A case of Luscan-Lumish syndrome: Possible involvement of enhanced GH signaling

2020 ◽  
Author(s):  
Kentaro Suda ◽  
Hidenori Fukuoka ◽  
Genzo Iguchi ◽  
Keitaro Kanie ◽  
Yasunori Fujita ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Novel Mutation ◽  
Body Height ◽  
Chiari I Malformation ◽  
Oral Glucose ◽  
Tall Stature ◽  
Sequencing Analysis ◽  
Serum Growth Hormone ◽  
Chiari I

Abstract Context Luscan-Lumish syndrome (LLS) is characterized by postnatal overgrowth, obesity, Chiari I malformation, seizures, and intellectual disability. SET domain-containing protein 2 (SETD2) is a histone methyltransferase, where mutations in the gene are associated with the development of LLS. However, mechanisms underlying LLS remain unclear. Case description A 20-year-old man was referred to our hospital because of tall stature. His body height was 188.2 cm (+3.18 SD) and he showed obesity with a body mass index of 28.4 kg/m 2. He exhibited acral overgrowth, jaw malocclusion, and prognathism, but no history of seizures, intellectual disability, or speech delay. Serum growth hormone (GH), insulin-like growth factor 1 (IGF-1), and nadir GH levels after administration of 75 g oral glucose were within normal range. Pituitary magnetic resonance imaging showed no pituitary adenoma, but Chiari I malformation. Whole exome sequencing analysis of the proband revealed a de novo heterozygous germline mutation in SETD2 (c.236T>A, p.L79H). Skin fibroblasts derived from the patient grew faster than those from his father and the control subject. In addition, these cells showed enhanced tyrosine phosphorylation and transcriptional activity of signal transducer and activator of transcription 5b (STAT5b) and increased IGF-1 expression induced by GH. Conclusion This is a mild case of LLS with a novel mutation in SETD2 without neurological symptoms. LLS should be differentiated in a patient with gigantism without pituitary tumors. Although further investigation is necessary, this is the first study to suggest the involvement of aberrant GH signaling in the development of LLS.

scholarly journals De Novo Chiari I Malformation and Syringomyelia Arising from Enlarging Posterior Fossae Meningioma: Case Report and Discussion

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Shiau JS ◽  
◽  
Collado JA ◽  
Danielle Ruggiero D ◽  
Skrypek AR ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Chiari I Malformation ◽  
Chiari I

The authors believe this is the first described case completely illustrating the de novo development of Chiari I Malformation and associated syringomyelia in a patient with posterior fossae meningioma. The case demonstrates and supports current theories regarding Chiari I malformations and the pathophysiology of syringomyelia.

scholarly journals CSF goes astray no matter what is in the way: occipital intradiploic pseudomeningocele and de novo syringomyelia following foramen magnum decompression for Chiari I malformation in a pediatric patient

2020 ◽  
Vol 25 (5) ◽  
pp. 529-534
Author(s):  
Arthur R. Kurzbuch ◽  
Shailendra Magdum
Keyword(s):  
Revision Surgery ◽  
De Novo ◽  
Foramen Magnum ◽  
Chiari I Malformation ◽  
Foramen Magnum Decompression ◽  
Dural Closure ◽  
First Case ◽  
Chiari I ◽  
Lost To Follow Up

Nontraumatic intradiploic pseudomeningoceles and de novo syringomyelia formation are very rare entities. The authors have previously reported the case of a 4-year-old girl who underwent foramen magnum decompression without dural closure for Chiari I malformation. Three years after the operation an intradiploic pseudomeningocele was documented, but the patient was lost to follow-up without undergoing revision surgery. Four years later, at the age of 11 years, the patient returned for treatment of intensifying symptoms. Radiological imaging then showed an increase in the size of the intradiploic pseudomeningocele and a new cervical syrinx. The patient underwent a first revision surgery in which a part of the internal layer of the occipital bone was removed and arachnoid scar lysis was performed. Two months later the syrinx had worsened, and in a second revision surgery a pseudomeningocele-peritoneal shunt was placed. Here, the authors describe what is to their knowledge the first case of an intradiploic pseudomeningocele and de novo syringomyelia formation following Chiari I decompressive surgery.

scholarly journals Rare and de novo coding variants in chromodomain genes in Chiari I malformation

2021 ◽  
Vol 108 (1) ◽  
pp. 100-114
Author(s):  
Brooke Sadler ◽  
Jackson Wilborn ◽  
Lilian Antunes ◽  
Timothy Kuensting ◽  
Andrew T. Hale ◽  
...  
Keyword(s):  
De Novo ◽  
Chiari I Malformation ◽  
Chiari I ◽  
Coding Variants

scholarly journals Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Otto Lennartsson ◽  
Maria Lodefalk ◽  
Henrik Wehtje ◽  
Eva-Lena Stattin ◽  
Lars Sävendahl ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Clinical Case ◽  
Distal Femur ◽  
De Novo ◽  
Bone Age ◽  
Autism Spectrum ◽  
Tall Stature ◽  
Leg Length ◽  
Early Puberty

ObjectiveTo present a rare clinical case of a patient with Tatton-Brown-Rahman syndrome and the outcome of tall stature management with bilateral epiphysiodesis surgery at the distal femur and proximal ends of tibia and fibula.Study DesignClinical case report.ResultsThis is a 20-year-old female with a history of proportional tall stature, developmental psychomotor and language delay with autism spectrum behavior and distinctive facial features. At 12 years and 2 months of age she was in early puberty and 172.5 cm tall (+ 2.8 SDS) and growing approximately 2 SDS above midparental target height of 173 cm (+ 0.9 SDS). A bone age assessment predicted an adult height of 187.1 cm (+3.4 SDS). To prevent extreme tall stature, bilateral epiphysiodesis surgery was performed at the distal femur and proximal ends of tibia and fibula at the age of 12 years and 9 months. After the surgery her height increased by 12.6 cm to 187.4 cm of which approximately 10.9 cm occurred in the spine whereas leg length increased by only 1.7 cm resulting in a modest increase of sitting height index from 50% (-1 SDS) to 53% (+ 0.5 SDS). Genetic evaluation for tall stature and intellectual disability identified a de novo nonsense variant in the DNMT3A gene previously associated with Tatton-Brown-Rahman syndrome.ConclusionTatton-Brown-Rahman syndrome should be considered in children with extreme tall stature and intellectual disability. Percutaneous epiphysiodesis surgery to mitigate extreme tall stature may be considered.

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

2016 ◽  
Vol 36 (6) ◽  
pp. 561-565 ◽  
Author(s):  
Kazuma Sugie ◽  
Hiroyuki Yoshizawa ◽  
Kenji Onoue ◽  
Yoko Nakanishi ◽  
Nobuyuki Eura ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Early Onset ◽  
De Novo ◽  
Novel Mutation ◽  
Danon Disease ◽  
Lamp2 Gene

scholarly journals Rare and de novo coding variants in chromodomain genes in Chiari I malformation

2021 ◽  
Vol 108 (3) ◽  
pp. 530-531
Author(s):  
Brooke Sadler ◽  
Jackson Wilborn ◽  
Lilian Antunes ◽  
Timothy Kuensting ◽  
Andrew T. Hale ◽  
...  
Keyword(s):  
De Novo ◽  
Chiari I Malformation ◽  
Chiari I ◽  
Coding Variants

scholarly journals Rare and de novo coding variants in chromodomain genes in Chiari I malformation

2021 ◽  
Vol 108 (2) ◽  
pp. 368
Author(s):  
Brooke Sadler ◽  
Jackson Wilborn ◽  
Lilian Antunes ◽  
Timothy Kuensting ◽  
Andrew T. Hale ◽  
...  
Keyword(s):  
De Novo ◽  
Chiari I Malformation ◽  
Chiari I ◽  
Coding Variants

Physical fitness of people with moderate and considerable intellectual disabilities

Physiotherapy ◽  
2013 ◽  
Vol 21 (3) ◽  
Author(s):  
Marzena Ślężyńska ◽  
Grzegorz Mięsok ◽  
Kamila Mięsok
Keyword(s):  
Physical Activity ◽  
Intellectual Disability ◽  
Physical Fitness ◽  
Body Mass ◽  
Body Height ◽  
Abdominal Muscle ◽  
The Body ◽  
Intellectually Disabled ◽  
Fitness Tests ◽  
Abdominal Muscle Strength

AbstractIntroduction: The aim of the physical activity of the intellectually disabled is the strengthening of health, creating movement habits, promoting active recreation, and maintaining exercise capacity. Skillfully applied physical activity allows to mitigate the effects of pathology and create the compensations to enable the intellectually disabled people to live relatively independently. Physical activity and sport also increase their chances to integrate with their families, peers, and social environment.Materials and methods: The research targeted a group of 134 people with moderate or considerable intellectual disability (65 women and 69 men), aged 20-53 years, who participated in occupational therapy workshops in Jastrzębie Zdrój, Rybnik, and Żory. Physical fitness was assessed using the “Eurofit Special” test and balance tests. Measurements of body height and mass were also taken and then used to calculate the body mass index (BMI).Results: A salient somatic trait was the greater body mass relative to height among the persons with considerable disability, clearly illustrated by the BMI. This explained their greater heaviness in performing physical exercises. An even greater difference between participants with moderate and considerable intellectual disability was visible in physical fitness. Obviously, older persons did not achieve as good results in fitness tests as the younger ones, yet the participants were more differentiated by the level of disability than age. Most symptomatic differences to the disadvantage of the considerably disabled were observed in explosive strength, speed, abdominal muscle strength, and flexibility.Conclusions: Significant differences in fitness between the compared groups make it necessary to take into account the level of intellectual disability in the course of physical education and sport, at work, and in household duties.

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