

Pallister-Killian syndrome: a study of 22 British patients

et al. 2015

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“…Moreover, our case generally showed progression, but very slow, in his motor development and this shows a parallel result to the paper by Blyth et al [1]. On the other hand, Saito et al [18], reported the adulthood of two cases with PKS and stated a regression in the motor skills of these cases that lost their ability to stay sitting or to rollover following adolescence. Therefore, further research is required to get evidence and to determine whether these children may catch a standard development with rehabilitation methods.…”

Section: Gmfm T 0 (%) T 1 (%) T 2 (%)supporting

confidence: 88%

The effects of physiotherapy and rehabilitation on Pallister-Killian Syndrome: A case report

ZG¹

2018

J Sports Med Ther

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The aim of the paper is to determine the effects of physiotherapy and rehabilitation (PHTR) on a child with Pallister-Killian Syndrome (PKS). Gross Motor Function Measure (GMFM) and duration of grasping ping pong ball were the primary outcome measures which were conducted at the beginning, 12 th and 24 th month. Neurodevelopmental Therapy and Sensory Integration Therapy were used as intervention methods. The most increase with around 50% was acquired in Section A of the GMFM. Duration of holding a ping pong ball gradually increased. As a result, this is the fi rst paper presenting a PHTR shedule and its results in a child with PKS.

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“…Moreover, cerebral atrophy Fig. 1 The phenotype of a Pallister-Killian syndrome patient with a rare karyotype with ventricular dilatation has been often described in PKS individuals [8]. In our case, severe hypotonia, psychomotor and intellectual disability, no speech development, as well as an enlargement of the ventricles seen on MRI, were observed.…”

Section: Discussionmentioning

confidence: 68%

“…Neurological manifestation could be very severe in patients with PKS [7,8,10]. Moreover, cerebral atrophy Fig.…”

Section: Discussionmentioning

confidence: 98%

The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

et al. 2007

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The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes. Marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridisation (FISH). The karyotype was established as: mos47,XX,+12p/47,XX,+i(12p)/46,XX. The cytogenetic result of the extra mosaic 12p presented in lymphocytes suggested the diagnosis of trisomy 12p, although, in combination with clinical manifestations, the Pallister-Killian syndrome was considered and confirmed by the cytogenetic analysis of fibroblasts.

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Brain MRI findings of older patients with Pallister–Killian syndrome

Cited by 14 publications

References 15 publications

Pallister-Killian syndrome: a study of 22 British patients

Pallister-Killian syndrome: a study of 22 British patients

The effects of physiotherapy and rehabilitation on Pallister-Killian Syndrome: A case report

The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

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