17α-hydroxylase deficiency (17-OHD) is a rare type of congenital adrenal hyperplasia (CAH), accounting for about 1% of CAH cases, with an incidence rate of 1∶50 000. This article reports on a patient with suspected 17-OHD. A gene mutation in the steroidogenic enzyme gene, CYP17A1, was identified through exome sequencing. Combined with clinical manifestations, physical examination, adrenal gland and gonadal function tests, the final diagnosis of which was CAH, and standardized treatment was provided. Therefore, based on this case, the identification and diagnosis of 17-OHD are reviewed and summarized, in order to improve clinical understanding of the disease, thereby helping to improve the clinical standardization of diagnosis and treatment of 17-OHD, which is 17-OHD, as well as providing more reference materials for the diagnosis and treatment of this disease.
Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that primarily affects the vasculature and exhibits a broad spectrum of clinical manifestations. There is a paucity of detailed literature on its clinical characteristics.
This study aims to deepen the understanding of HHT's clinical aspects by documenting the presentations, management, and outcomes of 30 patients diagnosed with the condition, thereby improving recognition and treatment approaches among healthcare professionals.
A retrospective review was conducted on 30 HHT cases treated at Peking Union Medical College Hospital from December 2012 to September 2023, focusing on analyzing their clinical features, therapeutic interventions, and follow-up outcomes.
The study included 8 males and 22 females, with a mean onset age of 20.0 years (range 10.5-34.0 years) and an average disease duration of 19.5 years (range 7.8-26.0 years). Epistaxis was universally present (100.0%), skin and mucosal telangiectasia were noted in 27 patients (90.0%), and 28 (93.3%) exhibited involvement of internal organs, including liver in 24 (80.0%), lungs in 15 (50.0%), gastrointestinal tract in 5 (16.7%), and brain in 3 (10.0%). Additionally, pulmonary hypertension was observed in 17 (56.7%) and iron deficiency anemia in 15 (50.0%). Genetic analysis in 15 patients identified ACVRL1 mutations in 12, ENG mutations in 2, and one patient with both. Beyond routine symptomatic care, some patients underwent targeted medical or interventional treatments, with the majority showing clinical improvement.
HHT is a systemic disorder affecting multiple organs, with frequent liver and occasional brain involvement. It commonly leads to serious complications such as pulmonary hypertension and iron deficiency anemia. Detailed patient history, thorough examinations, targeted screening of visceral vessels, and genetic testing are essential for early diagnosis and effective management in suspected cases.
Beckwith-Wiedemann syndrome (BWS) is a growth disorder in which BWS is associated with aberrant expression of genes imprinted in the critical region of BWS and is considered a clinical spectrum in which affected individuals may have many or only one or two typical clinical features. Postnatal neonatal screening is particularly important to facilitate early diagnosis and treatment of this disorder. In this paper, we report a case of a neonate with a large tongue as the first symptom, hypoglycemia during hospitalization, and umbilical hernia in the late follow-up, and genetic testing results suggesting that he carried a c.235T>C (p.Trp79Arg) variant as a missense variant in the coding region of the cyclin dependent kinase inhibitor 1C (CDKN1C) gene, and that a T→C transition in nucleotides at position 235 of the CDKN1C gene, i.e., a missense mutation in the amino acid located in amino acid 79. This resulted in the mutation of tryptophan to arginine. Combining the clinical features of the child with the genetic test results, the diagnosis of BWS was confirmed. The purpose of this case report and the related genetic research progress is to improve the understanding of the clinical diagnosis and treatment of BWS, and to avoid misdiagnosis and under-diagnosis.
Older adults with diabetes often have comorbidities, and are prone to acute infection. Abscess is a serious infectious disease, and untimely treatment of which may lead to sepsis and septic shock, endangering the life. Most studies on abscesses in diabetes focus on visceral abscess, among which the commonly seen are liver abscess and lung abscess, while multiple muscle abscesses have been rarely reported. We reported the diagnosis and treatment process of an older case of type 2 diabetes complicated with multiple deep muscle abscesses, and investigated the pathogenesis characteristics by referring to relevant literature, providing insights into clinical practice.
Renal agenesis and hypodysplasia (RAH) are major congenital anomalies of the kidney and urinary tract that often cause chronic kidney disease in children. Genetic factors are closely related to the pathogenesis of RAH. As whole genome sequencing techniques advance, gene mutations have been increasingly reported to be associated with RAH, among which the association of GREB1L gene mutation with renal dysplasia has been confirmed. We reported a cases of unilateral renal atrophy due to GREB1L gene c.4688A>G heterozygous mutation, and reviewed related literature. The gene mutation of the child originated from his mother, which is a rare variation and has incomplete explicit characteristics, and is assessed to be a harmful mutation by a variety of protein hazard prediction softwares. The new mutation site of GREB1L gene found by us, may expand the gene mutation spectrum and clinical spectrum related to RAH.
Heparin-induced thrombocytopenia (HIT) and venous limb gangrene (VLG) are rare complications of venous thromboembolism (VTE), with high rates of mortality and morbidity once they occur. A case of VTE with HIT characterized by VLG is reported. Relatively satisfactory therapeutic effect has been achieved under the treatment of Integrated Traditional Chinese and Western Medicine, and we hope to provide a reference for clinicians to treat such diseases.
Hereditary pancreatitis (HP) is a rare autosomal genetic disease that is often manifested by recurrent pancreatitis and complicated type 3c diabetes mellitus (T3cDM) , and even leads to pancreatic cancer, impairing the quality of life and prognosis of patients. We reported a child with HP caused by p.Val39Ala (V39A) mutation of the PRSS1 gene with a pedigree analysis, which is the first case report in China, hoping to provide clinicians with evidence for the diagnosis and treatment of HP.
Congenital absence of the internal carotid artery (ICA) is a rare congenital developmental anomaly, which is often associated with carotid canal atresia and structural abnormalities of the ICA. It may be asymptomatic, or shows noticeable symptoms such as Horner syndrome, loss of visual field, trigeminal neuralgia, pulsing tinnitus, memory dysfunction/dementia, transient ischemic attack, intracranial aneurysm, subarachnoid hemorrhage, pituitary dysfunction, and developmental malformations in multiple organs. We reported a case of congenital absence of the left ICA with Horner syndrome, aneurysm, and secondary Parkinson's syndrome. Along with the retrospective analysis of diagnosis, treatment and disease progression of this case, a review of relevant literature was conducted, to improve the recognition of this rare complication.
Due to the fact that the arteries supplying the gastrointestinal tract fail to branch out into capillaries after entering the mucosa, but instead maintain a constant vessel diameter, which lead to damage to the blood vessels under the influence of high pressure blood flow, causing Dieulafoy's disease. Dieulafoy's disease is a rare vascular malformation that primarily affects the stomach and can result in bleeding in the gastrointestinal tract, particularly in the upper part. Dieulafoy's disease in small intestine is extremely uncommon and has rarely been documented. We reported a case of jejunal Dieulafoy's lesion diagnosed by single-balloon enteroscopy, with detailed description of his diagnosis and treatment process, and carried out a literature review, with a view to increasing clinicians' understanding of the diagnosis of management of gastrointestinal tract bleeding of unknown origin.
Liver abscess is rare in children, which is caused by biliary tract disease, pyoderma, appendicitis or trauma. There is little available relevant epidemiological data. In particular, cryptogenic liver abscess is difficult to diagnose at the early stage due to unknown etiology, and few clinical manifestations such as persistent fever without obvious abdominal discomfort. A delayed diagnosis may be associated with septic shock and DIC, leading to poor prognosis. We reported the diagnosis and treatment of a child with non-overt DIC in sepsis associated with cryptogenic liver abscess induced by infection with methicillin-resistant Staphylococcus aureus. The case report and literature review indicate that cryptogenic liver abscess is a rare cause of sepsis in children, which should be considered as a potential causative factor of sepsis besides hematogenous infection when the site of infection could not be determined regardless of whether abdominal pain is present or not.
Malignant hypertension is a common hypertensive emergency, which generally progresses rapidly, often affects important target organs such as the heart, brain, and kidney, leading to organ insufficiency. Malignant hypertension may develop serious complications, among which thrombotic microangiopathy is mainly characterized by impaired tissue and organ functions due to thrombosis in the microcirculation, with critical condition and poor prognosis generally. Pancreatic involvement in malignant hypertension is rare, whose prognosis may be extreme poor and mortality may be high due to insufficient understanding of it, and lack of clinical evidence on its early diagnosis and treatment. We reported the diagnosis and treatment of a case of acute pancreatic infarction caused by malignant hypertension, aiming at providing a reference for clinical practice.
Thyrotoxic periodic paralysis (TPP) is an endocrine emergency caused by thyrotoxicosis, mainly manifesting as periodic muscle weakness and hypokalemia, which seriously threatens the health of patients. The level of hypokalemia is closely related to the severity of muscle weakness in patients with TPP, and potassium supplementation can quickly alleviate the symptom of muscle weakness and hypokalemia. However, excessive potassium supplementation can lead to acute rebound hyperkalemia in patients with TPP, which also threatens the health of patients. This article reported 3 cases of TPP patients with acute rebound hyperkalemia caused by excessive potassium supplementation, and analyzed the risk factors for rebound hyperkalemia, in order to provide more information for the clinical treatment of TPP patients.
Foot ulcers can be caused by a variety of causes, and identifying the causes is essential for treatment and prognosis. Pyoderma gangrenosum is an uncommon neutrophilic dermatosis that often accompanied by systemic diseases. The initial lesions of pyoderma gangrenosum is inflammatory papules or pustules, which rapidly progress to painful ulcers. Pyoderma gangrenosum are easily confused with local infectious diseases and diabetic feet, but the treatment options are completely different. Therefore, early and rapid diagnosis is crucial. This article reported on the diagnosis and treatment of a patient with pyoderma gangrenosum in association with Crohn's disease presenting as a giant foot ulcer, and reviewed the literature to improve clinicians' understanding of the disease and reduce misdiagnosis and mistreatment.
Non-clostridial Gas-forming Infection in Diabetes：Clinical Analysis of Two Cases
Non-clostridial organism can produce pneumoderma by breaking down sugar and other substrates in necrotic tissues, and non-clostridial gas-forming infection is usually seen in diabetic patients with poor glycemic control. The differential diagnosis between clostridial and non-clostridial gas-forming infection relies on etiological examination results, but the key to successful treatment is timely empiric broad-spectrum antibiotic treatment and emergency surgical debridement in the absence of a definitive etiologic diagnosis. This paper reported two cases of non-clostridial gas-forming infection in diabetes, and reviewed relevant literature, aiming to improve clinicians' understanding of this disease.
Lenalidomideas a Second-line Therapy Achieves Long-term Remission in Elderly Patients with Relapsed/Refractory Multicentric Castleman's Disease：a Report of Two Cases and Literature Review
No standard therapy is recommended for elderly multicentric Castleman's disease (MCD) patients who failed to the first-line treatment or relapsed. Lenalidomide has been reported to be effective for relapsed/refractory MCD in foreign countries, but its effect on this disease has been rarely reported in China. We reported two elderly patients with relapsed/refractory MCD presented with long-term remission after second-line treatment with lenalidomide, and reviewed relevant literature, then suggested that lenalidomide showed encouraging efficacy in patients with MCD, which may be an attractive alternative for relapsed/refractory MCD. Elderly patients with MCD may be more likely to benefit from lenalidomide-based treatment because of the poor general condition and various complications.
