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Mechanical ventilation in Coffin-Lowry syndrome: a case report.

ABSTRACT: We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit.

SUBMITTER: Moura EB

PROVIDER: S-EPMC5225924 | biostudies-literature | 2016 Oct-Dec

REPOSITORIES: biostudies-literature

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Mechanical ventilation in Coffin-Lowry syndrome: a case report.

Moura Edmilson Bastos de EB Moura Érica Leal Teixeira de ÉL Amorim Fábio Ferreira FF Oliveira Vânia Maria VM

Revista Brasileira de terapia intensiva 20161001 4

We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit. ...[more]

PMID: 28099645

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Coffin-Lowry syndrome.

Project description:Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation.

| S-EPMC2987346 | biostudies-literature

Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review.

Project description:Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. The mutation of RPS6KA3 we detected by NGS analysis is c.2185 C > T. The short stature is a noteworthy problem we discuss here to improve the patient's growth and development. The efficacy and safety of application of growth hormone analogs on patients with CLS are not confirmed and need to be carefully considered.

| S-EPMC6357678 | biostudies-literature

Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review.

Project description:Coffin-Lowry syndrome (CLS) is a rare inherited disease with specific clinical features, such as mental retardation, facial dysmorphism, and cardiac abnormality. In particular, the characteristic facial features of CLS, including retrognathia and large tongue, are associated with difficult ventilation and/or intubation, which is a serious problem of anesthesia management. However, case reports on anesthesia management of CLS are very limited as there are only two published English reports till date. In this case report, we discuss anesthetic and postoperative considerations in patients with CLS, focusing on difficult airway management, and summarize past reports including some Japanese articles.A 25-year-old man with CLS was planning to undergo laminectomy because of progressive quadriplegia caused by calcification of the yellow ligament. We suspected difficulty in airway management because of several factors in his facial features, short thyromental and sternomental distances in computed tomography, severe obesity, and sleep apnea syndrome.Difficult airway was suspected. However, because of mental retardation, awake intubation was considered difficult.We selected bronchofiberscope-guided nasotracheal intubation, maintaining spontaneous breathing under moderate sedation with a propofol target-controlled infusion.Airway management was safely performed during anesthesia induction.In many patients with CLS, difficult intubation was reported, and sedation or slow induction maintaining spontaneous breathing was mainly selected for anesthesia induction. Spontaneous breathing should be maintained during anesthesia induction in case of CLS patients.

| S-EPMC5728904 | biostudies-literature

Coffin-Lowry syndrome: clinical and molecular features.

Project description:The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening occurs during childhood and adult life. The hands are broad with soft, stubby, tapering fingers. Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss. The causal gene, RSK2, was identified in 1996 and contains 22 exons which encode a protein of 740 amino acids. Over 75 distinct pathogenic mutations have been identified in 250 unrelated CLS patients.

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Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.

Project description:Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to severe intellectual disability and dysmorphism in men, while women are carriers and only weakly affected. CLS is well known for stimulus-induced drop episodes; however, epilepsy is not commonly reported in this condition. We report on a CLS patient presenting with recurrent episodes of nonconvulsive status epilepticus (NCSE) with generalized epileptic activity, for which investigations did not find any other cause than the patient's genetic condition. This case underlines that the possibility of nonconvulsive epileptic seizures and status epilepticus should, therefore, be considered in those patients. The treatable diagnosis of NCSE may easily be overlooked, as symptoms can be unspecific.

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Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction.

Project description:Loss of function mutations in the rsk2 gene cause Coffin-Lowry syndrome (CLS), which is associated with multiple symptoms including severe mental disabilities. Despite the characterization of ribosomal S6 kinase 2 (RSK2) as a protein kinase acting as a downstream effector of the well characterized ERK MAP-kinase signaling pathway, it turns out to be a challenging task to link RSK2 to specific neuronal processes dysregulated in case of mutation. Animal models such as mouse and Drosophila combine advanced genetic manipulation tools with in vivo imaging techniques, high-resolution connectome analysis and a variety of behavioral assays, thereby allowing for an in-depth analysis for gene functions in the nervous system. Although modeling mental disability in animal systems has limitations because of the complexity of phenotypes, the influence of genetic variation and species-specific characteristics at the neural circuit and behavioral level, some common aspects of RSK2 function in the nervous system have emerged, which will be presented. Only with this knowledge our understanding of the pathophysiology of CLS can be improved, which might open the door for development of potential intervention strategies.

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Autism spectrum disorder and Coffin-Siris syndrome-Case report.

Project description:IntroductionAutism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and/or stereotyped behaviors. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. In this study, we present a detailed description of autistic traits in a boy diagnosed with CSS and further discuss their genetic backgrounds.Case descriptionAn 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin-Siris syndrome after genetic testing. Genetic testing revealed a heterozygous de novo pathogenic variant (class 5) c.1638_1647del in the ARID1B gene that is causative of Coffin-Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype.ConclusionBoth autism and ARID1B-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.

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A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin-Lowry Syndrome.

Project description: Not available

| S-EPMC6660236 | biostudies-literature

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

Project description:Coffin-Lowry syndrome (CLS) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with cognitive impairment and skeletal malformations. We conducted the first morphometric study of CLS brain morphology by comparing brain volumes from two CLS families with healthy controls. Individuals with CLS consistently showed markedly reduced total brain volume. Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations. We provide preliminary evidence that the magnitude of hippocampus volume deviation from that of controls may predict general cognitive outcome in CLS.

| S-EPMC3055244 | biostudies-literature

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

Project description:We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation. In the third family, although CLS had been suspected, the clinical features were atypical and the degree of intellectual disability much less than expected. These families show that strict reliance on classical clinical criteria for mutation testing may result in a missed diagnosis. A less targeted screening approach to mutation testing is advocated.

| S-EPMC2714973 | biostudies-literature

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