Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult – Case report
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PROVIDER: PRJEB87498 | ENA |
REPOSITORIES: ENA
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Project description:Hypoglossia-hypodactylia syndrome is an extremely rare congenital anomaly characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs, with a risk of dysarthria and dysphagia. We report the articulation function and the swallowing function of a patient with hypoglossia-hypodactylia syndrome who was followed up to eight years old. Our patient did not have feeding and swallowing disturbances. She did not have articulatory disturbance, including /t/ and /r/, of the sound articulated using a proglossis. In the future, it is necessary to have a plastic operation for abnormal adhesion of the lower lip and mandibular gingiva and depression on the lower lip, and distraction osteogenesis for micrognathia. Also, it will be necessary to continuously monitor for an articulatory disturbance until the child uses more words. Therefore, a long-term intervention with a multidisciplinary approach is necessary.
| S-EPMC10393527 | biostudies-literature
Project description:BackgroundSengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease.Case presentationHere we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis.ConclusionTo our knowledge, this report provides the first longitudinal data of Sengers syndrome patients.
| S-EPMC9575244 | biostudies-literature
Project description:BackgroundMutations in the KMT2C gene can cause Kleefstra syndrome-2 (KLEFS2).CaseIn this study, we analyzed the clinical, genetic testing, and 10-year follow-up data of a child with KLEFS2 treated at the Child Healthcare Department, Children's Hospital of Nanjing Medical University, Nanjing. The case of KLEFS2 presented feeding difficulty and developmental delay, both intervened by nutritional support and family rehabilitation. Obvious attention deficit hyperactivity disorder (ADHD) occurred in preschool and school-age children and was managed by behavioral and pharmaceutical interventions.ConclusionFeatures of KLEFS2 include feeding difficulty and developmental delays in an early age, as well as ADHD in preschool and school age. Satisfactory outcomes are not achieved in early nutritional support for correcting malnutrition and pharmaceutical intervention for relieving ADHD, but both measures can counter developmental delay.
| S-EPMC9172761 | biostudies-literature
Project description: Not available
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Project description:Pleomorphic adenomas occur primarily in the salivary glands, while the primary of the trachea is relatively rare. Depending on their location and size, they may elicit symptoms reminiscent of asthma and asphyxia. We performed a rigid bronchoscopic resection with a radiofrequency snare of a primary pleomorphic adenoma of the trachea with severe airway narrowing. In this case, the positive resection margins raised concerns about malignant transformation and local recurrence, but no recurrence has been observed seven years postoperatively. The low expression of Ki-67 on immunohistological examination may be one of the reasons for the absence of recurrence.
| S-EPMC11255949 | biostudies-literature
Project description:Blue rubber bleb nevus syndrome (BRBNS) is a rare disease in which venous malformations (VMs) involve any body organ, most commonly the skin and the gastrointestinal (GI) tract. Treatment of BRBNS aims at preserving the GI tract as much as possible. Although there are several dozen case reports about BRBNS that describe short-term clinical courses, a few provide an account of long-term clinical course. Here, we report a case of BRBNS in a girl that required multiple abdominal surgeries due to the GI VMs and a recurrence at an interval of 14 years. The preferred approach for gastrointestinal VMs involves the complete resection of all lesions without residual VMs. It is important to bear in mind the possibility of delayed recurrence of GI VMs after surgical or endoscopic treatment.
| S-EPMC6286777 | biostudies-other
Project description:Objective To present a previously unreported patient with recurrent spinal metastasis from subcutaneous sacrococcygeal ependymoma who was followed for 16 years. Methods A 50-year-old man who had T9 metastasis from subcutaneous sacrococcygeal ependymoma underwent piecemeal total T9 excision at a local hospital. He was referred to our institute because of weakness in both legs and bowel-bladder dysfunction with the presence of recurrent spinal metastasis at levels T9-T11. Additional tumor excision was performed circumferentially around the dura, along with spinal reconstruction via a posterior-anterior-posterior approach. Subsequently, the patient could walk again. Thereafter, this patient was treated by repeated surgical resection, reinstrumentation, and bone grafting for thoracic spinal metastases, and an additional 14 thoracic nerve root transections (bilateral T6-T12) as a result of eight operations. Results These repeated operations have prevented paralysis and allowed the patient to maintain activities of daily living for 16 years. Conclusions We illustrated the feasibility of repeated surgical resection of thoracic spinal metastases, involving eight operations over 16 years. We believe that this case emphasizes the need to repeatedly resect this type of tumor before the onset of paralysis to maintain normal activity levels.
| S-EPMC5530622 | biostudies-other
Project description:BackgroundUnilateral absence of pulmonary artery is a rare congenital abnormality with varied clinical presentations. We present a unique case of congenital absence of right pulmonary artery (RPA) with left pulmonary artery (LPA) origin stenosis without any intracardiac or extracardiac lesion and its long-term follow-up.Case summaryA 68-year-old woman underwent successful LPA stenting 23 years back for absent RPA and LPA origin stenosis. She was recently evaluated for breathlessness, almost two decades after the procedure. On evaluation, she was found to have severe pulmonary hypertension (Group 5) without any distortion of the LPA and with normally functioning stent.DiscussionThis report discusses the long-term outcome of stenting in the setting of severe stenosis of a single pulmonary artery. Over the years, the patient went on to develop severe segmental pulmonary hypertension (Group 5).
| S-EPMC6439359 | biostudies-literature
Project description:BackgroundEales' disease is a difficult to treat idiopathic form of retinal vasculitis. We present such a case with peculiar epidemiology in which the only efficient therapeutic approach in order to maintain functional vision was repeated intravitreal dexamethasone implants (Ozurdex®). To the best of our knowledge this is the first report of this kind in the literature.Case presentationThis is the case of a 40-year-old white woman presenting in 2008 with recurrent floaters accompanied by blurring of vision in her right eye and severe visual loss in her left eye caused by retinal detachment; her age at presentation was 30 years. A diagnosis of Eales' disease was made by exclusion. She was stable until 2011 after childbirth (cesarean section). Despite aggressive systemic treatment with steroids, azathioprine, and mycophenolate mofetil, progression of the disease was noted that could only be controlled with repeated intravitreal dexamethasone implants (Ozurdex®) injected in her right eye. Her left eye underwent vitrectomy with silicone oil tamponade for tractional retinal detachment with satisfactory anatomical result but vision was limited to light perception.ConclusionsIn our case the systemic therapy was much less effective than the intravitreal sustained-release dexamethasone implant (Ozurdex®) for reducing recurrences and halting disease progression. We believe that recurrent and severe cases could benefit from this addition to the classic treatment armamentarium.
| S-EPMC6192282 | biostudies-literature
Project description:BackgroundTourette's Syndrome (TS) is a childhood-onset movement disorder marked by the chronic presence of motor and vocal tics. Research shows that tics associated with TS tend to fade in severity for some (but not all) affected youth, though psychiatric comorbidities that commonly accompany TS may be more persistent. The long-term outcomes of individuals with TS have not been well characterized.ObjectiveTo characterize long-term clinical outcomes of individuals with TS.MethodWe conducted a long-term (25-32 years) follow-up study of 45 patients with TS who presented to the Tourette's and Tic Disorders Clinic within the Department of Psychiatry at the University of California San Francisco Medical Center, which was staffed by the first author (Thomas L. Lowe, MD [T.L.L.]), between 1983 and 1990. Baseline data were obtained via chart review, and follow-up data were obtained by self-report surveys.ResultsParticipants generally reported good psychosocial functioning, attainment of significant social milestones (academic attainment, gainful employment, marriage), and high subjective quality of life. The vast majority of participants (82%) reported improvement in their tics over time, though a significant minority continued to experience at least mild tic-related impairment (26%-40%, depending on metric). Lifetime rates of attention deficit hyperactivity disorder (ADHD) and anxiety disorders, including obsessive-compulsive disorder, were greater than in the general US population. Robust predictors of follow-up outcomes were not found.ConclusionsThese findings reflect a positive overall long-term prognosis for individuals with TS. Providing information about this prognosis at the time of diagnosis may decrease distress in affected individuals and their families. Future studies using planned longitudinal designs that address potential confounds of survey nonresponse are needed to detail long-term outcomes of individuals with TS more precisely.
| S-EPMC6335508 | biostudies-literature