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Coffin-Lowry Syndrome (CLS) is a rare X-linked genetic disorder characterized by growth delays, facial dysmorphisms, and intellectual disabilities. Currently, there are limited published case reports regarding the anesthetic management of patients with CLS. Managing anesthesia for CLS patients can be complex due to difficult airway management. In this case report, we present a patient with CLS who underwent surgical intervention, highlighting the anesthetic considerations encountered throughout the perioperative period. We aim to summarize the difficulties involved in anesthetic management of rare conditions like CLS to improve clinical outcomes for affected individuals., (© 2024. The Author(s).)

Background: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS., Case Presentation: Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia., Conclusions: The very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype., (© 2023. The Author(s).)

Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our patient, causing paraplegia and restrictive lung disease. In this article, we present the third oldest documented male case of Coffin-Lowry syndrome with severe kyphoscoliosis, paraplegia, and restrictive lung disease.

Rationale: 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., Patient Concerns: 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., Diagnoses: Difficult airway was suspected. However, because of mental retardation, awake intubation was considered difficult., Interventions: We selected bronchofiberscope-guided nasotracheal intubation, maintaining spontaneous breathing under moderate sedation with a propofol target-controlled infusion., Outcomes: Airway management was safely performed during anesthesia induction., Lessons: 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.

Background: We report 8 years of follow-up after decompression to treat cervical myelopathy in a patient with Coffin-Lowry syndrome (CLS). CLS is a rare X-linked semidominant syndrome associated with growth and psychomotor retardation, general hypotonia, and skeletal abnormalities. In this patient, the spinal cord was compressed by calcium pyrophosphate crystal deposition in the cervical yellow ligament (YL). To date, only 1 report has described clinical features after surgery for calcified cervical YL in CLS., Methods: A 15-year-old male with tetraplegia secondary to compression of the cervical spinal cord induced by a hypoplastic posterior arch of C1 and calcification of the YL from C2 to C7 was treated surgically with laminectomy from C1 to C7. The patient's history, clinical examination, imaging findings, and treatment are reported. The patient was incapable of speech because of mental retardation, so he could not describe his symptoms. Gait disturbance worsened over the 2 months before admission to our hospital. At admission, the patient could not move his extremities, and tendon reflexes of the upper and lower extremities were significantly increased. Computed tomography of the cervical spine showed YL calcification from C2 to C7. Magnetic resonance imaging showed consecutive compression of the cervical spinal cord. We diagnosed quadriplegia secondary to cervical cord damage and performed emergency surgery., Results: During C1-C7 laminectomy, YL calcification in C2-C7 was observed. The calcification was confirmed as calcium pyrophosphate by crystal analysis. Quadriplegia gradually resolved, and almost disappeared by 2 weeks after the operation. Cervical hyperlordosis was observed in radiographs starting from 1 month after the operation, but it has not progressed and is not associated with any symptoms., Conclusions: The efficacy of decompression continued, and no postoperative complications have occurred during at least 8 years of follow-up.

Some cases of Coffin-Lowry syndrome recognized episodic drops and it tended to be intractable for medical treatment. We reported here a patient with the Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome (OSAS). The patient had epileptic seizures and drop attacks only during night-time and it was not recognized during the daytime. His sleep-induced electroencephalogram was normal. At 12-years old of his age, his OSAS was worse, so we performed a tracheotomy. Notably after the operation, his epileptic episodes were disappeared.

Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia. An 18-year-old man with morphologic features characteristic of Coffin-Lowry syndrome was referred to our institution for valve disease surgery for worsening cardiac failure. Echocardiography showed severe mitral valve regurgitation associated with tricuspid valve regurgitation. Mitral valve implantation with a biological valve and tricuspid annular plication with a ring was performed. The ascending aorta was hypoplastic. Both the mitral papillary muscle originating near the mitral annulus and the chordae were shortened. The patient's postoperative course was uneventful and his cardiac failure improved.

A 12-year-old male patient with Coffin-Lowry syndrome was scheduled for posterior cervical decompression and fusion for cervical spinal injuries. The patient had features of Coffin-Lowry syndrome including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, short stature, microcephaly, and kyphoscoliosis. We anticipated major troubles related to anesthesia such as difficult ventilation and intubation, communication difficulty during induction and extubation, and difficulty in using a naso-pharyngeal airway. In addition, we had to stabilize neck alignments during intubation because cervical vertebrae were unstable and spinal cord has already been injured. Therefore, we scheduled slow induction with sevoflurane maintaining spontaneous respiration. As we found the full mouth opening of the patient after the induction, we inserted an intubating laryngeal mask, through which ventilation was successfully maintained. A tracheal tube was inserted through the intubating laryngeal mask. When the surgery was completed, we extubated using a tube introducer in the trachea. As we found that the patient's airway was open, we removed the introducer. In conclusion, with a thorough planning of the anesthetic management, we successfully managed anesthesia for cervical spinal surgery in a patient with Coffin-Lowry syndrome.

The Coffin-Lowry syndrome (CLS) is a syndromic form of intellectual disability caused by loss-of-function of the RSK2 serine/threonine kinase encoded by the rsk2 gene. Rsk2 knockout mice, a murine model of CLS, exhibit spatial learning and memory impairments, yet the underlying neural mechanisms are unknown. In the current study, we examined the performance of Rsk2 knockout mice in cued, trace and contextual fear memory paradigms and identified selective deficits in the consolidation and reconsolidation of hippocampal-dependent fear memories as task difficulty and hippocampal demand increase. Electrophysiological, biochemical and electron microscopy analyses were carried out in the dentate gyrus of the hippocampus to explore potential alterations in neuronal functions and structure. In vivo and in vitro electrophysiology revealed impaired synaptic transmission, decreased network excitability and reduced AMPA and NMDA conductance in Rsk2 knockout mice. In the absence of RSK2, standard measures of short-term and long-term potentiation (LTP) were normal, however LTP-induced CREB phosphorylation and expression of the transcription factors EGR1/ZIF268 were reduced and that of the scaffolding protein SHANK3 was blocked, indicating impaired activity-dependent gene regulation. At the structural level, the density of perforated and non-perforated synapses and of multiple spine boutons was not altered, however, a clear enlargement of spine neck width and post-synaptic densities indicates altered synapse ultrastructure. These findings show that RSK2 loss-of-function is associated in the dentate gyrus with multi-level alterations that encompass modifications of glutamate receptor channel properties, synaptic transmission, plasticity-associated gene expression and spine morphology, providing novel insights into the mechanisms contributing to cognitive impairments in CLS., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Background: Coffin-Lowry syndrome (CLS) is a rare genetic disorder. The syndrome presents with psychomotor retardation, short stature, skeletal deformations, digit abnormalities, and distinctive facial features. Oral and dental findings in CLS are common and they include thick prominent lips, high palate, midline lingual furrow, hypodontia, microdontia, delayed eruption, and early tooth loss. Only one earlier case suggesting hypoplastic root cementum as cause for primary loss of teeth in CLS has been published., Case Report: This case describes a 3-year-old boy with premature loss of primary incisors without preceding root resorption. In addition to the dental findings, the boy had several general signs and symptoms and the dental findings together with the other characteristics led to the clinical diagnosis of CLS, which later was genetically verified. Histological analysis of an extracted primary incisor showed hypoplastic root cementum., Conclusion: Hypoplastic root cementum may explain early tooth loss in CLS. As early loss of primary teeth is rare, especially when there is no previous root resorption, the individual is likely to seek dental care. Thus, the dentist may play an important role in assisting in the diagnosing of CLS., (© 2011 The Authors. International Journal of Paediatric Dentistry © 2011 BSPD, IAPD and Blackwell Publishing Ltd.)

Coffin-Lowry syndrome (CLS) is an X-linked dominant condition characterized by moderate to severe mental retardation, characteristic facies, and hand and skeletal malformations. The syndrome is due to mutations in the gene that encodes the ribosomal protein S6 kinase-2, a growth factor-regulating protein kinase located on Xp22.2. Cardiac anomalies are known to be associated with CLS. Left ventricular noncompaction (LVNC) is a clinically heterogeneous disorder characterized by left ventricular (LV) myocardial trabeculations and intertrabecular recesses that communicate with the LV cavity. Patients may present with a variety of clinical phenotypes, ranging from a complete absence of symptoms to a rapid, progressive decline in LV systolic and diastolic function, resulting in congestive heart failure, malignant ventricular tachyarrhythmias, and systemic thromboembolic events. Restrictive cardiomyopathy is an uncommon primary cardiomyopathy characterized by biatrial enlargement, normal or decreased biventricular volume, impaired ventricular filling, and normal or near-normal systolic function. We describe a patient with CLS and LVNC with a restrictive pattern, as documented by echocardiography and cardiac catheterization. To our knowledge, there have been no previous reports of concomitant CLS and LVNC. On the basis of our case, we suggest that patients with CLS be screened not only for congenital structural heart defects but also for LVNC cardiomyopathy., (Copyright © 2011 Wiley Periodicals, Inc.)

Coffin-Lowry syndrome is a well-defined clinical entity classically associated with moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers. A characteristic paroxysmal disorder was described in up to 10% patients with Coffin-Lowry syndrome, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. These events were given several names, including cataplexy, nonepileptic collapses with atonia, exaggerated startle responses, hyperekplexia, and stimulus-induced drop episodes. Various therapies were undertaken for these drop attacks, including clonazepam, tiagabine, felbamate, selective serotonin reuptake inhibitors, and tricyclics, with variable improvement. We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks.

Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by craniofacial abnormalities, mental retardation, short stature, and hypotonia. Patients with CLS may present with multiple musculoskeletal abnormalities. The purpose of this study was to identify and characterize the musculoskeletal findings in 10 patients with CLS. Eight patients presented with thoracolumbar kyphosis or kyphoscoliosis, with a mean Cobb angle of 45 degrees in the coronal plane and 31 degrees of thoracolumbar kyphosis. These may be progressive and difficult to treat, needing early surgical treatment. Close follow-up of the spinal deformities is strongly recommended to document progression. Sixty percent of the patients presented with bilateral flexible and painless planovalgus deformities. Hypoplasia of the ilium and hand deformities are common but do not seem to cause any functional problems. Observation is recommended for these asymptomatic hand, foot, and pelvic findings.

Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region. This inherited disorder is x-linked and is genetically mapped to the Xp22.2 chromosomal region. This report presents the dental findings of three male members of the same family: an older brother and younger identical twins; all three were first examined at age 10. The father's family came from North Africa and the mother's from Eastern Europe. In addition to the reported typical characteristics of Coffin-Lowry Syndrome, a number of specific dental findings were found in all of the brothers, namely, maxillary protrusion, open bite, two-year retardation in age of eruption, agenesis of the permanent mandibular central incisors in all of the brothers, and a marked oligodontia in the oldest. Despite difficulties in management, the dental treatment for caries and gingivitis could be completed on the brothers without sedation.

We present a case of a 5-year-old boy with premature exfoliation of primary teeth. All eight primary incisors had exfoliated by the age of 3 years, and three canines and one primary first molar were subsequently lost when he was 4 years old. None of the exfoliated teeth exhibited caries. The boy also showed characteristic facial changes, tapering of the fingers, and mental and motor retardation. Based on these findings, he was diagnosed as having Coffin-Lowry syndrome. Premature exfoliation of primary teeth in Coffin-Lowry syndrome has been described in a few reports. This manifestation of the disease would be helpful for diagnosis at an early stage as those previous reports suggested.

Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditory stimuli. We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes. All mutations in our patient and those previously reported in patients with drop episodes result in premature truncation of the RSK2 protein in the N-terminal kinase domain or upstream of this domain.

Coffin-Lowry syndrome (CLS) is a rare but well-documented X-linked disorder characterized by small size, developmental delay/mental retardation, and characteristic facial and skeletal findings in affected males. The phenotype in affected females is far more variable and can include developmental differences, obesity, and characteristic facial and skeletal differences. Cardiac anomalies are reported in less than 20% of affected males, with cardiomyopathy being one of the rare but reported complications of this disorder. However, cardiomyopathy is not well characterized in CLS. Here, we report on a 14-year-old boy with physical and developmental findings consistent with CLS who presented with a relatively sudden onset of signs of congestive heart failure due to a restrictive cardiomyopathy; an endomyocardial biopsy demonstrated non-specific hypertrophic myocyte alterations consistent with cardiomyopathy. This is the first description of the histology and electron microscopy of cardiomyopathy in CLS., (Copyright 2004 Wiley-Liss, Inc.)

Syndromes of disordered 'chromatin remodeling' are unique in medicine because they arise from a general deregulation of DNA transcription caused by mutations in genes encoding enzymes which mediate changes in chromatin structure. Chromatin is the packaged form of DNA in the eukaryotic cell. It consists almost entirely of repeating units, called nucleosomes, in which short segments of DNA are wrapped tightly around a disk-like structure comprising two subunits of each of the histone proteins H2A, H2B, H3 and H4. Histone proteins are covalently modified by a number of different adducts (i.e. acetylation and phosphorylation) that regulate the tightness of the DNA-histone interactions. Mutations in genes encoding enzymes that mediate chromatin structure can result in a loss of proper regulation of chromatin structure, which in turn can result in deregulation of gene transcription and inappropriate protein expression. In this review we present examples of representative genetic diseases that arise as a consequence of disordered chromatin remodeling. These include: alpha-thalassemia/mental retardation syndrome, X-linked (ATR-X); Rett syndrome (RS); immunodeficiency-centromeric instability-facial anomalies syndrome (ICF); Rubinstein-Taybi syndrome (RSTS); and Coffin-Lowry syndrome (CLS).

A description is made of the general and odontologic characteristics of Coffin-Lowry syndrome, with a review of the literature and the report of a clinical case.