16-year-old Girl with Diplopia and Unilateral Upper Lid Ptosis.
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PROVIDER: S-EPMC4926576 | biostudies-literature | 2016 Apr-Jun
REPOSITORIES: biostudies-literature
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16-year-old Girl with Diplopia and Unilateral Upper Lid Ptosis.
Journal of ophthalmic & vision research 20160401 2
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Project description:BackgroundUnilateral pulmonary artery agenesis (UPAA) and Kommerell's diverticulum (KD) are two rare embryologically unrelated congenital vascular malformations rarely diagnosed in children. This is the first report of our knowledge of the unique combination for a child as patients are at a high risk of pulmonary hypertension and rupture of the diverticulum. Our aim is to present the case of a pediatric patient with UPAA and KD with the short literature review and to highlight the importance of early diagnostics of rare congenital vascular malformations.Case reportA 1-year-old girl presented to the emergency department with prolonged cough and variable wheezing. A hypoplastic left lung was suspected in the radiographic image of the chest. A transthoracic echocardiogram revealed absence of the left pulmonary artery and right arch of aorta and anomaly of subclavian arteries was suspected. The diagnosis was confirmed by computed tomography scans of the chest that demonstrated elongation of the aorta and an aberrant right subclavian artery with KD, as well as absence of the left pulmonary artery. The patient is being followed up for the development of pulmonary hypertension and compression of vascular structures to the airways as well as any indications for surgical intervention because of the KD.ConclusionsUPAA and KD are two very rare congenital vascular anomalies usually diagnosed in adults. A high risk of pulmonary hypertension and rupture of diverticulum is noted for adult patients. This case provides us with an exclusive possibility to follow up a patient with an extremely rare combination of the two vascular anomalies with insufficiently known future complications and outcomes.
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Project description:BackgroundMargin Reflex Distance 1(MRD 1) only describes the central height of upper eyelid and relies on the examiner's experience and disregards eyelid contour abnormalities. Therefore MRD 1 may not be sufficient for an acceptable result to evaluate the outcomes of ptosis surgery. The primary purpose of this study was to assess outcomes of unilateral ptosis correction based on parameters including degree of symmetry, MRD 1, peak height of the upper lid, temporal and nasal ocular surface area, and temporal/nasal area ratio with an objective, quantitative, and repeatable method.MethodsThis study was designed as a retrospective non-randomized case-control study. Medical records of the patients with unilateral ptosis between October 2015 and December 2020 were reviewed. Patients with unilateral ptosis who underwent surgical correction and levator function of 5 mm or greater were included in the study. Two groups were defined; ptotic eye was case group and contralateral eye was control group. Data analysis was performed Image J and Matlab softwares.ResultsThirty-four patients were included in the study. Mean age of patients was 58.8 ± 12.7 years (range 15-75 years). Mean follow-up time was 19.5 ± 7.3 months (range 8-40 months). Four patients were diagnosed with congenital ptosis and 30 patients aponeurotic ptosis. Mean preoperative degree of symmetry for overall eyelid contour was 36.6 ± 27.5% (range 1-92%). Mean postoperative degree of symmetry for overall eyelid contour was 72.4 ± 16.5% (range 55-92%). Temporal/Nasal (T/N) area ratios for contralateral normal eye was 1.19 pre-postoperative, and it was 1.11 preoperatively, 1.15 postoperatively for operated ptotic eye.ConclusionsThis study primarily demonstrated a quantitative, objective, and repeatable method to investigate the degree of symmetry after eyelid surgeries. Secondly, this study suggested that T/N ratio may not be a reliable parameter to evaluate the eyelid symmetry.
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Project description:Malignant hyperthermia (MH) is a rare pharmacogenic disorder of skeletal muscle calcium regulation, resulting from general anesthesia that can be fatal. Most cases are caused by administration of volatile anesthetics or depolarizing muscle relaxants. It has been generally reported that both of sevoflurane and succinylcholine can induce the delayed onset of MH. Here, we report a case of malignant hyperthermia in a four-year-old girl during anesthesia induction for unilateral congenital ptosis surgery, two minutes after sevoflurane and succinylcholine administration. The crisis was atypical but early recognized and managed by administration of dantrolene with symptomatic treatment.
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Project description:A mature teratoma is a germinal neoplasm that differentiates from embryonic multipotent cells into three germ layers. There may also be glandular tissue. The literature describes a total of 658 cases of ovarian neuroendocrine neoplasms, mainly in women over 40 years of age. The authors, together with a systemic review, present a case of a 16-year-old girl diagnosed with and treated for a neuroendocrine tumor. Case description: A 16-year-old girl visited the Paediatric Gynaecology Outpatient Clinic because of abdominal pains that intensified during menstruation. Standard painkillers and diastolic drugs were ineffective. An ultrasound examination revealed a large tumor with a heterogeneous structure in her right ovary. A sparing operation was carried out. During laparotomy, the lesion was enucleated, leaving healthy tissue. Histopathological examination revealed the typical features of teratoma, as well as the coexistence of a G1 neuroendocrine tumor. Immunohistochemical examination (IHC) showed the presence of markers characteristic for this type of tumor. The patient requires constant monitoring in the Endocrinology and Oncological Gynaecology Clinic. Conclusion: Tissue of neuroendocrine neoplasm within a teratoma is rare in this age group of patients; thus, there are currently no standards for long-term follow-up. This case adds to the body of evidence and demonstrates a possible good prognosis with non-aggressive behavior in G1 neuroendocrine tumors and teratomas in young patients.
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Project description:BackgroundThymolipomas are rare benign mediastinal tumors primarily occurring in young adults, although they can also present in pediatric populations. These tumors are often asymptomatic, but their substantial size can create significant diagnostic and therapeutic challenges, necessitating careful evaluation and management.Case descriptionA teenage girl was diagnosed with a giant thymolipoma, which was discovered incidentally during a routine chest radiograph. Notably, the patient remained asymptomatic despite the tumor's considerable size and its apparent impact on surrounding thoracic structures. To facilitate a thorough preoperative assessment, a multimodal imaging approach was employed, including contrast-enhanced ultrasound (CEUS), computed tomography (CT), and magnetic resonance imaging (MRI). These advanced imaging techniques played a crucial role in delineating the tumor's extent, characteristics, and relationship to adjacent anatomical structures, thereby informing surgical planning. Ultimately, the tumor was successfully excised through a median sternotomy. Postoperative pathological examination confirmed the diagnosis of thymolipoma. Remarkably, after a follow-up period of five years, the patient showed no signs of recurrence and maintained a healthy status.ConclusionsThis case underscores the effectiveness of a multimodal imaging strategy for the diagnosis and preoperative assessment of pediatric thymolipomas. It emphasizes the feasibility of complete surgical resection, even for large tumors, leading to a favorable prognosis. Moreover, it highlights the importance of tailored management strategies for pediatric patients with rare thoracic tumors, as evidenced by this successful clinical outcome.
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Project description:Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A girl aged 2.17 years presented with three months of breast development, and rapid growth. Examination showed tall stature, height +2.6 standard deviations, Tanner stage B3P2A1. A single café au lait patch was noted. Bone age was advanced at 5 years. Pelvic ultrasound showed bilaterally enlarged ovaries (estimated volumes 76 mL on the left, 139 mL on the right), each containing multiple cysts. Luteinizing hormone (LH) and follicle stimulating hormone (FSH) values before/after gonadotrophin administration were 0.43/0.18 and <0.1/<0.1 mUI/mL, serum estradiol 130 pg/mL, (prepubertal range <20 pg/mL). PPP of ovarian origin was diagnosed, and tamoxifen 20 mg daily started. However, after only seven weeks height velocity escalated and breast development increased to B3-4 with menorrhagia. Basal/stimulated LH and FSH were still suppressed at 0.13/0.25 and <0.1/<0.1 mUI/mL and, serum estradiol 184 pg/mL. Repeat imaging now showed normal right ovary (volume 1.8 mL) and a large left-sided vascular solid/cystic ovarian tumour which was excised (weight 850 g). Histology showed JGCT, International Federation of Gynecology and Obstetrics stage IA. DNA from tumour tissue showed no mutation in GNAS, exon 3 of AKT1 (which contains a mutational hotspot) or FOXL2. The observation that bilateral ovarian activity progressed to unilateral development of JGCT in this patient is novel. This case highlights current uncertainties in the ontology of JGCT, and its possible relationship with MAS.
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Project description:IntroductionRhabdomyosarcoma is a rare paediatric cancer, with the head and neck region representing a major anatomical site for rhabdomyosarcoma. In particular, orbital rhabdomyosarcoma is the most common region among children. However, rhabdomyosarcoma originating from the conjunctiva in paediatric population is a rare disease, and this knowledge is essential in order to ensure prompt treatment and early intervention.Case presentationWe discuss a rare case of primary conjunctival rhabdomyosarcoma in an 8-year-old Caucasian girl. She presented to a paediatric ophthalmology clinic with a 5-day history of a rapidly growing conjunctival lesion in the superior fornix of the right eye. An urgent excisional biopsy was performed which yielded a large 30-mm multilobulated, vascular, and papillomatous specimen with histopathological features consistent with embryonal rhabdomyosarcoma. She was urgently referred to oncology and was treated with systemic chemotherapy.ConclusionTherapeutical options and prognosis of rhabdomyosarcomas are based on clinical findings, tumour staging, and grouping, combined with histopathological and molecular features. Although rare, it is important to note that in the paediatric population, rhabdomyosarcoma can originate from the conjunctiva. Knowledge of its clinical, histopathological, and imaging characteristics is essential in order to achieve early diagnosis and timely treatment.
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