Herlyn-Werner-Wunderlich syndrome and its complications: A report of two cases and literature review.
Ontology highlight
ABSTRACT:
SUBMITTER: Li X
PROVIDER: S-EPMC8237300 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:The Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare disease caused by mutations in the CSNK2B gene, which is characterized by intellectual disability and early-onset epilepsy. Mosaicism has not been previously reported in CSNK2B gene. POBINDS is autosomal dominant and almost all reported cases were de novo variants. Here, we report two patients were diagnosed with POBINDS. Using Whole Exome Sequencing (WES), we detected two novel CSNK2B variants in the two unrelated individuals: c.634_635del (p.Lys212AspfsTer33) and c.142C > T (p.Gln48Ter) respectively. Both of them showed mild developmental delay with early-onset and clustered seizures. The patient with c.634_635del(p.Lys212AspfsTer33) variant was mutant mosaicism, and the proportion of alleles in peripheral blood DNA was 28%. Further, the literature of patients with a de novo mutation of the CSNK2B gene was reviewed, particularly seizure semiology and genotype-phenotype correlations.
| S-EPMC10067874 | biostudies-literature
Project description:Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information. The optimal treatment is full excision and marsupialization of the obstructing vaginal septum so that both uteri can drain through the patent vagina. The authors report a case of a 22-year-old female with an unusual presentation of Herlyn-Werner-Wunderlich syndrome complicated by pyocolpos, which was successfully managed by vaginal septum resection and drainage of pus.
| S-EPMC5547086 | biostudies-other
Project description:Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only. Among the latter, we describe a novel male child showing developmental delay, café-au-lait spots, liner postnatal overgrowth and West-like epileptic encephalopathy. We suggest PSS cases may have epileptic spasms early in life, and PHF21A is likely to be the causative gene. Given their subtle presentation these may be overlooked and if left untreated could lead to a severe type or deterioration in the developmental plateau. If our hypothesis is correct, a timely therapy may ameliorate PSS phenotype and improve patients' outcomes. Our analysis also shows PHF21A is a candidate for the overgrowth phenotype.
| S-EPMC7693731 | biostudies-literature
Project description:We report a rare case of a 40 years old woman with primary vaginal clear cell adenocarcinoma (CCA) accompanied by Herlyn-Werner-Wunderlich syndrome (HWWS) and without any prenatal diethylstilbestrol exposure. Pathological results indicated that the CCA was surrounded by adenosis and that there was a benign to malignant transformation of several glands in the epithelium, so the CCA was believed to have arisen from the adenosis. The literature review disclosed that genitourinary anomalies might be associated with an increased risk of adenocarcinoma, but the mechanism was not clear.
| S-EPMC7716125 | biostudies-literature
Project description:We present a case of a 12-year-old female with a history of congenital solitary kidney presenting to an academic pediatric emergency department (ED) in acute abdominal pain. Using ultrasound as the initial diagnostic modality, the patient was found to have Herlyn-Werner-Wunderlich syndrome (HWWS), an abnormal development of the Müllerian system during embryogenesis resulting in obstructed hemivagina with resulting hematometrocolpos. The patient presented with undifferentiated abdominopelvic pain, and in the course of the ED workup was diagnosed with a disorder infrequently encountered by emergency physicians. We present a case of markedly abnormal point-of-care ultrasound findings prompting additional studies, ultimately leading to a diagnosis of HWWS during the initial ED visit.
| S-EPMC5965217 | biostudies-literature
Project description:IntroductionHerlyn-Werner-Wunderlich syndrome is a rare congenital disorder that consists of a didelphic uterus, hemivaginal septum, and unilateral renal agenesis. Both diagnosis and management can be challenging in low-income countries.Case presentationa 13-year-old female who experienced recurrent pelvic pain, dysmenorrhea, and abdominal mass for one month. We could not obtain the MRI as it was unavailable in our hospital, and the patient cannot afford its expensive cost in a private center. Instead, US showed an absent right kidney and doubled uterus with a heterogeneous cystic formation. A pelvic CT scan revealed an absent right kidney, an enlarged left kidney, a double uterus, and a left hematocolpos. We established the diagnosis of Herlyn-Werner-Wunderlich syndrome and started planning for correcting the anomalies via laparotomy.Discussionultrasound detects uterus didelphys, hematocolpos, hematometrocolpos, and renal agenesis but cannot identify the vaginal septum and the type of müllerian defect. The MRI is more convenient for a thorough assessment, but it is a high-priced diagnostic method.Conclusionalthough MRI is the gold standard for establishing the diagnosis and preoperative planning, ultrasound and CT scan can be an alternative, less expensive, and reliable approach. In addition, Laparoscopy or vaginoscopy may not be available in these countries. Therefore, correcting the anomalies can be achieved with laparotomy, which results in acceptable outcomes without any complications.
| S-EPMC8437768 | biostudies-literature
Project description:BackgroundPrimary hepatic neuroendocrine carcinoma (PHNEC) is extremely rare. The diagnosis of PHNEC remains challenging-partly due to its rarity, and partly due to its lack of unique clinical features. Available treatment options for PHNEC include surgical resection of the liver tumor(s), radiotherapy, liver transplant, transcatheter arterial chemoembolization (TACE), and administration of somatostatin analogues.Case presentationWe report two male PHNEC cases and discuss the diagnosis and treatment options. Both cases presented with abdominal pain; case two also presented with symptoms of jaundice. The initial diagnosis for both cases was poorly differentiated grade 3 small-cell neuroendocrine carcinoma, based on imaging characteristics and the pathology of liver biopsies. Final diagnoses of PHNEC were arrived at by ruling out non-hepatic origins. Case one presented with a large tumor in the right liver lobe, and the patient was treated with TACE. Case two presented with tumors in both liver lobes, invasions into the left branch of hepatic portal vein, and metastasis in the hepatic hilar lymph node. This patient was ineligible for TACE and was allergic to the somatostatin analogue octreotide. This limited treatment options to supportive therapies such as albumin supplementation for liver protection. Patient one and two died at 61 and 109 days, respectively, following initial hospital admission.ConclusionsWe diagnosed both cases with poorly differentiated grade 3 small-cell PHNEC through imaging characteristics, immunohistochemical staining of liver biopsies, and examinations to eliminate non-hepatic origins. Neither TACE nor liver protection appeared to significantly extend survival time of the two patients, suggesting these treatments may be inadequate to improve survival of patients with poorly differentiated grade 3 small-cell PHNEC. The prognosis of poorly differentiated grade 3 small-cell PHNEC is poor due to limited and ineffective treatment options.
| S-EPMC5831736 | biostudies-literature
Project description:BackgroundMycetoma is a chronic granulomatous infection involving cutaneous and subcutaneous tissues. It is endemic in tropical and subtropical areas, but sporadic cases have been reported also in countries of temperate climate. The purpose of this paper is to review the cases of mycetoma in European subjects (and presumably acquired in Europe), to give an insight in the main factors associated with this condition, and to describe two previously unpublished cases observed at our Centre.Methods and findingsPubMed was systematically searched for case reports and case series of mycetoma in Europeans reported between 1980 and 2014, using specific search strategies. Two further cases diagnosed by the authors are described. Forty-two cases were collected. Eleven cases were caused by Scedosporium apiospermium, mainly in immunosuppressed patients from Bulgaria, Germany, the Netherlands, Portugal, Slovenia, Spain and the United Kingdom. Excluding all patients with immunosuppression, 29 cases remain. Most of them were reported from Bulgaria and in Albanian patients (all diagnosed outside Albania). In the Bulgarian case series many different micro-organisms, both bacteria and fungi, were isolated, while all the 5 cases from Albania were caused by Actinomadura spp. Other countries reporting cases were Greece, Italy and Turkey. In general, Actinomadura spp is the most frequent causative agent isolated, followed by Nocardia spp and Madurella mycetomatis. The foot was the most reported site involved. Most patients were medically treated, but unfortunately a long-term follow up (at least one year) was available only in a few cases.ConclusionsOur review and our own cases suggest that Europeans without travel history can be affected by Madura foot. The lack of a surveillance system is likely to cause an underreporting of cases. Moreover, the unfamiliarity of Western doctors with this peculiar infection may cause a mismanagement, including unnecessary amputations.
| S-EPMC4070928 | biostudies-literature
Project description:Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of TPK deficiency with completely different phenotypes and different therapeutic effects, and 26 cases of previously reported were retrospectively reviewed to improve our understanding of the clinical and genetic features of the disease. Patients with TPK deficiency present with ataxia, dysarthria, dystonia, disturbance of consciousness, seizures, and other nervous system dysfunction. Different gene variant sites may lead to different clinical features and therapeutic effects. Gene analysis is important for the diagnosis of TPK deficiency caused by TPK1 variants, and thiamine supplementation has been the mainstay of treatment for TPK deficiency to date.
| S-EPMC10446836 | biostudies-literature
Project description:BackgroundAntiphospholipid syndrome (APS) is an autoimmune response characterized clinically by arterial or venous thrombosis. One of the rare and series forms of APS is the catastrophic APS (CAPS). The incidence of CAPS has been reported in 0.8% of patients with APS. There have been very few case reports with cardiac involvement in CAPS. Common cardiac manifestations include valvular thickening and lesions, coronary artery disease, and myocardial infarction due to microvascular thrombosis. Here, we are reporting a case of CAPS associated with heart failure and a literature review of similar cases.Case summaryA 24-year-old woman with a history of APS presented with shortness of breath and right-sided pleuritic chest pain. Computed tomography pulmonary angiogram revealed new pulmonary emboli in the right lung. After 5 days, she developed high-grade fever with negative infectious workup, acute hypoxic respiratory failure with pulmonary oedema, shock, acute kidney injury, and transthoracic echocardiography showed reduced ejection fraction and global hypokinesia. The constellation of multi-organ failure, symptoms within a week, the presence of antiphospholipid antibodies, and exclusion of other causes, CAPS was diagnosed. The patient showed significant improvement with pulse steroids, IV plasmapheresis and got discharged on oral prednisone taper and anticoagulation with home health.ConclusionThere are different cardiac complications associated with CAPS, including congestive heart failure, acute coronary syndrome, valvular lesions, and thrombus. Heart failure management in CAPS includes triple therapy of intravenous immune globulin, IV plasmapheresis, and corticosteroids rather than conventional treatment.
| S-EPMC9154055 | biostudies-literature