Lance Adams syndrome: two cases report and literature review

Hypoxic myoclonus, also known as Lance Adams syndrome, is a rare syndrome that results from the serious brain damage caused by cerebral hypoxia that often follows cardiopulmonary resuscitation. This current case report describes two patients with post-hypoxic myoclonus, both of whom received cardiopulmonary resuscitation. The neurological symptoms of these two patients were significantly improved by the administration of clonazepam and sodium valproate sustained-release tablets. The report presents a literature review detailing the pathogenesis, diagnosis and treatment of Lance Adams syndrome. The timely diagnosis and treatment of Lance Adams syndrome can significantly improve the quality of life of patients. Valproic acid, clonazepam and other antiepileptic drugs can be used. Whether levetiracetam is effective for cortical myoclonus requires further clinical study.     

Acrophialophora fusispora brain abscess in a patient with acquired immunodeficiency syndrome: a case report and review of the literature

We reported a fatal case of brain abscess caused by Acrophialophora fusispora in a patient with acquired immunodeficiency syndrome. Identification of the fungus was based on microscopic morphology and sequence analyses of the internal transcribed spacer 1 (ITS1) and 2 (ITS2) of ribosomal RNA gene from the isolate recovered from brain abscess. Four published cases were reviewed as well.     

Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review

BACKGROUNDGitelman syndrome (GS) is a rare inherited autosomal recessive tubulopathy, characterized clinically by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis, and is caused by an inactivating mutation in SLC12A3. GS is prone to misdiagnosis when occurring simultaneously with hyperthyroidism. It is important to consider the possibility of other diseases when hyperthyroidism is combined with hypokalemia, which is difficult to correct.CASE SUMMARYA female patient with hyperthyroidism complicated with limb weakness was diagnosed with thyrotoxic hypokalemic periodic paralysis for 4 mo. However, the patient’s serum potassium level remained low despite sufficient potassium replacement and remission of hyperthyroidism. GS was confirmed by whole exome and Sanger sequencing. Gene sequencing revealed compound heterozygous mutations of c.488C>T (p.Thr163Met), c.2612G>A (p.Arg871His), and c.1171_1178dupGCCACCAT (p.Ile393fs) in SLC12A3. Protein molecular modeling was performed to predict the effects of the identified missense mutations. All three mutations cause changes in protein structure and may result in abnormal protein function. All previously reported cases of GS coexisting with autoimmune thyroid disease are reviewed.CONCLUSIONWe have identified a novel compound heterozygous mutation in SLC12A3. The present study provides new genetic evidence for GS.     

Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report

BACKGROUNDBainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay. BRPS is caused by a heterozygous loss-of-function mutation in the ASXL3 gene. Due to limited knowledge of the disease and lack of specific features, clinical diagnosis of this syndrome is challenging. With the use of trio-based whole exome sequencing, we identified a novel ASXL3 mutation in a Chinese boy with BRPS and performed a literature review.CASE SUMMARYA 3-year-old Chinese boy was referred to our hospital due to progressive postnatal microcephaly and intellectual disability with severe speech impairment for 2 years. His other remarkable clinical features were shown as follows: Facial dysmorphism, feeding difficulties, poor growth, motor delay, and abnormal behavior. For the proband, regular laboratory tests, blood tandem mass spectrometry, urine gas chromatographic mass spectrometry, karyotype, hearing screening, and brain magnetic resonance imaging were performed, with negative results. Therefore, for the proband and his unaffected parents, trio-based whole exome sequencing and subsequent validation by Sanger sequencing were performed. A novel nonsense variant in exon 11 of the ASXL3 gene (c.1795G>T; p.E599*) was detected, present in the patient but absent from his parents. Taking into account the concordant phenotypic features of our patient with reported BRPS patients and the detected truncated variant located in the known mutational cluster region, we confirmed a diagnosis of BRPS for this proband. The rehabilitation treatment seemed to have a mild effect.CONCLUSIONIn this case, a novel nonsense mutation (c.1795G>T, p.E599*) in ASXL3 gene was identified in a Chinese boy with BRPS. This finding not only contributed to better genetic counseling and prenatal diagnosis for this family but also expanded the pathogenic mutation spectrum of ASXL3 gene and provided key information for clinical diagnosis of BRPS.     

Prenatal diagnosis and multidisciplinary management: a case report of congenital granular cell epulis and literature review

Congenital granular cell epulis (CGCE) is a rare benign soft tissue lesion that usually originates from the neonatal gingiva and can lead to difficulty in breathing and feeding upon birth. This current case report describes a female newborn with a gingival mass that was identified by prenatal fetal ultrasonography. At birth, the oral mass was observed to protrude from the mouth, which adversely affected feeding. The lips could not be closed. The breathing was unaffected. Through a multidisciplinary team approach involving several healthcare professionals, the mass was successfully removed under general anaesthesia during an uncomplicated surgical procedure. Postoperative histopathological examination confirmed that the mass was a CGCE of the newborn. The infant recovered well after the operation.     

妊娠继发嗜血细胞综合征1例并文献复习

嗜血细胞综合征，又称噬血细胞淋巴组织细胞增多症(HLH)是一组异质性疾病，其特征是由于T细胞、巨噬细胞和组织细胞的激活失控导致的高炎症状态，并伴有细胞因子的过度产生，除非及时发现和治疗，否则这种少见的疾病几乎是致命的。HLH是成人最严重的临床疾病之一，死亡率为40%，妊娠合并HLH的相关报道较少。本篇文章和大家分享1例妊娠继发HLH的病例，并作相关HLH的文献复习。     

A child with bronchiectasis,chronic mucocutaneous candidiasis,and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long‐term sequelae.     

血镁正常的Gitelman综合征1例及文献复习

目的 探讨Gitelman综合征的临床特点,评价血镁在鉴别Gitelman综合征和Bartter综合征中的价值。方法 回顾性分析河北医科大学第二医院内分泌科收治的1例正常血镁的Gitelman综合征患者的临床表现、诊疗过程及结局,并进行相关文献复习。结果 患者临床表现为低钾血症、代谢性碱中毒、正常血镁、低血压及肾素-血管紧张素-醛固酮系统活化,经基因检测明确Gitelman综合征的诊断。结论 Gitelman综合征表型存在异质性,基因型-表型研究尚不完善。以低镁血症区分Gitelman综合征和Bartter综合征是不严谨的,应进一步行基因检测明确诊断。     

Delayed postanoxic encephalopathy: a case report and literature review

Delayed postanoxic encephalopathy is a rare condition in which patients appear to make a complete clinical recovery after an episode of anoxia or hypoxia but then develop a relapse characterized by apathy, confusion, agitation, and/or progressive neurologic deficits. The incidence of delayed postanoxic encephalopathy is unclear but has been reported to range from less than 1 to 28 per 1000 in patients who have suffered hypoxic or anoxic events. The exact pathogenesis remains unknown. We describe a case of an independently living 51-year-old woman admitted to an inpatient rehabilitation unit 11 days after a respiratory arrest. At admission, she exhibited cognitive and visual deficits that were relatively mild but prevented a safe return to independent living. Two days later, she developed the sudden onset and rapid worsening of parkinsonian symptoms and excruciating bilateral lower-extremity pain. The pain was intractable, and over the next 2 days she progressed to being unable to walk or perform her activities of daily living without maximum assistance. A diagnosis of delayed postanoxic encephalopathy was made, and the patient responded to a trial of carbidopa and levodopa as well as redirection of her physical and occupational therapy programs. This case illustrates the unusual presentation of delayed postanoxic encephalopathy during inpatient rehabilitation and suggests that this condition should be considered if patients who have suffered an anoxic or hypoxic event show a sudden neurologic deterioration.     

Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literature

BACKGROUNDDubin-Johnson syndrome (DJS) is a benign autosomal recessive liver disease involving mutations of the ABCC2 gene. It is characterized by chronic or intermittent conjugated hyperbilirubinemia, with chronic idiopathic jaundice as the main clinical manifestation. Genetic alterations of the ABCC2 gene are commonly used for diagnosing DJS; however, the causative ABCC2 point mutation in Chinese patients remains unknown. Research on ABCC2 mutations in Chinese DJS patients is extremely rare, and the diagnosis of DJS remains limited. The routine analysis of ABCC2 mutations is helpful for the diagnosis of DJS. Here, we report the clinical characteristics and ABCC2 genotype of an adult female DJS patient. This article is to expound the discovery of more potentially pathogenic ABCC2 variants will that contribute to DJS identification.CASE SUMMARYThis study investigated a woman referred for DJS and involved clinical and genetic analyses. ABCC2 mutations were identified by next-generation sequencing (NGS). The patient showed intermittent jaundice and conjugated hyper-bilirubinemia. Histopathological examinations were consistent with the typical phenotype of DJS. Genetic diagnostic analysis revealed an ABCC2 genotype exhibiting a pathogenic variant, namely c.2443C>T (p.Arg815*), which has not been reported previously in the domestic or foreign literature.CONCLUSIONPathogenic ABCC2 mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and such tests of further cases will better illuminate the relationship between various genotypes and phenotypes of DJS.     

Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report

BACKGROUNDKabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation, in China. CASE SUMMARYThis study reports a de novo KDM6A mutation in a Chinese infant with KS. A 2-month-old Chinese baby was diagnosed with KS, which manifested as hypoglycemia, congenital anal atresia at birth, feeding difficulties, hypotonia, and serious postnatal growth retardation. He died of recurrent respiratory infections at age 13 mo. DNA sequencing of his blood DNA revealed a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19). CONCLUSIONWe present a Chinese KS patient with a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum.     

Peutz-Jeghers syndrome with mesenteric fibromatosis: A case report and review of literature

BACKGROUND Peutz-Jeghers syndrome(PJS) and mesenteric fibromatosis(MF) are rare diseases,and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who underwent total colectomy and MF surgical excision without regular follow-up. Two years later, he sought treatment for recurrent acute abdominal pain. Emergency computed tomography showed multiple soft tissue masses in the abdominal and pelvic cavity, and adhesions in the small bowel and peritoneum. Partial intestinal resection and excision of the recurrent MF were performed to relieve the symptoms.CASE SUMMARY A 36-year-old male patient underwent total colectomy for PJS with MF. No regular reexamination was performed after the operation. Two years later, due to intestinal obstruction caused by MF enveloping part of the small intestine and peritoneum, the patient came to our hospital for treatment. Extensive recurrence was observed in the abdomen and pelvic cavity. The MF had invaded the small intestine and could not be relieved intraoperatively. Finally, partial bowel resection, proximal stoma, and intravenous nutrition were performed to maintain life.CONCLUSION Regular detection is the primary way to prevent deterioration from PJS. Although MF is a benign tumor, it has characteristics of invasive growth and ready recurrence. Therefore, close follow-up of both the history of MF and gastrointestinal surgery are advisable. Early detection and early treatment are the main means of improving patient prognosis.     

Dyspnoea and diffuse pulmonary nodules in a patient with pulmonary veno-occlusive disease: a case report and literature review

Pulmonary veno-occlusive disease (PVOD) is a rare type of pulmonary hypertension characterized by capillary damage or arterial pulmonary hypertension. Early lung transplantation is the only effective treatment for PVOD because of the lack of specificity in its clinical manifestations and its rapid progression and poor prognosis. A 28-year-old woman presented with exertional dyspnoea. A chest computed tomography scan revealed diffuse centrilobular ground glass opacities in both lungs, a ratio of the transverse diameter of the main pulmonary trunk to the ascending aorta of >1, and enlargement of the right ventricle and right atrium. A right atrial floating catheter test showed right ventricular pressure of 82/0/4 mmHg, mean pulmonary artery pressure of 83/34/53 mmHg, and pulmonary artery wedge pressure of 15/8/12 mmHg. A mutation was found in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene. Thus, the patient was diagnosed with PVOD and subsequently given standard bosentan treatment (62.5 mg twice a day). However, after 6 months of follow-up, there was no significant improvement in the pulmonary artery pressure or activity tolerance (6-minute walking test). Therefore, cardiopulmonary transplantation was performed. Early diagnosis and timely treatment of PVOD may improve the patient’s prognosis.     

Primary soft tissue chondroma of the posterior mediastinum: a rare case report and literature review

A chondroma is a common benign cartilaginous tumor. However, a primary soft tissue chondroma of the posterior mediastinum is very rare. We herein report a case involving a 51-year-old man with a posterior mediastinal mass. The mass was dissected by thoracoscopy through the eighth intercostal space. Pathological examination led to a definitive diagnosis of a primary mediastinal chondroma with no criteria of malignancy. Preoperative diagnosis of a posterior mediastinal soft tissue chondroma is not easy because of its rarity and lack of typical features other than calcification. When a posterior mediastinal well-circumscribed soft tissue mass contains calcification and shows no obvious enhancement, the possibility of a soft tissue chondroma should be considered.     

The FLT3 Y842D mutation may be highly sensitive to midostaurin: a case report

A Y842D mutation within the activation loop of fms-like tyrosine kinase 3 (FLT3) has been shown to confer strong resistance to sorafenib in vitro. Whether this type of mutation exerts clinically significant effects in patients with acute myeloid leukaemia (AML) remains unclear. Here, a novel Y842D activating mutation within the kinase domain of FLT3, in a pregnant patient with de novo hyperleucocyte acute myeloid leukaemia, is described. Following induction failure with standard dose idarubicin and cytarabine (IA), the patient received re-induction combined with midostaurin, a promising agent targeting mutant-FLT3, and IA regimen. Fortunately, morphological remission was achieved. During the period of midostaurin treatment, the patient exhibited a symptom that was characteristic of differentiation syndrome, which disappeared following treatment with methylprednisolone. The present case revealed that Y842D, an uncommon activating mutation in the activation loop of FLT3, may be a midostaurin-sensitive mutation type in patients with acute myeloid leukaemia.     

Porocarcinoma of the left arm: A report of a rare skin cancer case and literature review

Porocarcinoma is a rare type of skin cancer that develops from the intraepidermal ductal part of eccrine sweat glands. It can arise de novo or from poroma ground with high potential for locoregional metastatic spread, morbidity, and mortality. It mostly occurs in elderly patients.     

Late-onset Leigh syndrome without delayed development in China: A case report

BACKGROUNDLeigh syndrome (LS) is one of the most common mitochondrial diseases in infants and children. LS often manifests as early-onset with delayed phenotypic development. However, late-onset LS with normal development and white matter lesions in the brain is rarely reported, thereby highlighting the phenotypic variability of LS expression. CASE SUMMARYWe report a 12-year-old boy who presented with an unusual late-onset and fulminant form of LS that is maternally inherited without developmental delay. The patient was admitted to the hospital with symptoms of ptosis and somnolence, and died within 2 mo. Analysis of peripheral blood leukocytes showed a homoplasmic m.9176T>C mutation in the patient. Magnetic resonance imaging also revealed lesions in bilateral white matter as well as symmetrical lesions in the basal ganglia and brain stem. The patient was diagnosed with LS. The patient was treated with vitamin C, vitamin D, and adenosine-triphosphate. The patient died within 2 mo of hospital admission.CONCLUSIONLS can present in both infants and older children with different phenotypes.     

Synovial chondromatosis of the temporomandibular joint with 400 loose bodies: a case report and literature review

Synovial chondromatosis (SC) is a benign condition characterized by the formation of metaplastic cartilage in the synovial membrane of the joint, resulting in numerous attached and unattached osteocartilaginous bodies. SC mostly affects the large synovial joints, especially the knee, hip, elbow, and ankle, whereas involvement of the temporomandibular joint (TMJ) is rare. Approximately 240 cases of SC of the TMJ have been reported in the English-language literature to date. The number of loose bodies varies among patients but usually ranges from the dozens to around 100. We herein report a case of SC of the TMJ accompanied by approximately 400 loose bodies in a healthy 53-year-old woman. Such a high number of loose bodies within a small space is extremely rare. We also include a brief discussion about the differential diagnoses and current diagnostic approaches to SC of the TMJ. Notably, delayed diagnosis or misdiagnosis is common because of the nonspecific nature of the presenting complaints.