Retraction Note: Fatal factitious Cushing syndrome (Munchhausen's syndrome) in a patient with macroprolactinoma and silent corticotrophinoma: case report and literature review.
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ABSTRACT:
SUBMITTER: Minanni CA
PROVIDER: S-EPMC5471665 | biostudies-other | 2016
REPOSITORIES: biostudies-other
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Project description:IntroductionCushing's syndrome (CS) is a rare and severe disease. Acute pancreatitis is the leading cause of hospitalization. The association of the two disease is rare and uncommon. We report the case of a 37-year-old woman admitted in our service for acute pancreatitis and whose Cushing syndrome was diagnosed during hospiatilisation. The aim of this work is to try to understand the influence of de Cushing in acute pancreatitis and to establish a causative relationship between the two diseases.ObservationIt is a 37-year-old woman with a history of corticosteroid intake for six months, stopped three months ago who consulted for epigastralgia and vomiting. The physical exam found epigastric sensitivity with Cushing syndrome symptoms. A CT scan revealed acute edematous-interstitial pancreatitis stage E of Balthazar classification. 24 h free cortisol of 95 μg/24 h and cortisolemia of 3.4 μg/dl. The patient was treated symptomatically and referred after to endocrinology service for further treatment.ConclusionThe association with acute pancreatitis and CS is rare and uncommon. Although detailed studies and evidence are lacking, it can therefore be inferred that CS is one of the risk factors for the onset of acute pancreatitis. The medical treatment and management of acute pancreatitis in those patients do not differ from other pancreatitis of any etiologies.
| S-EPMC8058516 | biostudies-literature
Project description:BackgroundMonosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported.Case presentationWe describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21.DiscussionOur patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome; we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. The HES3 gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve's nucleus. We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients.
| S-EPMC7487539 | biostudies-literature
Project description:BackgroundCushing syndrome coexisting with multiple myeloma has been previously described in a few reports. Overlapping clinical manifestations can lead to misdiagnoses.Case presentationWe presented an extremely rare case of a 33-year-old Thai woman with concomitant kappa light chain myeloma with adrenal Cushing syndrome, both of which were related to skeletal manifestations. A precedence report indicated that treatment of the Cushing syndrome could exacerbate the myeloma symptoms. Therefore, we were faced with the dilemma of which disease should be addressed first. We decided to treat our patient with a combination chemotherapy followed by an autologous stem cell transplant. Subsequently, a left laparoscopic adrenalectomy was successfully undertaken.ConclusionWe have reported the first association between adrenocorticotropic hormone-independent Cushing syndrome resulting from a left autonomous cortisol-secreting adrenal adenoma, and multiple myeloma.
| S-EPMC6088412 | biostudies-literature
Project description:BackgroundCostello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin, cardiovascular abnormalities, and a variable degree of intellectual disability.Case presentationWe describe the case of a 20-month-old male patient with fetal macrosomia and polyhydramnios, presenting psychomotor development delay and growth limitation during the first months of life. CS was diagnosed at four months of age after detecting a variant of the HRAS gene c.35G > C (p.G12A). A clinical description of his condition was recorded throughout his life, including cardiovascular diseases, endocrine disorders, and recurrent infections. At 20 months of age, after presenting events of marked hypotonia and generalized seizures, brain magnetic resonance revealed symmetrical lesions of the infra- and supratentorial white matter in both cerebral hemispheres, which resulted in the diagnosis of cerebral leukodystrophy. The patient had a rapid and progressive deterioration that eventually led to death.ConclusionsThis is the first report of a case of CS in Peru. In addition, this is a case that presented with multisystemic conditions culminating in leukodystrophy, which is a rare event according to the literature.
| S-EPMC10364348 | biostudies-literature
Project description:BackgroundCafé-au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, and liver and cardiac dysfunction are presenting features of neonatal McCune-Albright syndrome (MAS), CS being the rarest endocrine feature. Although spontaneous resolution of hypercortisolism has been reported, outcome is usually unfavorable. While a unified approach to diagnosis, treatment, and follow-up is lacking, herein successful treatment and long-term follow-up of a rare case is presented.Clinical caseAn 11-day-old girl born small for gestational age presented with deterioration of well-being and weight loss. Large hyperpigmented macules on the trunk, hypertension, hyponatremia, hyperglycemia, and elevated liver enzymes were noted. ACTH-independent CS due to MAS was diagnosed. Although metyrapone (300 mg/m2/day) was started on the 25th day, complete remission could not be achieved despite increasing the dose up to 1,850 mg/m2/day. At 9 months, right total and left three-quarters adrenalectomy was performed. Cortisol decreased substantially, ACTH remained suppressed, rapid tapering of hydrocortisone to physiological dose was not tolerated, and supraphysiological doses were required for 2 months. GNAS analysis from the adrenal tissue showed a pathogenic heterozygous mutation. During 34 months of follow-up, in addition to CS due to MAS, fibrous dysplasia, hypophosphatemic rickets, and peripheral precocious puberty were detected. She is still regularly screened for other endocrinopathies.ConclusionNeonatal CS due to MAS is extremely rare. Although there is no specific guideline for diagnosis, treatment, or follow-up, addressing side effects and identifying treatment outcomes will improve quality of life and survival.
| S-EPMC10407558 | biostudies-literature
Project description:[This retracts the article DOI: 10.5114/wiitm.2017.66025.].
| S-EPMC5502346 | biostudies-other
Project description:IntroductionSilent sinus syndrome is a rare disorder that presents a diagnostic challenge, most of the patients with this syndrome present with ophthalmological complaints without any nasal sinus symptoms, and it has a painless course and slow development. The syndrome can be diagnosed clinically and confirmed radiologically, and CT imaging is considered the gold standard for its diagnosis. The classical radiographic findings are opacification and collapse of the sinus walls. Functional endoscopic sinus surgery (FESS) is the standard gold treatment of choice to arrest the progression of the disease.Presentation of caseA case report of a 37-years-old-female who was complaining of severe throbbing pain since 2009, is presented here where the diagnosis of SSS was obtained in 2018, this delay in diagnosing the situation had affected the patient lifestyle tremendously.DiscussionAccordingly, knowledge of the signs and features of SSS can result in an accurate diagnosis. Suspected cases of silent sinus syndrome require prompt ear, nose, and throat referral for consideration of definitive diagnosis and surgical management. Nasal endoscopy and clinical evaluation are also essential for the diagnosis.ConclusionOur recommendation is to consider SSS as a differential diagnosis for patients with spontaneous enophthalmos and hypoglobus, even in the absence of maxillary sinus opacification. Moreover, encourage all the specialists in the medical and the dental field to communicate well together in cases like this.
| S-EPMC7452470 | biostudies-literature
Project description:Nocardiosis is known as an opportunistic infection in immunocompromised hosts. We present to you a case of pleural nocardiosis in a 38-year-old male patient who was a chronic smoker and presented with a left-sided pleural effusion. He was a known case of thrombocytopenia due to immune thrombocytopenia (ITP) and was on steroid therapy. On admission, he was found to be positive for HIV. Pleural fluid was sent to microbiology, where acid-fast staining with 1% sulfuric acid (H2SO4)showed acid-fast branching filamentous rods and cultures grew Nocardia, which was resistant to ampicillin, ceftriaxone, imipenem, cotrimoxazole, erythromycin, tetracycline, and susceptible to amikacin, linezolid, and levofloxacin. The isolate was identified as Nocardia otitidiscaviarum using 16S rRNA gene sequencing. Culture from the chest wall drain grew Escherichia coli and Stenotrophomonas maltophilia. Subsequently, the patient developed sepsis, and paired blood cultures grew Candida guilliermondii. Unfortunately, the patient could not survive despite aggressive efforts and died after 40 days of admission.
| S-EPMC10858340 | biostudies-literature
Project description:IntroductionIt has been hypothesized that silent hypoxemia is the cause of rapid progressive respiratory failure with severe hypoxia that occurs in some COVID-19 patients without warning.Presentation of caseA 60-year-old male presented cough without any breathing difficulty. Vital signs showed blood pressure 130/75 mmHg, pulse 84x/minute, respiratory rate (RR) 21x/minute, body temperature 36.5C, and oxygen saturation (SpO2) 75% on room air. RT-PCR for COVID-19 were positive. On third day, he complained of worsening of breath shortness, but his RR was still normal (22x/minute) with SpO2 of 98% on 3 L/minute oxygen via nasal cannula. On fifth day, he experienced severe shortness of breath with RR 38x/minute. He was then intubated using a synchronized intermittent mandatory ventilation. Blood gas analysis showed pH 7.54, PaO2 58.9 mmHg, PaCO2 31.1 mmHg, HCO3 26.9mEq/L, SaO2 94.7%, FiO2 30%, and P/F ratio 196 mmHg. On eighth day, his condition deteriorated with blood pressure 80/40 mmHg with norepinephrine support, pulse 109x/minute, and SpO2 72% with ventilator. He experienced cardiac arrest and underwent basic life support, then resumed strained breathing with return of spontaneous circulation. Blood gas analysis showed pH 7.07, PaO2 58.1 mmHg, PaCO2 108.9 mmHg, HCO3 32.1mEq/L, SaO2 78.7%, FiO2 90%, and P/F ratio 65 mmHg. Three hours later, he suffered cardiac arrest again and eventually died.DiscussionPossible mechanisms of silent hypoxemia are V/Q mismatch, intrapulmonary shunting, and intravascular microthrombi.ConclusionsSilent hypoxemia might be considered as an early sign of deterioration of COVID-19 patients, thus, physician may be able to intervene early and decrease its morbidity and mortality.
| S-EPMC7685064 | biostudies-literature
Project description:Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1, MSH2, MSH6, and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene) with a synchronous papillary thyroid cancer. Six years later, she developed metachronous breast cancer. Metastatic bone disease developed after 3 years, and the disease burden was due to both breast and thyroid diseases. Despite multiple interventions for both metastatic breast and thyroid diseases, the patient's metastatic burden progressed and she died of leptomeningeal metastatic disease. Two prior case reports suggested thyroid cancer may be an extraintestinal malignancy of the Lynch syndrome cancer group. Hence, this study examined the genetic relationship between the patient's known Lynch syndrome and her thyroid cancer. The thyroid cancer tissue showed normal expression of MSH2, suggesting that the tumor was not due to the oncogenic mutation of Lynch syndrome, and molecular analysis confirmed BRAF V600E mutation. Although in this case the thyroid cancer was sporadic, it raises the importance of considering cancer genetics in familial cancer syndromes when other cancers do not fit the criteria of the syndrome. Careful documentation of other malignancies in patients with thyroid cancer and their families would assist in better understanding of any potential association. Appropriate genetic testing will clarify whether a common pathogenic mechanism links seemingly unrelated cancers.
| S-EPMC5533473 | biostudies-other