Prenatal diagnosis of Klippel–Trenaunay–Weber syndrome with Kasabach–Merritt syndrome in utero
We present a prenatally diagnosed case of KTWS complicated with Kasabach-Merritt syndrome in utero and fetal hydrops from acute anemia. The fetus was diagnosed with KTWS at 24 weeks of gestation based on the ultrasound findings of hemangiomas and unilateral hypertrophy of the lower extremity. Acute enlargement of the hemangiomas and the appearance of new retroperitoneal hemangiomas were detected at 27 weeks, along with skin edema and cardiomegaly. Doppler examination showed elevated peak systolic velocity in the middle cerebral artery, indicating acute fetal anemia. We believe the fetus’s condition was complicated with Kasabach-Merritt syndrome in utero, which caused acute hemolytic anemia leading to high-output cardiac failure and fetal hydrops.
Rationale: Klippel–Trenaunay Syndrome (KTS) is a congenital vascular disease characterized by cutaneous hemangiomas, venous varicosities, and limb hypertrophy. Although extremely rare in pregnant women, the present vascular alterations may be aggravated, consequent to postural and hormonal changes inherent to the pregnancy. Pregnancy is not advised in KTS women due to increased obstetrical risk. Patient concerns: A 31-year-old pregnancy woman presented with prominent vascularity in pelvis, right lower limb, spleen, and liver at 28 weeks of gestation. We started administration of anticoagulant therapy and obstetr...
CONCLUSION: The current report will increase the understanding of the diagnosis and treatment of gastrointestinal hemangiomas and provide a review of the related literature. PMID: 32327915 [PubMed - in process]
Authors: Belvis Jiménez M, Jiménez García VA, Gómez Rodríguez BJ Abstract Small intestine hemangiomas are benign vascular tumors that usually present with occult gastrointestinal bleeding. Endoscopic capsule and enteroscopy are two tools that help in your preoperative diagnosis. PMID: 32250152 [PubMed - as supplied by publisher]
We report the case of a 9-month-old girl with ulcerated breast mass which bleeds easily since two months with anemia. In fear of a malignant tumor, complete surgical removal of all breast tissue was performed successfully. Histopathologic study of the surgical specimen concluded to giant lobular capillary hemangioma with healthy borders. The infant is recurrence free at 6 months of follow up. Giant lobular capillary hemangioma of the breast with ulceration and easily bleeding may be mistaken for malignancy tumor.
Authors: Dayan D, Raz M, Kuriansky J PMID: 31280517 [PubMed - in process]
We describe the case of a 21-year-old male with anemia secondary to BRBNS, who becomes unresponsive to octreotide and shows an excellent response to sirolimus (SRL), dismissing the intravenous iron supplementations and being free of transfusions. During the treatment, the patient presents avascular hip necrosis, which is adequately treated with an injection of stem cells with complete recovery, and without the suspension of SRL. Two years later, adequate response persists with no other relevant side effects. PMID: 31232079 [PubMed - as supplied by publisher]
AbstractWe determined the prevalence of incidental extracardiac findings (IEF) at Magnetic Resonance Imaging (MRI) potentially related to anemia and hypoxia in age- and sex-matched populations (N = 318) with thalassemia major (TM) and thalassemia intermedia (TI) enrolled in the Myocardial Iron Overload in Thalassemia network. Overall, IEFs were detected in 33.3% and 25.8% of patients with TI and TM, respectively (P = 0.114). TI and TM patients had elevated but comparable prevalence of renal, splenic and liver cysts, and vertebral hemangiomas while TI patients had a significant higher frequency o...
In the past few blogs, I've been discussing the recent publication of my book,Evolution ’s Clinical Guidebook: Translating Ancient Genes Into Precision Medicine. The premise of this book is that modern medicine is based on an understanding of evolutionary processes. Evolution shows us the relationships between the subdisciplines of medicine that benefit directly from Precision Medicine (i.e., pathology, microbiology, clinical genetics, pharmacology, and bioinformatics). In Evolution's Clinical Guidebook, all of these diverse fields are brought together, under the subject of evolution. To illustrate, I have listed bel...
We report the case of a patient with a history of long-standing iron deficiency anemia where the endoscopy revealed an oozing redish semipedunculated polypoid lesion in the duodenum with a biopsy specimen consistent with a pyogenic granuloma. The lesion was removed by endoscopic resection, and during the follow-up hemoglobin level was maintained. PMID: 31021165 [PubMed - as supplied by publisher]
Authors: Heinz P, Hoffmann M, Hosie S PMID: 30940344 [PubMed - in process]