rare disorder
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2022 ◽  
Vol 12 ◽  
Author(s):  
Matthias Amprosi ◽  
Elisabetta Indelicato ◽  
Wolfgang Nachbauer ◽  
Anna Hussl ◽  
Claudia Stendel ◽  
...  

Background:Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the ACP33 gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported. Herein, we describe five subjects from the first three SPG21 families of German and Austrian descent.Methods:Five subjects with complicated HSP were referred to our centers. The workup consisted of neurological examination, neurophysiological and neuropsychological assessments, MRI, and genetic testing.Results:Onset varied from child- to adulthood. All patients exhibited predominant spastic para- or tetraparesis with positive pyramidal signs, pronounced cognitive impairment, ataxia, and extrapyramidal signs. Neurophysiological workup showed abnormal motor and sensory evoked potentials in all the patients. Sensorimotor axonal neuropathy was present in one patient. Imaging exhibited thin corpus callosum and global brain atrophy. Genetic testing revealed one heterozygous compound and two homozygous mutations in the ACP33 gene.Conclusion:Herein, we report the first three Austrian and two German patients with SPG21, presenting a detailed description of their clinical phenotype and disease course. Our report adds to the knowledge of this extremely rare disorder, and highlights that SPG21 must also be considered in the differential diagnosis of complicated HSP outside the Amish community.


2022 ◽  
pp. 153857442110683
Author(s):  
Thomas Lovelock ◽  
Stuart R Walker ◽  
Catherine Thoo

The COVID-19 pandemic has profoundly influenced the practice of medicine in Australia over the last 24 months. Recently, the development of several vaccines to COVID-19 has been accompanied by reports of an associated rare syndrome of thrombosis and thrombocytopaenia (VITTS). The possibility of this rare disorder confronts all clinicians who deal with acute thrombosis, particularly given the prevalence of patients who have recently been immunised. However, VITTS remains rare, and we believe unnecessary focus on its potential diagnosis may distract from other more common causes of acute thrombosis. We discuss this with reference to a recent case at our institution.


2022 ◽  
Vol 13 (1) ◽  
pp. 89-91
Author(s):  
Ashwani Rana ◽  
Prajul Mehta

Superficial epidermolytic ichthyosis (SEI), formerly known as ichthyosis bullosa of Siemens (IBS), is an extremely rare keratinization disorder with superficial peeling, with an estimated prevalence of 1:500,000, caused by a variety of mutations in the keratin 2E gene. The clinical features include hyperkeratosis and blistering, but these are milder than in epidermolytic hyperkeratosis. The treatment is symptomatic and involves keratolytics and emollients. Herein, we report a case of SEI with the unusual absence of spontaneous blistering.


2022 ◽  
Vol 15 (1) ◽  
pp. e245474
Author(s):  
Diana Rodrigues-Martins ◽  
Graça Buchner ◽  
Jorge Sousa Braga

As an X linked disorder, the presence of severe symptomatic haemophilia A is an extremely rare disorder in women. Therefore there are no high-level evidence-based guidelines when it comes to pregnancy. Although there have been advances in the fields of prenatal counselling and maternal-fetal care, the management of these gestations continues to embody a challenge for any medical team. We report the successful management of a pregnant woman with symptomatic haemophilia A, from pregnancy to the postpartum period. Our aim is to enhance knowledge on this topic, and further improve outcomes for these mothers and their offspring.


2021 ◽  
Vol 9 (1) ◽  
pp. 262
Author(s):  
Mezhuneituo Raleng ◽  
Sameer Anand ◽  
Shailesh Kannur

Fibroadenoma is a common abnormality which every surgeon has been exposed to, and there are several international guidelines regarding its management. However giant fibroadenomas, especially in the premenarche setting has been a rare occurrence, even for the experienced surgeon. Various reports have shown that we need to treat this condition more aggressively than the normal fibroadenoma, and issues of cosmesis in a developing breast along with the aim to preserve lactation functionality becomes an issue. Since these cases remain a single life time experience for most surgeons, there is a sparsity of treatment protocols even in literature. Through this paper we hope to shed some valuable insight to this rare disorder and help surgeon colleagues, when dealing with similar cases.


Author(s):  
Athena Farahzadi ◽  
, Habibolah Mahmoodzadeh

Candida osteomyelitis is a rare disorder. Its incidence has drastically risen during the last 3 decades. Diagnosis is delayed due to nonspecific symptoms. Thus its management is not done early which leads to increased morbidity. Here we report an immunocompetent case of candida osteomyelitis that presented with prolonged FUO.


2021 ◽  
Vol 49 (12) ◽  
pp. 030006052110633
Author(s):  
Shan Xu ◽  
Xiaohong Wu

Yellow nail syndrome (YNS) is a rare disorder, and diagnosis is based on the clinical findings and the exclusion of other possible causes; the pathogenesis is poorly understood. YNS can be an isolated condition or associated with other diseases; however, YNS associated with multiple myeloma (MM) is rare. A 53-year-old male patient presented with coughing and shortness of breath, and he was diagnosed with YNS with MM. He underwent chemotherapy and achieved a good response. Although the etiology of YNS remains unknown, treating the underlying disease may help prevent or relieve the clinical signs.


2021 ◽  
pp. 1-5
Author(s):  
Karim Abdel Aziz ◽  
Emmanuel Stip ◽  
Danilo Arnone

Summary This editorial expands on a Praxis article published by Beattie and colleagues in the trainees’ section of this journal. The authors describe an interesting case of anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis, outline the clinical presentation and make suggestions on ways to approach this rare disorder. Here we provide an overview of autoimmune conditions that result in the production of autoantibodies targeting central nervous system proteins mediating autoimmune encephalitis and offer a perspective on approaches to diagnosis and treatment.


2021 ◽  
Vol 8 (12) ◽  
pp. 1873
Author(s):  
Usha K. Raina ◽  
Shruti Bhattacharya ◽  
Prateeksha Sharma ◽  
Varun Saini

Parry-Romberg syndrome (PRS) is a rare disorder which causes progressive hemifacial atrophy, with ocular manifestations like hypotony, enophthalmos and corneal edema on the ipsilateral atrophic side. This is a report of a unique case of PRS with contalateral manifestations like ectropion uvea, correctopia and endothelial deposits, along with polymegathism and pleomorphism seen on specular microscopy suggestive of Iridocorneal Endothelial (ICE) Syndrome. ICE syndrome and PRS have not been reported together in any literature so far. This case highlights the importance of a thorough glaucoma workup and corneal examination on the atrophic facial side as well as on the apparently normal side in all cases of PRS.


2021 ◽  
Author(s):  
Jun Wang ◽  
Chuan Yu ◽  
Yiyun Jiang ◽  
Xiang Li ◽  
Yiyi Fang

Abstract Background: Wall-eyed bilateral internuclear ophthalmoplegia syndrome (WEBINO) is a rare disorder comprising bilateral exotropia, bilateral internuclear ophthalmoplegia, and impaired convergence. It is usually caused by a midbrain lesion. Case presentation :We describe a rare case of WEBINO, with the lesion located in the lower pons, in a 69-year-old man with acute ischemic stroke. Conclusions :Our report alerts physicians to the possibility of bilateral WEBINO due to unilateral infarction.


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