Thyrotoxicosis in a 13-year-old girl following pituitary adenectomy for Cushing's disease.
Ontology highlight
ABSTRACT:
SUBMITTER: Sigmarsdottir AA
PROVIDER: S-EPMC5538062 | biostudies-other | 2017 Aug
REPOSITORIES: biostudies-other
Similar Datasets
Project description:Germinomas presenting with a pituitary stalk lesion and panhypopituitarism are rare in children, and their definite diagnosis is challenging. An invasive diagnostic approach, such as a transsphenoidal biopsy, is often required prior to establishing a treatment regimen. A 13-year-old female presented with 1 year of secondary amenorrhea, fatigue, and progressive thirst with polyuria. Laboratory work-up revealed panhypopituitarism (central hypothyroidism, hypogonadotropic hypogonadism, adrenal insufficiency and central diabetes insipidus). ?-Fetoprotein and ?-human chorionic gonadotropin were not elevated in serum nor in cerebrospinal fluid. The magnetic resonance imaging (MRI) of the pituitary region showed an enhancing infundibular lesion, extending into the hypothalamus, and infiltrating the pituitary gland. A transsphenoidal biopsy of the infundibular lesion confirmed the diagnosis of germinoma (germ-cell tumor). After appropriate hormone replacement therapy, chemotherapy and low-dose radiation therapy, the patient achieved complete resolution of the pituitary stalk lesion on the MRI.
| S-EPMC4727445 | biostudies-literature
Project description:Here, we report the main characteristics of Actinomyces urinae strain Marseille-P2225(T) (CSURP2225) isolated from a human urine sample.
| S-EPMC4915952 | biostudies-literature
Project description:Left ventricular noncompaction (LVNC) is a distinct cardiomyopathy that is morphologically characterized by a two-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. We present a case report regarding the identification of a new mutation in TNNI3 in a patient with LVNC using next-generation sequencing. A 13-year-old girl who had no family history of cardiac disease was hospitalized with dyspnea after exercise and electrocardiographic abnormalities during a school screening. Based on her clinical features, she was diagnosed with LVNC. Via genetic analysis, a TNNI3 heterozygous missense variant was identified in the proband. Although mutations in TNNI3 have been reported in patients with hypertrophic cardiomyopathy and restrictive cardiomyopathy, this is the first report of a mutation in this gene in a patient with LVNC. <Learning objective: We identified a variant in TNNI3 in a patient with isolated left ventricular noncompaction using next-generation sequencing (NGS). Mutations in TNNI3 have been reported in patients with hypertrophic cardiomyopathy and restrictive cardiomyopathy. The use of NGS also results in the identification of multiple genetic variants of unknown significance to the investigated disease.>.
| S-EPMC6149604 | biostudies-literature
Project description:Cushing's disease (CD) is caused by a pituitary corticotroph neuroendocrine tumor inducing uncontrolled hypercortisolism. Transsphenoidal surgery is the first-line treatment in most cases. Nonetheless, some patients will not achieve cure even in expert hands, others may not be surgical candidates and a significant percentage will experience recurrence. Many patients will thus require medical therapy to achieve disease control. Pharmacologic options to treat CD have increased in recent years, with an explosion in knowledge related to pathophysiology at the molecular level. In this review, we focus on medications targeting specifically pituitary adrenocorticotropic hormone-secreting tumors. The only medication in this group approved for the treatment of CD is pasireotide, a somatostatin receptor ligand. Cabergoline and temozolomide may also be used in select cases. Previously studied and abandoned medical options are briefly discussed, and emphasis is made on upcoming medications. Mechanism of action and available data on efficacy and safety of cell cycle inhibitor roscovitine, epidermal growth factor receptor inhibitor gefitinib, retinoic acid, and silibinin, a heat shock protein 90 inhibitor are also presented.
| S-EPMC5938400 | biostudies-literature
Project description:A 12-year-old girl with bilateral stage 2B Coats disease was screened meticulously for a possible underlying systemic disease as she was female and the disease was bilateral. Full systemic workout turned out to be unremarkable. However, an ABCA4 gene mutation was found in the genetic analysis. NDP and TINF2 gene mutations were not present. She was successfully treated with a bilateral, single intravitreal injection of dexamethasone implant and a single session of indirect laser photocoagulation with a relatively good anatomic and functional result. To the best of our knowledge, the present case is the only reported case of Coats disease with an ABCA4 gene mutation.
| S-EPMC6120373 | biostudies-literature
Project description:Pseudo-aneurysm is a fatal disease, and the main cause of death is massive hemorrhage secondary to the rupture of the aneurysm. This case report aims to evaluate the effects of pseudo-aneurysm excision procedure on the disease. A 4-year-old girl was readmitted on the 20th day after ventricular septal defect (VSD) closure procedure with a high fever of 40°C; aortic pseudo-aneurysm was suspected based on a spherical cystic echo (82 × 76 mm) of the ascending aorta which was detected by ultrasonic cardiogram, and the diagnosis was confirmed by an aortic computed tomograph angiography (CTA) examination and intraoperative findings. Treatment included emergency pseudo-aneurysm excision procedure and antibiotic therapy. The aortic pseudo-aneurysm was surgically removed under deep hypothermia and circulatory arrest. Antibiotics were applied according to the bacterial culture results. The pseudo-aneurysm was excised successfully, and the patient achieved a good recovery. Our case suggests that the postoperative ascending aortic pseudo-aneurysm was probably due to inappropriate purse-string suture and/or local or systematic infection, so extra precautions should be taken to avoid this life-threatening complication.
| S-EPMC7917069 | biostudies-literature
Project description:SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.
| S-EPMC5418728 | biostudies-literature
Project description:We provide a case report of two thyroid nodules in an 8-year-old girl, which revealed malignant ultrasonographic findings and which were confirmed as ectopic thymic tissue by total thyroidectomy. The ultrasound presentations of intrathyroidal thymus glands were similar to those of the malignant thyroid nodules. In addition, in this case, there were two ectopic thymus lesions in the thyroid gland, which undoubtedly increased the difficulty of diagnosis. The occurrence of multiple ectopic thymic lesions in the thyroid gland was different from previous reports. Therefore, clinicians should take into consideration this rare entity, and should not mistake it as a thyroid neoplasm; moreover, they should not perform extensive thyroid resection.
| S-EPMC7036638 | biostudies-literature
Project description:Echinococcosis, also called hydatid disease, is a parasitic disease that passes from animals to humans. Literature reports suggest very rare cases of cerebral hydatid cysts. Brain involvement with hydatid disease occurs in 1%-2% of all Echinococcus infections. In this report, we aim to emphasize the presentation of such an isolated primary cerebral hydatid cyst, discuss its radiological features, Emergency department management, inpatient medical management, referral to neurosurgery, consequent operative procedures, postoperative care, and outcome.
| S-EPMC6159100 | biostudies-literature
Project description:A 22-year-old girl presented with convulsive status epilepticus and a previous history of recurrent seizures, myoclonus, ataxia and impaired cognitive functions. Neurological examination revealed rest and action-induced myoclonus, pyramidal signs and opposition hypertonia. Testing revealed severe metabolic acidosis, elevated transaminases and creatine kinase, and respiratory insufficiency. After intubation and ventilation, thiopental was introduced but the patient's condition worsened dramatically with death in a few hours. Autopsy showed profuse periodic acid-Schiff (PAS) positive intracellular inclusions in the CNS (Lafora bodies), most abundant in thalamus, cerebellum, and brainstem, as well as in other organs. Genetic testing revealed a homozygous missense mutation (c.205C > G, P69A) in the EPM2B (NHLRC1) gene, confirming the diagnosis of progressive myoclonic epilepsy Lafora-type.
| S-EPMC8094710 | biostudies-literature