scholarly journals Life-threatening large subcutaneous hematoma after minor head trauma: A young female patient who was suspected of having new Ehlers-Danlos syndrome

2015 ◽  
Vol 10 (2) ◽  
pp. 148
Author(s):  
Takahiro Ota ◽  
Tohru Mizutani ◽  
So Fujimoto
Keyword(s):  
Female Patient ◽  
Head Trauma ◽  
Young Female ◽  
Minor Head Trauma ◽  
Ehlers Danlos Syndrome ◽  
Life Threatening ◽  
Danlos Syndrome

scholarly journals Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

2014 ◽  
Vol 100 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Glenda Sobey
Keyword(s):  
Genetic Basis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Connective Tissue Disorders ◽  
Internal Organs ◽  
Ehlers Danlos Syndrome ◽  
Starting Point ◽  
Life Threatening ◽  
Danlos Syndrome

The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.

Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

2021 ◽  
Vol 14 (7) ◽  
pp. e243132
Author(s):  
Inês Pimenta ◽  
Rita Varudo ◽  
Filipa Castelao ◽  
Filipe André Gonzalez
Keyword(s):  
Subarachnoid Haemorrhage ◽  
Medical History ◽  
Type Iii Collagen ◽  
Aneurysmal Subarachnoid Haemorrhage ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Gene Coding ◽  
Col3a1 Gene ◽  
Life Threatening ◽  
Danlos Syndrome

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

scholarly journals A young female patient with reflex sympathetic dystrophy of the upper limb in whom amputation became inevitable

1997 ◽  
Vol 21 (2) ◽  
pp. 159-161 ◽  
Author(s):  
J. H. B. Geertzen ◽  
J. S. Rietman ◽  
A. J. Smit ◽  
K. W. Zimmerman
Keyword(s):  
Range Of Motion ◽  
Female Patient ◽  
Upper Limb ◽  
Reflex Sympathetic Dystrophy ◽  
Young Female ◽  
Restricted Range ◽  
Burning Pain ◽  
Life Threatening ◽  
Unbearable Pain ◽  
Autonomic Disturbances

Reflex sympathetic dystrophy (RSD) is characterized mostly by: (burning) pain, restricted range of motion, oedema and autonomic disturbances. Amputations in case of RSD patients should only be performed in cases of a dysfunctional limb, life threatening conditions such as untreatable infections or in cases of unbearable pain. The authors describe a patient in whom amputation became inevitable because of threatening infections.

scholarly journals Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

2012 ◽  
Vol 158A (4) ◽  
pp. 850-855 ◽  
Author(s):  
N.C. Voermans ◽  
M. Kempers ◽  
M. Lammens ◽  
N. van Alfen ◽  
M.C. Janssen ◽  
...  
Keyword(s):  
Female Patient ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Embolization of Life-Threatening Arterial Rupture in Patients with Vascular Ehlers–Danlos Syndrome

2013 ◽  
Vol 37 (1) ◽  
pp. 77-84 ◽  
Author(s):  
Takuya Okada ◽  
Michael Frank ◽  
Olivier Pellerin ◽  
Massimiliano Di Primio ◽  
Georgios Angelopoulos ◽  
...  
Keyword(s):  
Ehlers Danlos Syndrome ◽  
Arterial Rupture ◽  
Life Threatening ◽  
Danlos Syndrome

scholarly journals Apparently Minor Head Trauma Can Lead to Anosmia: A Case Report

ORL ◽  
2020 ◽  
pp. 1-5
Author(s):  
Yunpeng Zang ◽  
Antje Hähner ◽  
Simona Negoias ◽  
Theresa Lakner ◽  
Thomas Hummel
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Female Patient ◽  
Head Trauma ◽  
Minor Head Trauma ◽  
Resonance Imaging ◽  
Mri Scan ◽  
Accompanying Symptoms ◽  
The Right

We report the case of a 49-year-old female patient who suffered from anosmia following an apparently mild head trauma when bumping into a door at her home. She reported no other accompanying symptoms after the injury that day. Olfactory function was completely lost, which was noted the day after the trauma. Gustatory function remained normal. Magnetic resonance imaging indicated lesions/bleeding in the right frontal lobe and in the area of the olfactory sulcus/bulb. The present case indicates that in case of apparently mild head trauma with anosmia, an MRI scan of the head should be performed because of suspect brain damage. This case also points to the deeper question how to gauge severity of head trauma.

scholarly journals Upper airway obstruction in a patient with Ehlers–Danlos syndrome

2015 ◽  
Vol 97 (3) ◽  
pp. e50-e51
Author(s):  
D Chatzoudis ◽  
TJ Kelly ◽  
J Lancaster ◽  
TM Jones
Keyword(s):  
Airway Obstruction ◽  
Conservative Management ◽  
Management Strategy ◽  
Soft Tissues ◽  
Upper Airway ◽  
Upper Airway Obstruction ◽  
Ehlers Danlos Syndrome ◽  
Recent Onset ◽  
Life Threatening ◽  
Danlos Syndrome

We report a case of recurrent airway obstruction episodes resulting from laryngeal hypermobility in a patient with Ehlers–Danlos syndrome. A 44-year-old woman, with known Ehlers–Danlos syndrome, presented with recent onset of episodes of upper airway obstruction due to hypermobility of her larynx. A suitable conservative management strategy proved elusive and the patient finally underwent a thyrohyoidopexy. The patient remains symptom free nine months after the procedure. This is the first report of spontaneous life threatening upper airway obstruction due to hypermobility of the suprahyoid suspensory soft tissues in Ehlers–Danlos syndrome.

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