Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy

A 44-year-old woman with known trichorhinophalangeal syndrome presented with an unheralded out of hospital cardiac arrest. Transthoracic echocardiography showed severe left ventricular systolic dysfunction with an ejection fraction <25% and cardiac MRI confirmed a diagnosis of congenital non-ischaemic dilated cardiomyopathy. The case highlights a very rare syndrome, it is previously unknown association with dilated cardiomyopathy and the possible benefit of cardiac screening for patients with known trichorhinophalangeal syndrome.

Trichorhinopharyngeal Syndrome Type 1 and Trisomy 21: A Patient with 2 Genetic Mutations

Trichorhinophalangeal syndrome (TRPS) Type I is a rare, autosomal dominant genetic syndrome with a spectrum of characteristics affecting hair, craniofacial, and skeletal development. It was first described in 1966 by Giedion based on three main features of sparse hair, bulbous nasal tip, and short deformed fingers. TRPS Type I is generally associated with mutations or microdeletions in the TRPS1 gene on chromosome 8q23.3, with translocations on this chromosomal arm also reported. The prevalence of TRPS Type I is unknown due to varying and subtle presenting features. Approximately 100 cases of TRPS Type I and III and 100 cases of TRPS Type II have been described and published up until 2017. We describe the neonatal course of an infant with TRPS Type I and Trisomy 21, two chromosomal anomalies prenatally diagnosed. To our knowledge, this is the first report of TRPS with Trisomy 21.

Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective Study

BackgroundMusculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed to examine the final genetic diagnosis in patients who presented with musculoskeletal complaints to the rheumatology department.MethodsPatients who presented to the Department of Pediatric Rheumatology and were referred to the pediatric genetic department between January 2015 and May 2019 were evaluated retrospectively. ResultsA total of 60 patients, 19 boys (31.66%), with a mean age of 12.46 ± 1.41 years were included in the study. The total consanguinity rate was 25%. The most common (29.5%) cause of referral to the pediatric genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one-third of the patients (n: 19) were diagnosed and followed up by the pediatric genetics department. The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondrodysplasia (SPENCD) (n: 3); and nonspecific connective tissue disorders (n: 8).ConclusionsIn the differential diagnosis of patients who are referred to the Department of Pediatric Rheumatology with complaints of the musculoskeletal system, genetic disorders should also be considered.

Urgent Airway Management and Postoperative Complications in a Patient with Trichorhinophalangeal Syndrome

Trichorhinophalangeal syndrome (TRPS) is a genetic disorder that may pose anesthetic challenges. We present a case of airway management for urgent surgery in a 56-year-old female with TRPS and difficult airway (macroglossia, narrow glottic opening, and hypoplastic epiglottis). Intubation was successful with video laryngoscopy using a size 2.5 pediatric blade and size 5.0 endotracheal tube. During emergence, she experienced bronchospasm and persistent urosepsis, necessitating intensive care unit (ICU) admission. Her pulmonary reserve was hindered by a Morgagni hernia causing lung compression. Our case demonstrates challenges in TRPS including challenging airway, decreased pulmonary reserve, and joint laxity introducing potential for spinal cord injury.

Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases

BackgroundMusculoskeletal symptoms may be due to non-inflammatory causes including genetic disorders. We aimed to examine the final genetic diagnosis in patients who had presented with musculoskeletal complaints to rheumatology department.MethodsPatients presenting to the department of pediatric rheumatology and consulted to the genetic department between January 2015 and May 2019 were evaluated retrospectively. ResultsA total of 60 patients, 19 boys (31.66%), with a mean age 12.46 ± 1.41 years were included in the study. Total consanguinity rate was 25%. The most common (29.5%) cause of referral to the genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one third of the patients (n: 19) were diagnosed and followed up by the genetic department. The diagnoses of patients were as follows; CACP syndrome (n:3), trichorhinophalangeal syndrome (n:1), progressive pseudoromatoid dysplasia (n:2), LIG4 syndrome (n:1), H syndrome (n:1), SPENCD syndrome (n:3), and nonspecific connective tissue disease (n:8).ConclusionsIn the differential diagnosis of patients who are referred to the department of pediatric rheumatology with complaints of the musculoskeletal system, genetic disorders should also be taken into consideration.Clinical Trial Registration: Hacettepe University Ethics Commission (Approval number: GO 19/781)