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1.
Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS II, also known as Hunter syndrome, is inherited in an X‐linked recessive manner and is the most common MPS. Here, we report a 1‐year and 4‐month‐old boy who presented with delayed developmental milestones, back deformity, and left scrotal swelling noticed by parents at one year of age. He has coarse facial appearance with macrocephaly, widened wrists, congenital dermal melanocytosis on his back, kyphotic deformity in the thoracolumbar area and left‐sided inguinal hernia all consistent with a suspected MPS II diagnosis. The MPS II diagnosis was subsequently confirmed with genetic testing of the IDS gene. To our knowledge, this is the first case of MPS II reported from Ethiopia. This case shows the importance of early clinical recognition of genetic conditions and the utility of genetic testing for confirmation. The diagnosis provided important surveillance and natural history information for the patient''s providers and family.  相似文献   

2.
Congenital right atrial aneurysms (RAA) have a wide range of clinical presentations and leads to various complications. Depending on the initial presentation and associated complications, a conservative or surgical approach may be considered. A patient suffering from a giant RAA associated with the Wolff‐Parkinson‐White syndrome, who underwent successful surgical treatment, is presented here.  相似文献   

3.
Guttate psoriasis is a rare dermatological presentation of SARS‐CoV‐2 infection and is seen mainly in patients with an underlying disease psoriasis.  相似文献   

4.
Pregnancy might impact immunity after SARS‐CoV‐2 infection and/or vaccination. We describe the first case of reinfection with SARS‐CoV‐2 during a pregnancy. While the mother lacked detectable antibodies 2 months after the first infection, both mother and baby had IgG antibodies at delivery. Infection did not cause any adverse pregnancy outcome.  相似文献   

5.
Our patient is a 3‐week‐old female neonate, presented with complaints of low‐grade fever and a congested nose for one day. Eventually, she developed progressive desaturation, hypotension, and poor perfusion due to severe pulmonary hemorrhage. Then, she developed cardiac arrest and was declared dead.  相似文献   

6.
This study shows that remdesivir and dexamethasone combination therapy can be considered as a suitable treatment choice for pregnant women infected with COVID‐19. It is worth mentioning that more studies are required to evaluate the efficacy and side effects of remdesivir monotherapy and its combination with dexamethasone during pregnancy.  相似文献   

7.
Development of pemphigus foliaceus (PF) following SARS‐CoV‐2 infection has only been reported in one patient who had received Bamlanivimab and thus might be considered as a drug‐induced case of PF. Here, we reported the first case of PF arising solely after COVID infection without taking any culprit drug.  相似文献   

8.
Clinicians should consider the possible association of Daunorubicin with Stevens‐Johnson syndrome (SJS), administer it with caution and promptly evaluate all subsequently developing cutaneous reactions with a high index of suspicion for Stevens‐Johnson syndrome.  相似文献   

9.
Coronavirus disease (COVID‐19) is an infectious disease. In this study, we report a 28‐year‐old pregnant woman who had a postpartum seizure with a background of HELLP syndrome and a proven COVID‐19 infection. Her child survived, and at 12‐week postpartum, all maternal COVID‐19–related symptoms vanished, and she was cured.  相似文献   

10.
Barraquer‐Simons syndrome is a rare entity characterized by progressive loss of subcutaneous tissue in the face and/or upper half of the body and can be associated with autoimmune conditions such as systemic lupus erythematosus. Close long‐term follow‐up is required to identify metabolic disturbances, potentially life‐threatening renal problems, and other associated diseases.  相似文献   

11.
We report a 49‐year‐old patient with COVID‐19 who developed lung abscess, pleural empyema, and tracheo‐esophageal fistula. He underwent cervicotomy, segmental tracheal resection, esophageal‐tracheal fistula excision, and suturing the esophagus, and a classic thoracotomy was performed. Despite the severe infection, the patient was discharged home after successful surgical treatment.  相似文献   

12.
Beckwith‐Wiedemann syndrome is a complex multisystem disorder that requires collaboration of medical and dental teamfor its diagnosis and management. We present a dental overview and an update of the clinical and molecular diagnoses of Beckwith‐Wiedemann syndrome and its management with emphasis on macroglossia.  相似文献   

13.
Pneumatocele may complicate the course of SARS‐CoV2 infection. Our article exhibits the value of early radiological imaging for the timely diagnosis and management of COVID‐19 and its complications. Conservative management is the mainstay of the treatment of pneumatoceles; however, prompt surgical intervention is imperative for complicated pneumatoceles.  相似文献   

14.
The COVID‐19 gold standard assessment tool remained the RT‐PCR of upper respiratory tract specimen extracted by the nasopharyngeal swab. A positive result would decrease through a three‐week course and eventually be undetectable. The maximum duration of viral shedding is 83 days. Besides, COVID‐19 RT‐PCR remained positive for 74 days in a patient suffering from lymphoma. In this study, we have presented a 56‐year‐old male patient, a known case of lymphoma since 2015, who experienced many episodes of chemotherapy with a five‐month positive RT‐PCR COVID‐19 laboratory test and finally was intubated and then died of opportunistic pulmonary infections. COVID‐19 patients with concurrent lymphoma failed to remove the virus thoroughly, despite providing appropriate treatment regimens.  相似文献   

15.
BackgroundThe coronavirus disease 2019 (COVID‐19) epidemic is still spreading rapidly around the world. Recent cases with prolonged severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) RNA detection have been successively reported, and the phenomenon of false‐negative real‐time polymerase chain reaction (RT‐PCR) results of SARS‐CoV‐2 RNA or “repositive” was also described in COVID‐19 patients.MethodsWe report a 69‐year‐old female patient with hypertension, suspected lung tumor, and previous history of total hysterectomy for hysteromyoma who presented with moderate COVID‐19 symptoms and was positive for SARS‐CoV‐2 RNA by RT‐PCR when she traveled from the USA to China.ResultsThe patient required second and third re‐hospitalizations due to “repositive” SARS‐CoV‐2 throat swab test results during post‐charge solitary isolation and observation, and serum SARS‐CoV‐2‐IgG decayed rapidly before disappearing on illness Day 139 when the throat swab was still positive. The virus shedding lasted for at least 146 days (the last positive throat swab test result was on illness Day 146, and the first true‐negative test result was on illness Day 151) since her initial positive test.ConclusionProlonged SARS‐CoV‐2 RNA viral shedding is prone to occur in an immunocompromised host, wherein changes in the host immune status can lead to repeated positive SARS‐CoV‐2 detection. Moreover, the SARS‐CoV‐2‐IgG may decrease rapidly and disappear before virus removal, indicating there may be certain limitations on the protective effect of the SARS‐CoV‐2 antibody, which deserves clinical attention.  相似文献   

16.
In a system already preconditioned by previous damage, as results of the cytokine release syndrome complicating the COVID‐19 disease, a small trigger may be sufficient to develop a SIADH complicating a GBS, even without a poor outcome.  相似文献   

17.
Health policymakers and clinicians should also prioritize mental, emotional and social health while treating SARS‐CoV‐2/COVID‐19, and for this, different treatment varieties of eastern medicine would be a better option to integrate into western medicine so that we could have a better result in all dimensions of health.  相似文献   

18.
We reported a case of a 14‐month‐old girl with erythematous and papulovesicular pink to red lesions on the face, the upper and the lower limbs. The history and the morphological features confirmed the diagnosis of Gianotti‐Crosti syndrome.  相似文献   

19.
Despite severe immunosuppression due to conditioning chemotherapy for acute myeloid leukemia, COVID‐19 did not lead to clinical deterioration or death, thus raising the question of the impact of immunosuppressive treatment on clinical course evolution.  相似文献   

20.
We report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985–987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient''s hypertension and hypokalemia were resolved after taking medications of glucocorticoid, aldactone, and calcium antagonists.  相似文献   

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