Proteus syndrome: Rare cause of life-threatening haematuria

2021 ◽  
pp. 205141582110029
Author(s):  
Jeff John ◽  
Vishesh Sood ◽  
Ken Kesner ◽  
Sunil Sinha
Keyword(s):  
Vascular Malformations ◽  
Bladder Wall ◽  
Haemorrhagic Shock ◽  
Proteus Syndrome ◽  
Intravenous Fluids ◽  
Acute Management ◽  
Emergency Unit ◽  
Bony Tissue ◽  
Genitourinary System ◽  
Life Threatening

Proteus syndrome is an extremely rare sporadic hamartomatous condition characterized by random overgrowth of connective, epidermal and bony tissue. Involvement of the genitourinary system in PS is extremely rare and if present, are usually caused by enlarging cysts or neoplasms. Infrequent reports of testicular, renal and bladder involvement have been reported. The involvement of the bladder is predominantly due to vascular malformations with only three previous cases reported in literature. We report the fourth case – one of a 14-year-old male with known Proteus syndrome that presented to the emergency unit with life threatening haematuria. He appeared acutely ill in haemorrhagic shock with a haemoglobin of 4.3 g/dL on index presentation. Initial acute management involved aggressive resuscitation of the patient with intravenous fluids and blood transfusion. Cystoscopy revealed an actively-bleeding extensive venous anomalies of the bladder wall that were successfully-sealed with electrocautery.

Diving Accident Evacuations by Helicopter and Immersion Pulmonary Edema

2020 ◽  
Vol 91 (10) ◽  
pp. 806-811
Author(s):  
Laëtitia Corgie ◽  
Nicolas Huiban ◽  
Jean-Michel Pontier ◽  
François-Xavier Brocq ◽  
Jean-François Boulard ◽  
...  
Keyword(s):  
Pulmonary Edema ◽  
Decompression Sickness ◽  
Mediterranean Coast ◽  
Military Hospital ◽  
Emergency Unit ◽  
Diving Accident ◽  
Landing Zone ◽  
Diving Accidents ◽  
Non Invasive Ventilation ◽  
Life Threatening

BACKGROUND: Scuba diving activities expose divers to serious accidents, which can require early hospitalization. Helicopters are used for early evacuation. On the French Mediterranean coast, rescue is made offshore mainly by a French Navy Dauphin or at a landing zone by an emergency unit EC 135 helicopter.METHODS: We retrospectively analyzed diving accidents evacuated by helicopter on the French Mediterranean coast from 1 September 2014 to 31 August 2016. We gathered data at the Center for Hyperbaric Medicine and Diving Expertise (SMHEP) of the Sainte-Anne Military Hospital (Toulon, France), the 35 F squadron at Hyres (France) Naval Air Station, and the SAMU 83 emergency unit (Toulon, France).RESULTS: A total of 23 diving accidents were evacuated offshore by Dauphin helicopter and 23 at a landing zone on the coast by EC 135 helicopter without hoist. Immersion pulmonary edema (IPE) accounted for one-third of the total diving accidents evacuated by helicopter with identified causes. It was responsible for at least half of the deaths at the dive place. A quarter of the rescued IPE victims died because of early cardiac arrest.DISCUSSION: Helicopter evacuation is indicated when vital prognosis (IPE and pulmonary overpressure in particular) or neurological functional prognosis (decompression sickness) is of concern. IPE is the primary etiology in patients with serious dive injuries that are life-threatening and who will benefit from helicopter evacuation. A non-invasive ventilation device with inspiratory support and positive expiratory pressure must be used, in particular for IPE.Corgie L, Huiban N, Pontier J-M, Brocq F-X, Boulard J-F, Monteil M. Diving accident evacuations by helicopter and immersion pulmonary edema. Aerosp Med Hum Perform. 2020; 91(10):806811.

scholarly journals Esthetic and Functional Improvement of Asymmetric Lower Limb Overgrowth in a Proteus Syndrome Patient: a Combined Surgical Technique

2021 ◽  
Author(s):  
Francesca Riccardi ◽  
Simone Catapano ◽  
Giuseppe Cottone ◽  
Dino Zilio ◽  
Luca Vaienti
Keyword(s):  
Adipose Tissue ◽  
Lower Limb ◽  
Vascular Malformations ◽  
Functional Improvement ◽  
Proteus Syndrome ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Genetic Mosaicism ◽  
Phosphoinositide 3 Kinase ◽  
The Right

AbstractProteus syndrome is a rare, sporadic, congenital syndrome that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal nevi, alteration of adipose tissue, and vascular malformations. Genetic mosaicism, such as activating mutations involving protein kinase AKT1, phosphoinositide 3 kinase (PI3-K), and phosphatase and tensin homolog (PTEN), may be important causes of Proteus syndrome. However, many patients have no evidence of mutations in these genes. Currently, the diagnosis is clinical and based on phenotypic features. This article reports a case of Proteus syndrome in a 14-year-old female patient who presented with linear epidermal nevi, viscera anomalies, and adipose tissue dysregulation. She showed an asymmetric progressive overgrowth of the right lower limb after birth bringing relevant functional and esthetic consequences. Therefore, she asked a plastic surgery consultation and a surgical treatment with a combined technique was planned. With our approach, we were able to reduce leg diameter and improve joint mobility reliably and safely with satisfying esthetic results.

scholarly journals Multidisciplinary management of the pregnant patient in haemorrhagic shock secondary to an undiagnosed ruptured liver adenoma

2020 ◽  
Vol 13 (2) ◽  
pp. e231995
Author(s):  
Brittany Sanford ◽  
Catherine Hoeppner ◽  
Tammy Ju ◽  
Brian K Theisen ◽  
Anna BuAbbud ◽  
...  
Keyword(s):  
General Surgery ◽  
Case Reports ◽  
Hepatocellular Adenoma ◽  
Multidisciplinary Care ◽  
Exploratory Laparotomy ◽  
Pregnant Patient ◽  
Haemorrhagic Shock ◽  
Liver Adenoma ◽  
Life Threatening ◽  
Temporary Closure

Management of a ruptured hepatocellular adenoma during pregnancy is a rare and potentially life-threatening entity. Few case reports have described management of the pregnant patient who presents in haemorrhagic shock secondary to a ruptured liver adenoma. A 30-year-old primigravid woman at 31 weeks pregnant presented with abdominal pain and fetal bradycardia. After stat caesarean delivery of the infant, she had continued hemoperitoneum and was in shock secondary to an undiagnosed ruptured liver mass. General surgery was consulted intraoperatively and performed an exploratory laparotomy, packing and temporary closure. She was subsequently taken to interventional radiology (IR) for angioembolisation of the left hepatic artery. After stabilisation, she underwent formal abdominal closure. Management of a ruptured hepatocellular adenoma in pregnancy requires urgent multidisciplinary care including obstetrics gynaecology, general surgery and IR.

scholarly journals Neuroleptic malignant syndrome following catatonia: Vigilance is the price of antipsychotic prescription

2017 ◽  
Vol 5 ◽  
pp. 2050313X1769599 ◽  
Author(s):  
Thomas J Reilly ◽  
Sean Cross ◽  
David M Taylor ◽  
Richard Haslam ◽  
Sophie C Tomlin ◽  
...  
Keyword(s):  
Adverse Effect ◽  
Adverse Drug Reaction ◽  
Pulmonary Embolism ◽  
Neuroleptic Malignant Syndrome ◽  
Kidney Injury ◽  
Clinical Suspicion ◽  
Antipsychotic Treatment ◽  
High Dose ◽  
Intravenous Fluids ◽  
Life Threatening

Objectives: To describe a case of neuroleptic malignant syndrome following antipsychotic treatment of catatonia, highlighting the potentially serious complications of this rare adverse drug reaction. Methods: We present a case report of a patient who developed this syndrome with various sequelae. Results: The patient developed neuroleptic after being treated with lorazepam and olanzapine for catatonia. He subsequently developed the complications of rhabdomyolysis, acute kidney injury, pulmonary embolism, urinary retention and ileus. He received high-dose lorazepam, anticoagulation and intravenous fluids. Antipsychotic medication in the form of haloperidol was reinstated with no adverse effect, and he went on to make a full recovery. Conclusions: This case illustrates the potential life-threatening complications of neuroleptic malignant syndrome and the need for a low index of clinical suspicion. It also highlights the lack of evidence for treatment of catatonia, including the use of antipsychotics.

Hypotension

2018 ◽  
pp. 163-167
Author(s):  
Angela Creditt
Keyword(s):  
Septic Shock ◽  
Severe Sepsis ◽  
Organ Failure ◽  
Broad Spectrum ◽  
Signs And Symptoms ◽  
Intravenous Fluids ◽  
Key Points ◽  
Life Threatening ◽  
New Guidelines ◽  
Sepsis And Septic Shock

Sepsis is a complex and potentially life-threatening sequela of infection that commonly occurs and can be difficult to identify. If unrecognized or undertreated, sepsis can progress to severe sepsis, septic shock, characterized by hypotension and multisystem organ failure, and ultimately death. This case illustrates classic signs and symptoms of sepsis and septic shock in a postoperative patient. Recognizing these symptoms, rapidly initiating resuscitation with intravenous fluids and broad-spectrum antibiotics and aggressive management of these patients is imperative to prevent further decompensation. In 2017, the Surviving Sepsis campaign published new guidelines to assist with the management of patients with sepsis and septic shock. Key points from these guidelines will be highlighted within this case.

scholarly journals A mouse model of Proteus syndrome

2019 ◽  
Vol 28 (17) ◽  
pp. 2920-2936 ◽  
Author(s):  
Marjorie J Lindhurst ◽  
Lauren R Brinster ◽  
Hannah C Kondolf ◽  
Jasmine J Shwetar ◽  
Miranda R Yourick ◽  
...  
Keyword(s):  
Fluorescent Protein ◽  
Vascular Malformations ◽  
Mammary Epithelium ◽  
Benign Tumors ◽  
Proteus Syndrome ◽  
Mosaic Expression ◽  
Mammary Hyperplasia ◽  
Frequent Finding ◽  
Human Disorder ◽  
Green Fluorescent

Abstract Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p.(E17K) in AKT1. The presentation in affected individuals is variable, with a diversity of tissues demonstrating abnormalities. Common manifestations include skin and bony overgrowth, vascular malformations (VMs), cysts and benign tumors. We used two methods to create mouse models that had endogenously-regulated mosaic expression of the Proteus syndrome variant. Variant allele fractions (VAFs) ranged from 0% to 50% across numerous tissues in 44 Proteus syndrome mice. Mice were phenotypically heterogeneous with lesions rarely observed before 12 months of age. VMs were the most frequent finding with a total of 69 found in 29 of 44 Proteus syndrome mice. Twenty-eight cysts and ectasia, frequently biliary, were seen in 22 of 44 Proteus syndrome mice. Varying levels of mammary hyperplasia were seen in 10 of 16 female Proteus syndrome mice with other localized regions of hyperplasia and stromal expansion noted in several additional animals. Interestingly, 27 of 31 Proteus syndrome animals had non-zero blood VAF that is in contrast to the human disorder where it is rarely seen in peripheral blood. Identification of variant-positive cells by green fluorescent protein (GFP) staining in chimeric Proteus syndrome mice showed that in some lesions, hyperplastic cells were predominantly GFP/Akt1E17K-positive and showed increased pAKT signal compared to GFP-negative cells. However, hyperplastic mammary epithelium was a mixture of GFP/Akt1E17K-positive and negative cells with some GFP/Akt1E17K-negative cells also having increased pAKT signal suggesting that the variant-positive cells can induce lesion formation in a non-cell autonomous manner.

Acute Management of Intracranial Hemorrhage in Patients Receiving Thrombolytic Therapy: Case Reports

Neurosurgery ◽  
1990 ◽  
Vol 26 (5) ◽  
pp. 867-869 ◽  
Author(s):  
Scott M. Eleff ◽  
Cecil Borel ◽  
William R. Bell ◽  
Donlin M. Long
Keyword(s):  
Early Diagnosis ◽  
Thrombolytic Therapy ◽  
Intracranial Hemorrhage ◽  
Antithrombotic Therapy ◽  
Perioperative Management ◽  
Case Reports ◽  
Acute Management ◽  
Anticoagulant Treatment ◽  
Life Threatening ◽  
Uncommon Complication

Abstract Intracranial hemorrhage is an uncommon complication of antithrombotic therapy. We present two patients who suffered life-threatening intracranial bleeding as a complication of thrombolytic/anticoagulant treatment. Early diagnosis and treatment appear to be crucial factors for survival. We suggest an approach to perioperative management for intracranial hemorrhage resulting from antithrombotic therapy.

Evaluation of a Simplified Index of Initial Prognosis in Polytrauma

1987 ◽  
Vol 3 (1) ◽  
pp. 7-9
Author(s):  
Philippe Scherpereel ◽  
Jean-Pierre Vandenameele ◽  
Daniel Hochart ◽  
Jean-Claude Marson ◽  
Patrick Goldstein
Keyword(s):  
Emergency Care ◽  
Injury Severity ◽  
Severity Index ◽  
Spinal Trauma ◽  
Initial Assessment ◽  
Emergency Unit ◽  
Severity Scale ◽  
Injury Score ◽  
Reliable Tool ◽  
Life Threatening

Three hundred cases of polytrauma were investigated to evaluate the reliability of the Lindsey severity index. This simplified injury score can be used by paramedics or low-skilled emergency practioners to obtain a correct screening of patients and an initial prognosis on the basis of a simple injury severity scale. An evaluation by the Lindsey index was done in the field and at the emergency care unit. Results compare the final status of the patient which was obtained using the Patel score, derived from the patient's chart after his discharge. The Lindsey index demonstrated a correct assessment of the patient's status in 60% of the cases at the scene of the accident and 77% in the emergency unit. Most of the errors were due to underevaluations of the skull and spinal trauma. Patel's scale emphasizes locomotor sequellae, while skeletal injuries seldom provide life-threatening events, widely considered in the Lindsey index. Lindsey's index is a simple and reliable tool for initial assessment and a useful method of teaching.

scholarly journals Uterine Rupture with Massive Late Postpartum Hemorrhage due to Placenta Percreta Left Partially In Situ

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Mehmet Coskun Salman ◽  
Pinar Calis ◽  
Ozgur Deren
Keyword(s):  
Uterine Rupture ◽  
Bladder Wall ◽  
Placental Tissue ◽  
Total Abdominal Hysterectomy ◽  
Abdominal Hysterectomy ◽  
Uterine Wall ◽  
Placenta Percreta ◽  
Emergency Laparotomy ◽  
Life Threatening

Placental adhesive disorders involve the growth of placental tissue into or through the uterine wall. Among these disorders, placenta percreta is the rarest one. However, it may cause significant complications. This report aimed to report a neglected patient with placenta percreta who developed uterine rupture with life-threatening late postpartum intra-abdominal hemorrhage. On admission, the patient had acute abdomen with moderate abdominal distention and was subjected to emergency laparotomy. A full-thickness defect of the anterior uterine wall involving the hysterotomy site was seen. Placental tissues occupied both sides of the incision and posterior bladder wall was also invaded by placenta. Total abdominal hysterectomy with partial resection of the posterior bladder wall was performed.

Sign in / Sign up

Export Citation Format

Share Document