scholarly journals Achenbach's syndrome: a rare condition

JRSM Open ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 205427042110471
Author(s):  
Carlos I Higuera-Cetina ◽  
Lina M Montaña-Gómez ◽  
Yelson A Picón-Jaimes ◽  
Javier E Orozco-Chinome ◽  
Iván Lozada-Martínez ◽  
...  

Achenbach's syndrome corresponds to a pathology characterized by the appearance of ecchymoses and bruises on the fingers of the hands and eventually on the feet. It is a benign and self-limited disease, which is accompanied by pain. It generates great concern because its sudden appearance leads women who are the most affected to consult the emergency services. At present, its pathophysiology is unknown and requires knowledge of the disease to diagnose it. It is a must for poorly trained professionals.

2017 ◽  
Vol 16 (04) ◽  
pp. 239-242
Author(s):  
Gunnar Buyse ◽  
Lieven Lagae ◽  
Philippe Demaerel ◽  
Frank Kesteloot ◽  
Ingele Casteels ◽  
...  

AbstractWyburn–Mason syndrome is a rare condition that is characterized by ipsilateral arteriovenous malformations affecting the eye, brain, and facial skin. A conjunctival vascular dilation can be a rare ocular presenting sign. We report a 6-year-old boy who attended the hospital because of the sudden appearance of a conjunctival vascular lesion in his right eye. Inspection of his facial skin showed a subtle discoloration along the right trigeminal nerve and a vascular structure of the conjunctiva. Fundoscopy showed dilated and tortuous retinal vessels. Brain magnetic resonance imaging (MRI) revealed a large arteriovenous malformation involving the thalamus and perimesencephalic area. Ophthalmologic and neuroradiologic findings were consistent with the diagnosis of Wyburn–Mason syndrome. The sudden emergence of a vascular malformation in the conjunctiva should alert the clinician to perform an ophthalmoscopy, and in our patient, this finding was the clue to diagnosis of Wyburn–Mason syndrome. Because of the association between retinal and intracranial arteriovenous malformations, an MRI of the brain is strongly recommended in all patients with ocular arteriovenous malformations.


1992 ◽  
Vol 106 (6) ◽  
pp. 566-568 ◽  
Author(s):  
J. R. Livesey ◽  
J. V. Soames

AbstractCystic lymphangioma is a congenital lesion which rarely presents in adult life and even less commonly arises within salivary tissue. We report the sudden appearance of a large cystic lymphangioma within the parotid gland of a young man and discuss the management of this rare condition.


Crisis ◽  
2020 ◽  
Vol 41 (5) ◽  
pp. 375-382
Author(s):  
Remco F. P. de Winter ◽  
Mirjam C. Hazewinkel ◽  
Roland van de Sande ◽  
Derek P. de Beurs ◽  
Marieke H. de Groot

Abstract. Background: Outreach psychiatric emergency services play an important role in all stages of a suicidal crisis; however, empirical assessment data are scarce. This study describes characteristics of patients assessed by these services and involved in suicidal crises. Method: During a 5-year period, detailed information from psychiatric emergency service assessments was recorded; 14,705 assessments were included. Characteristics of patients with/without suicidal behavior and with/without suicide attempts were compared. Outcomes were adjusted for clustering of features within individual patients. Results: Suicidal behavior was assessed in 32.2% of patients, of whom 9.2% attempted suicide. Suicidal behavior was most commonly associated with depression or adjustment disorder and these patients were referred to the service by a general practitioner or a general hospital, whereas those who attempted suicide were less likely to be referred by a general practitioner. Those who attempted suicide were more likely to be female and have had a referral by a general hospital. Self-poisoning by medication was the most common method of attempting suicide. Limitations: Bias could be due to missed or incomplete assessments. Primary diagnoses were based on clinical observation at the time of the assessment or on the primary diagnosis previously recorded. In addition, suicidal behavior or attempted suicide might have been underestimated. Conclusions: Suicidal behavior is commonplace in assessments by psychiatric emergency services. Suicidal patients with/without a suicide attempt differed with respect to demographic features, primary diagnoses, and referring entities, but not with respect to treatment policy. About 40% of the suicidal patients with/without an attempt were admitted following assessment.


1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.


Author(s):  
Spyros Papadoulas ◽  
Konstantinos Moulakakis ◽  
Natasa Kouri ◽  
Petros Zampakis ◽  
Stavros K. Kakkos

AbstractWe present a patient suffering from a stroke with a free-floating thrombus extending up to the distal internal carotid artery. The thrombus was totally resolved after a 2-week anticoagulation regimen without leaving behind any severe residual stenosis in the carotid bulb. The optimal treatment of this rare condition remains uncertain. We report some important treatment strategies that have been used in the literature, emphasizing the anticoagulation as the mainstay of therapy. Immediate surgical and interventional manipulations carry the risk of thrombus dislodgement and embolization and should be considered if there are recurrent symptoms despite medical management.


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