Muscle injury induced beneath and distal to a pneumatic tourniquet: a quantitative animal study of effects of tourniquet pressure and duration.

Science.gov (United States)

Pedowitz, R A; Gershuni, D H; Schmidt, A H; Fridén, J; Rydevik, B L; Hargens, A R

1991-07-01

Previous recommendations regarding the "safe" period of tourniquet hemostasis were based largely on studies of ischemia distal to the tourniquet. This study quantitatively analyzed skeletal muscle injury induced beneath and distal to a pneumatic tourniquet applied to the hindlimbs of rabbits for 1, 2, or 4 hours with a cuff inflation pressure of 125, 200, or 350 mm Hg. Technetium Tc 99m pyrophosphate incorporation after systemic injection (Tc 99 uptake) and correlative histology were used to evaluate tissue damage 2 days after tourniquet application. Compared with the contralateral control limbs, compression and ischemia induced statistically significant increases in Tc 99 uptake in the thigh and leg regions of all groups. Pyrophosphate incorporation was significantly greater in the thigh region than in the leg region after 2 hours of compression in the 200 and 350 mm Hg pressure groups and following 4 hours of compression in all pressure groups. Focal and regional fiber necrosis and degeneration were observed in thigh muscles after 2 hours of tourniquet compression. Two hours of continuous tourniquet application at clinically relevant cuff inflation pressures induced significant skeletal muscle necrosis beneath the tourniquet. Use of the lowest possible inflation pressure for a limited duration should minimize the degree of tissue injury caused by tourniquet application.

Muscle injury induced beneath and distal to a pneumatic tourniquet: A quantitative animal study of effects of tourniquet pressure and duration

International Nuclear Information System (INIS)

Pedowitz, R.A.; Gershuni, D.H.; Schmidt, A.H.; Friden, J.; Rydevik, B.L.; Hargens, A.R.

1991-01-01

Previous recommendations regarding the safe period of tourniquet hemostasis were based largely on studies of ischemia distal to the tourniquet. This study quantitatively analyzed skeletal muscle injury induced beneath and distal to a pneumatic tourniquet applied to the hindlimbs of rabbits for 1, 2, or 4 hours with a cuff inflation pressure of 125, 200, or 350 mm Hg. Technetium Tc 99m pyrophosphate incorporation after systemic injection (Tc 99 uptake) and correlative histology were used to evaluate tissue damage 2 days after tourniquet application. Compared with the contralateral control limbs, compression and ischemia induced statistically significant increases in Tc 99 uptake in the thigh and leg regions of all groups. Pyrophosphate incorporation was significantly greater in the thigh region than in the leg region after 2 hours of compression in the 200 and 350 mm Hg pressure groups and following 4 hours of compression in all pressure groups. Focal and regional fiber necrosis and degeneration were observed in thigh muscles after 2 hours of tourniquet compression. Two hours of continuous tourniquet application at clinically relevant cuff inflation pressures induced significant skeletal muscle necrosis beneath the tourniquet. Use of the lowest possible inflation pressure for a limited duration should minimize the degree of tissue injury caused by tourniquet application

Methicillin resistant Staphylococcus aureus contamination of phlebotomy tourniquets and faucets

Science.gov (United States)

Abeywickrama, T; Amarasinghe, K; Wijerathne, S; Dharmaratne, C; Fernando, D; Senaratna, B C; Gunasekera, H A K M

2018-03-31

Methicillin resistant Staphylococcus aureus (MRSA) is transmitted through direct contact or fomites. The most important means of nosocomial spread is by hospital personnel. However, fomites are being increasingly recognized as sources of nosocomial infection. Our aim was to describe the MRSA contamination rate of phlebotomy tourniquets and faucets in a tertiary care hospital and to compare the contamination of plastic tourniquets with that of fabric tourniquets. A cross-sectional study was carried out in the general wards of a tertiary care hospital in the Colombo District. Two hundred tourniquets were collected and 100 faucets were swabbed and cultured on CHROMagar™ MRSA medium (CHROMagar Microbiology). Contamination rates of 50 plastic tourniquets and 50 fabric tourniquets were compared. MRSA grew in 26% of tourniquets. Majority were plastic tubes. MRSA contamination of tourniquets did not significantly differ by ward (p>0.4). MRSA was found on 26% of faucets. Contamination rate was highest in the common wards for dermatology, dental, rheumatology, and neurology (55.6%), followed by gynaecology (45.2%), cardiology (33.3%), surgery (18.8%), psychiatry (11.1%), and medicine (5.6%). There was a significant difference in rates of contamination of faucets in the different wards (pcontamination rates of tourniquets and faucets were high. Single-use plastic tourniquets were much less contaminated with MRSA than reused tourniquets.

Tourniquet-induced systemic inflammatory response in extremity surgery.

LENUS (Irish Health Repository)

Wakai, A

2012-02-03

BACKGROUND: Tourniquet-induced reperfusion injury in animals produces significant systemic inflammatory effects. This study investigated whether a biologic response occurs in a clinically relevant model of tourniquet-induced reperfusion injury. METHODS: Patients undergoing elective knee arthroscopy were prospectively randomized into controls (no tourniquet) and subjects (tourniquet-controlled). The effects of tourniquet-induced reperfusion on monocyte activation state, neutrophil activation state, and transendothelial migration (TEM) were studied. Changes in the cytokines implicated in reperfusion injury, tumor necrosis factor-alpha, interleukin (IL)-1beta, and IL-10 were also determined. RESULTS: After 15 minutes of reperfusion, neutrophil and monocyte activation were significantly increased. Pretreatment of neutrophils with pooled subject (ischemia-primed) plasma significantly increased TEM. In contrast, TEM was not significantly altered by ischemia-primed plasma pretreatment of the endothelial monolayer. Significant elevation of tumor necrosis factor-alpha and IL-1beta were observed in subjects compared with controls after 15 minutes of reperfusion. There was no significant difference in serum IL-10 levels between the groups at all the time points studied. CONCLUSION: These results indicate a transient neutrophil and monocyte activation after tourniquet-ischemia that translates into enhanced neutrophil transendothelial migration with potential for tissue injury.

The Valsalva manoeuvre versus tourniquet for venipuncture.

Science.gov (United States)

Villa, Gianluca; Chelazzi, Cosimo; Giua, Rosa; Lavacchini, Laura; Tofani, Lorenzo; Zagli, Giovanni; Barbani, Francesco; De Gaudio, A Raffaele; Romagnoli, Stefano; Pinelli, Fulvio

2018-03-01

During ultrasound-guided cannulation, venous filling is required for venipuncture. Tourniquet with an elastic tube at the axilla is the most common method to induce venous stasis for cannulation of the deep veins of the arm. Although effective, this method might be associated with short- and long-term complications. Valsalva manoeuvre has been used to produce venous filling in other extrathoracic veins. The aim of this observational study is to demonstrate the effect of Valsalva manoeuvre in respect of the elastic tourniquet on venous distention during echography-guided cannulation of the deep veins of the arm. Sixty-nine patients scheduled for cannulation of basilic or brachial vein were prospectively observed. Vein diameters were recorded at rest and after 10 s of Valsalva or tourniquet placement. The mean difference between basilic vein diameters during tourniquet and Valsalva manoeuvre was 0.006 mm (95% confidence interval = -inf, 0.09) with a standard deviation of 0.5 mm (95% confidence interval = 0.5, 0.7; p > 0.01). The mean difference between brachial vein diameters during tourniquet and Valsalva manoeuvre was 0.04 mm (95% confidence interval = -0.23, 0.15) with a standard deviation of 0.8 mm (95% confidence interval = 0.7, 0.9; p > 0.01). This increase in cross-sectional basilic and brachial vein diameters was not different to that obtained with the elastic tube tourniquet.

Effect of pneumatic tourniquet on muscle oxygen tension.

Science.gov (United States)

Santavirta, S; Höckerstedt, K; Niinikoski, J

1978-10-01

Recent investigations suggest that circulation in a limb can be reduced with a tourniquet to less than 1 per cent of the control limb, or even completely occluded. The development of tissue oxygen tonometry with implanted silastic tubes has provided new possibilities for assessing muscle tissue oxygen tension. In the present work, this method was employed to register the effect of tourniquet blackade on the lower limb muscle PO2 in rabbits. The duration of the tourniquet blockade was 60, 120 and 180 minutes. The baseline muscle PO2 in the tibialis anterior muscle was 22.6 +/- 0.6 mmHg. During the tourniquet blockade the oxygen tension dropped to minimal values between 9.2 +/- 0.5 and 10.7 +/- 0.6 mmHg in these experimental groups, but the tissue microclimate never reached fully anoxic conditions. The rapid response of muscle PO2 to oxygen breathing after release of the blockade suggests that limb microcirculation tolerates tourniquet occlusion well.

Acute pulmonary edema following inflation of arterial tourniquet.

Science.gov (United States)

Santhosh, M C B; Pai, R B; Rao, R P

2014-10-01

Arterial tourniquets are used as one of the methods for reducing blood loss and for allowing blood free surgical field. A 20-year-old, 45 kg healthy female with a sphere shaped pendunculated hemangioma in the popliteal fossa of her left lower limb was applied with arterial tourniquet after exsanguination. The procedure was performed under general anesthesia. Soon after exsanguination and tourniquet inflation, the patient developed pulmonary edema which subsided after deflating the tourniquet. The clinical evolution, treatment and pathophysiology of this complication are described. Copyright © 2013 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

Compartment syndrome of the thigh complicating surgical treatment of ipsilateral femur and ankle fractures

Science.gov (United States)

Moore, M. R.; Garfin, S. R.; Hargens, A. R.

1987-01-01

A 26-year-old man presented with ipsilateral femur and ankle fractures. The patient was treated with interlocking nail of his femur fracture, followed by open reduction and internal fixation of his ankle fracture under tourniquet control. Postoperatively, the patient developed compartment syndrome of his thigh with elevated pressures, requiring decompressive fasciotomies. This case illustrates the possible complication of treating a femur fracture with intramedullary nailing and then immediately applying a tourniquet to treat an ipsilateral extremity fracture. Because of the complication with this patient, we feel the procedure should be staged, or a tourniquet should be avoided if possible.

The effect of pneumatic tourniquets on skeletal muscle physiology.

Science.gov (United States)

Patterson, S; Klenerman, L; Biswas, M; Rhodes, A

1981-01-01

The effect of 3- and 5-hour pneumatic tourniquets on skeletal muscle physiology was investigated. Maximum isometric tension development, contraction and half relaxation times were measured in the muscles lying immediately under and distal to the tourniquet. On release of the tourniquet no consistent difference between control and experimental muscles was observed with respect to contraction and half relaxation times; however, there was a marked reduction in maximum isometric tension development. On the sixth day after release of a 5-hour tourniquet, isometric tension was reduced to 2--20 per cent of the control value in the distal muscle and to 40--60 per cent of the control value in the compressed muscle. Six days after a 3-hour tourniquet the compressed muscle tension was reduced to approximately 80 per cent of the control value whilst in the distal muscle, tension development varied from normal to 64 per cent of the control value. Thus it is shown that the effect on muscle contraction after a 3-hour tourniquet is not immediately reversed by the restoration of the blood supply. A reduction in muscle strength follows which may take a week or more to recover.

The pathophysiology of the arterial tourniquet: a review

African Journals Online (AJOL)

QuickSilver

2003-05-08

May 8, 2003 ... Antioxidant mechanisms provide protection. e.g. intact red cells scavenge ... from the movement of a fully inflated tourniquet over bare skin. HAEMATOMAS/ ... layed by the application of EMLA cream to the tourniquet site.

Evaluation of Models of Pneumatic Tourniquet in Simulated Out-of-Hospital Use.

Science.gov (United States)

Kragh, John F; Aden, James K; Dubick, Michael A

2016-01-01

Pneumatic field tourniquets have been recommended for Military medics to stop bleeding from limb wounds, but no comparison of commercially available pneumatic models of tourniquet has been reported. The purpose of this study is to provide laboratory data on the differential performance of models of pneumatic tourniquets to inform decision-making of potential field assessment by military users. Models included the Emergency and Military Tourniquet (EMT), Tactical Pneumatic Tourniquet 2-inch (TPT2), and Tactical Pneumatic Tourniquet 3-inch (TPT3). One user tested the three tourniquet models 30 times each on a manikin to collect data on effectiveness (yes-no bleeding control), pulse cessation, time to stop bleeding, total time of application, after time (after bleeding was stopped), pressure applied, blood loss volume, composite outcome (whether all individual outcomes were good or not), and pump count of the bulb used to inflate the tourniquet. Neither tourniquet effectiveness nor pulse cessation (ρ = 1; likelihood ratio, 0 for both) differed among tourniquet models: all three models had 100% (30 of 30 tests) for both outcomes. The EMT had the best or tied for best performance in time to stop bleeding, total time, after time, pressure blood loss, composite outcome, and pump count. Each of the three models of pneumatic field tourniquet was 100% effective in stopping simulated bleeding. Among the three models, the EMT showed the best or tied for best performance in time to stop bleeding, blood loss, and composite outcomes. All models are suitable for future field assessment among military users. 2016.

To compare methods used in our operating room for alleviating tourniquet pain

International Nuclear Information System (INIS)

Ali, M. A.; Siddiqui, S.

2013-01-01

Objective: To compare the efficacy of different methods used to alleviate tourniquet pain in operating rooms as well as assess their effect on post-operative pain. Methods: The study was conducted at the Aga Khan University Hospital, Karachi from June to August 2010. All patients who came for elective orthopaedic surgery in whom a tourniquet application was planned were included in the study. Information was collected through a pre-designed data form. Qualitative data was expressed as mean standard deviation, while qualitative data was presented as frequency and percentage. Results: In the 106 patients studied, opioids were administered in 90 (85%) cases, paracetamol in 73 (69%) and non-steroidal anti-inflammatory drugs in 11 (10.4%) cases. Efficacy was determined by means of the effect on the blood pressure and heart rate of the patient before and after the drug administration. Intravenous paracetamol was found to be the most effective in reducing both blood pressure and heart rate (p<0.001). The effect on post-operative pain was insignificant. Conclusions: Intravenous paracetamol is a cost-effective and safe analgesic, especially when combined with a multi-modal regimen, and has potential effect on the alleviation of tourniquet pain. (author)

The influence of tourniquet use and operative time on the incidence of deep vein thrombosis in total knee arthroplasty.

Science.gov (United States)

Hernandez, Arnaldo José; Almeida, Adriano Marques de; Fávaro, Edmar; Sguizzato, Guilherme Turola

2012-09-01

To evaluate the association between tourniquet and total operative time during total knee arthroplasty and the occurrence of deep vein thrombosis. Seventy-eight consecutive patients from our institution underwent cemented total knee arthroplasty for degenerative knee disorders. The pneumatic tourniquet time and total operative time were recorded in minutes. Four categories were established for total tourniquet time: 120 minutes. Three categories were defined for operative time: 150 minutes. Between 7 and 12 days after surgery, the patients underwent ascending venography to evaluate the presence of distal or proximal deep vein thrombosis. We evaluated the association between the tourniquet time and total operative time and the occurrence of deep vein thrombosis after total knee arthroplasty. In total, 33 cases (42.3%) were positive for deep vein thrombosis; 13 (16.7%) cases involved the proximal type. We found no statistically significant difference in tourniquet time or operative time between patients with or without deep vein thrombosis. We did observe a higher frequency of proximal deep vein thrombosis in patients who underwent surgery lasting longer than 120 minutes. The mean total operative time was also higher in patients with proximal deep vein thrombosis. The tourniquet time did not significantly differ in these patients. We concluded that surgery lasting longer than 120 minutes increases the risk of proximal deep vein thrombosis.

A maneuver for improved positioning of a tourniquet in the obese patient.

Science.gov (United States)

Krackow, K A

1982-08-01

Proximal positioning of an arterial tourniquet will be greatly facilitated by having an assistant firmly draw the skin and subcutaneous tissue distally prior to positioning the cast padding and tourniquet. This simple maneuver is clearly not part of current practice or training, despite the simplicity and effectiveness. Excessive tourniquet tightening should be avoided prior to fixing the Velcro fasteners, a practice which is commonly employed and is not only ineffective in maintaining proximal tourniquet positioning, but also deleterious in that it creates a "venous tourniquet" effect. Loosening of the restraining adhesive tapes and unnecessary traction of adhesive tape on sensitive skin can be avoided by bringing the extremity to its resting position before fastening the tape proximal to the tourniquet.

Effectiveness of Pulse Oximetry Versus Doppler for Tourniquet Monitoring.

Science.gov (United States)

Wall, Piper L; Buising, Charisse M; Grulke, Lisa; Troester, Alexander; Bianchina, Nicholas; White, Shannon; Freymark, Rosemarie; Hassan, Ali; Hopkins, James W; Renner, Catherine Hackett; Sahr, Sheryl M

Pulse oximeters are common and include arterial pulse detection as part of their methodology. The authors investigated the possible usefulness of pulse oximeters for monitoring extremity tourniquet arterial occlusion. Tactical Ratcheting Medical Tourniquets were tightened to the least Doppler-determined occluding pressure at mid-thigh or mid-arm locations on one limb at a time on all four limbs of 15 volunteers. A randomized block design was used to determine the placement locations of three pulse oximeter sensors on the relevant digits. The times and pressures of pulsatile signal absences and returns were recorded for 200 seconds, with the tourniquet being tightened only when the Doppler ultrasound and all three pulse oximeters had pulsatile signals present (pulsatile waveform traces for the pulse oximeters). From the first Doppler signal absence to tourniquet release, toe-located pulse oximeters missed Doppler signal presence 41% to 50% of the times (discrete 1-second intervals) and missed 39% to 49% of the pressure points (discrete 1mmHg intervals); fingerlocated pulse oximeters had miss rates of 11% to 15% of the times and 13% to 19% of the pressure points. On toes, the pulse oximeter ranges of sensitivity and specificity for Doppler pulse detection were 71% to 90% and 44% to 51%, and on fingers, the respective ranges were 65% to 77% and 78% to 83%. Use of a pulse oximeter to monitor limb tourniquet effectiveness will result in some instances of an undetected weak arterial pulse being present. If a pulse oximeter waveform is obtained from a location distal to a tourniquet, the tourniquet should be tightened. If a pulsatile waveform is not detected, vigilance should be maintained. 2017.

Pulmonary gas exchange impairment following tourniquet deflation: a prospective, single-blind clinical trial.

Science.gov (United States)

Lin, Lina; Wang, Liangrong; Bai, Yu; Zheng, Liupu; Zhao, Xiyue; Xiong, Xiangqing; Jin, Lida; Ji, Wei; Wang, Wantie

2010-06-09

The tourniquet has been considered as a recognized cause of limb ischemia/reperfusion injury in orthopedic surgery resulting in a transient neutrophil, monocyte activation, and enhanced neutrophil transendothelial migration with potential remote tissue injury. This study investigated the effect of unilateral tourniquet application within a safe time limit on pulmonary function and the roles of lipid peroxidation and systemic inflammatory response. Thirty patients undergoing unilateral lower extremity surgery with or without tourniquet were equally divided into a control group with no tourniquet (Group C) and a tourniquet (Group T). Arterial partial pressure of oxygen (P(a)O(2)), arterial-alveolar oxygen tension ratio (a/A ratio), alveolar-arterial oxygen difference (A-aDO(2)) and respiratory index, plasma malondialdehyde, serum interleukin (IL) -6 and IL-8 levels were measured immediately before and 1 hour after tourniquet inflation/operation beginning, 0.5, 2, 6, and 24 hours after tourniquet deflation/operation ending. The results represented no significant changes in Group C with regard to either blood gas variables or levels of circulating mediators, while blood gas variable changes of greater A-aDO(2) and respiratory index and lower PaO2 and a/A ratio were shown at 6 hours following tourniquet deflation. The levels of malondialdehyde, IL-6, and IL-8 were increased over baseline values from 2 to 24 hours following tourniquet deflation in Group T. We concluded that tourniquet application within a safe time limit may cause pulmonary gas exchange impairment several hours after tourniquet deflation, where lipid peroxidation and systemic inflammatory response may be involved. Copyright 2010, SLACK Incorporated.

The effect of pneumatic tourniquets on the ultrastructure of skeletal muscle.

Science.gov (United States)

Patterson, S; Klenerman, L

1979-05-01

Experiments have been carried out on rhesus monkeys to determine the effect of the application of a pneumatic tourniquet on the ultrastructure of the muscles of the lower limb. Tourniquets were applied for periods lasting between one and five hours. The changes in the muscle lying immediately under the cuff of the tourniquet were more marked than those observed in muscle distal to the cuff. Three hours appears to be close to the limit of the time that a muscle can resist the sustained compression of a tourniquet.

Intra-operative pneumatic tourniquet - perceptions of use and ...

African Journals Online (AJOL)

Fifty-four per cent of respondents personally checked the calibration of the pneumatic tourniquet, although 76% of respondents believe that the apparatus needs to be checked at least once per month. More respondents who did not check the tourniquet apparatus than respondents who did check it believe that applied ...

Tourniquet use during ankle surgery leads to increased postoperative opioid use

DEFF Research Database (Denmark)

Kruse, Heidi; Christensen, Kristian P; Møller, Ann M

2015-01-01

STUDY OBJECTIVE: Ankle surgery is often done using a tourniquet. Ischemia/reperfusion injury caused by the tourniquet may increase postoperative pain. The study objective was to investigate the amount of opioids given to patients after ankle surgery with and without tourniquet. DESIGN: We did...... a cohort study based on data from patient's records between January 2008 and December 2011. SETTING: Information is gathered from operating room, postanesthetic care unit, and surgical ward in a university hospital. PATIENTS: We identified patients undergoing reconstructive ankle fracture surgery from...... outcome. MAIN RESULTS: Three hundred fifty-eight patients underwent surgery with tourniquet. There was a correlation between tourniquet time and postoperative opioid use (P value = .001) after controlling for confounders. The slope of the correlation was 0.04 mg/min (95% confidence interval, 0...

[Effect of Transcutaneous Acupoint Electrical Stimulation on Hemodynamic Fluctuation Caused by Loosing Tourniquet in Elderly Patients Undergoing Knee Joint Replacement].

Science.gov (United States)

Liang, Han-Sheng; Feng, Yi

2017-12-25

To observe the effect of transcutaneous acupoint electrical stimulation (TAES) on hemodynamic fluctuation caused by loosing tourniquet in the elderly patients undergoing knee joint replacement. A total of 60 ASA (America Society Anesthesiologist) I or II elderly patients for elective knee joint replacement surgery were randomly divided into control group (30 cases) and TAES group (30 cases). Patients of both groups were treated by intravenous anesthesia, and monitored with bispectral index (BIS, between 45－60) for anesthesia depth, stroke volume variation (SVV) for fluid management, mean arterial pressure (MAP) and cardiac index (CI) for hemodynamic fluctuation evaluation, and with analgesia nociception index (ANI, between 50－70) for remifentanil dosage adjustment. TAES (2 Hz/100 Hz, 8－20 mA) was applied to bilateral Xinshu (BL 15), Feishu (BL 13), Neiguan (PC 6) and Hegu (LI 4) acupoints for 30 min first (followed by anesthesia induction and operation), and given continuously until 15 min after tourniquet loosing. Patients of the control group were only given with electrodes attachment without electrical stimulation. The levels of MAP, CI, and arterial blood pH, PaCO 2 , PaO 2 , base excess (BE) and lactic acid (Lac) 1 min before, and 5 and 15 min after tourniquet loosing, and the dosages of remifentanil and ephedrine after tourniquet loosing were recorded. The changed levels of MAP, CI and blood Lac at 5 min after tourniquet loosing (relevant to the baseline levels), and blood Lac content at 15 min after tourniquet loosing (relevant to 5 min after tourniquet loosing) were significantly lower in the TAES group than in the control group ( P 0.05). TAES has a positive effect on hemodynamics fluctuation caused by loosing tourniquet in the aged patients undergoing knee joint replacement.

Tourniquet application during anesthesia: “What we need to know?”

Directory of Open Access Journals (Sweden)

Kamal Kumar

2016-01-01

Full Text Available Tourniquets are routinely and safely used in limb surgeries throughout the world. Tourniquet application alters normal physiology. Healthy patients tolerate these physiological changes well, but the physiological changes may not be well-tolerated by patients with poor cardiac function. This review discusses the physiological changes associated with tourniquet use, safe practice and provides the latest updates regarding tourniquet use. A systematic literature search of PubMed, MEDLINE, ScienceDirect, and Google Scholar was done. The search results were limited to the randomized controlled trials and systemic reviews. The papers are summarized in this review.

Effects of reperfusion intervals on skeletal muscle injury beneath and distal to a pneumatic tourniquet.

Science.gov (United States)

Pedowitz, R A; Gershuni, D H; Fridén, J; Garfin, S R; Rydevik, B L; Hargens, A R

1992-03-01

To date there have been no experimental studies specifically directed at effects of reperfusion intervals on skeletal muscle injury beneath the tourniquet. 99mTechnetium pyrophosphate (Tc 99) incorporation and correlative histology were used to assess injury 2 days after tourniquet application in muscles beneath (thigh) and distal (leg) to the cuff. Tourniquets were applied to rabbit hindlimbs for a total of either 2 or 4 hours. In the 4-hour series, tourniquet compression (either 125 mm Hg or 350 mm Hg cuff inflation pressure) was either continuous or interrupted by 10-minute reperfusion intervals after 2 hours or after every hour of cuff inflation. In the 2-hour series, tourniquet compression (350 mm Hg) was either continuous or interrupted by 10-minute reperfusion intervals after 2 hours or after every hour of cuff inflation. In the 2-hour series, tourniquet compression (350 mm Hg) was either continuous or interrupted by a 10-minute reperfusion interval after 1 hour. Pyrophosphate incorporation (Tc 99 uptake) was significantly greater in the thigh region than in the leg region in all of the 4-hour tourniquet groups. Tc 99 uptake was significantly reduced by reperfusion after each hour of cuff inflation. With 350 mm Hg tourniquet pressure, a reperfusion interval after 2 hours of cuff inflation tended to exacerbate tourniquet compression injury. Reperfusion intervals did not significantly affect Tc 99 uptake in the leg region of these groups. With a 2-hour tourniquet time, Tc 99 uptake in the thigh was significantly decreased by reperfusion after 1 hour of cuff inflation. Previous clinical recommendations, based on serum creatine phosphokinase abnormalities after experimental tourniquet ischemia, probably reflected tourniquet compression injury. Hourly reperfusion limits skeletal muscle injury during extended periods of tourniquet use.

Effect of the timing of tourniquet release on postoperative hematoma formation: an experimental animal study

Energy Technology Data Exchange (ETDEWEB)

Himel, H.N.; Ahmad, M.; Parmett, S.R.; Strauss, H.W.; May, J.W. Jr.

1989-04-01

There is a controversy over when to release a pneumatic tourniquet after completing a hand surgical procedure. To study this controversy, we performed a standardized operation with tourniquet inflow occlusion on both lower legs of a series of rabbits. Total tourniquet time and the procedure performed, including intraoperative Bovie electrocautery of actual and potential bleeding points identified with 2.5 X loupe magnification, were identical on the two sides, except for the method of tourniquet release. On one leg, the tourniquet was released and all new bleeding points were controlled prior to wound closure. On the other leg, the tourniquet was released after the wound had been closed and dressed. Animals were injected with technetium-99m-labeled red blood cells and scanned to measure hematoma formation. Qualitatively, we observed more label in the leg whose tourniquet was released after wound closure in 17 of the 20 animals (p less than 0.005). Quantitatively, we also measured more mean label in the leg whose tourniquet was released after the wound was closed (p less than 0.001). Tourniquet release after wound closure was associated with greater hematoma formation.

Effect of the timing of tourniquet release on postoperative hematoma formation: an experimental animal study

International Nuclear Information System (INIS)

Himel, H.N.; Ahmad, M.; Parmett, S.R.; Strauss, H.W.; May, J.W. Jr.

1989-01-01

There is a controversy over when to release a pneumatic tourniquet after completing a hand surgical procedure. To study this controversy, we performed a standardized operation with tourniquet inflow occlusion on both lower legs of a series of rabbits. Total tourniquet time and the procedure performed, including intraoperative Bovie electrocautery of actual and potential bleeding points identified with 2.5 X loupe magnification, were identical on the two sides, except for the method of tourniquet release. On one leg, the tourniquet was released and all new bleeding points were controlled prior to wound closure. On the other leg, the tourniquet was released after the wound had been closed and dressed. Animals were injected with technetium-99m-labeled red blood cells and scanned to measure hematoma formation. Qualitatively, we observed more label in the leg whose tourniquet was released after wound closure in 17 of the 20 animals (p less than 0.005). Quantitatively, we also measured more mean label in the leg whose tourniquet was released after the wound was closed (p less than 0.001). Tourniquet release after wound closure was associated with greater hematoma formation

Ingen evidens for rutinemæssig anvendelse af tourniquet til ortopædkirurgi

DEFF Research Database (Denmark)

Røjskjær, Jesper; Foss, Nicolai Bang; Kristensen, Billy Bjarne

2011-01-01

The tourniquet is often used during orthopaedic surgery in order to optimize the view of the surgical field. The recommended guidelines for the use of tourniquet are not well known even though complications following tourniquet use are well documented. We have made a short review of the literature...

Tourniquet Deflation Prior to 20 Minutes in Upper Extremity Intravenous Regional Anesthesia.

Science.gov (United States)

Gurich, Richard W; Langan, Justin W; Teasdall, Robert J; Tanner, Stephanie L; Sanders, John L

2018-03-01

Bier blocks, or intravenous regional anesthesia (IVRA), are a method of anesthesia for upper extremity surgeries. This study reports our experience with tourniquet deflation prior to 20 minutes with upper extremity IVRA. This study was designed as a retrospective cohort analysis. Records, including intraoperative and immediate postoperative anesthesia notes, of 430 patients who underwent IVRA with an upper extremity Bier block and a corresponding tourniquet time of less than 20 minutes were reviewed. Patient demographics, procedure(s) performed, American Society of Anesthesiologists scores, volume of lidocaine used in Bier block, tourniquet time, and any complications were recorded. This cohort consisted of 127 males and 303 females. The 3 most common procedures performed were carpal tunnel release (315), trigger finger release (47), and excision of masses (34). The average tourniquet time for this cohort was 16 minutes (range, 9-19 minutes), and the average volume of lidocaine (0.5% plain) injected was 44 mL (range, 30-70 mL). A tourniquet time of 17 minutes or less was observed in 339 patients, and 170 patients had tourniquet times of 15 minutes or less. Five complications were recorded: intraoperative vomiting, mild postoperative nausea/vomiting, severe postoperative nausea and vomiting, and transient postoperative hypotension that responded to a fluid bolus. No major complications were observed in our cohort of upper extremity IVRA and tourniquet times of less than 20 minutes. Several variables play a role in the safety of upper extremity IVRA.

Tourniquet pressures: strap width and tensioning system widths.

Science.gov (United States)

Wall, Piper L; Coughlin, Ohmar; Rometti, Mary; Birkholz, Sarah; Gildemaster, Yvonne; Grulke, Lisa; Sahr, Sheryl; Buising, Charisse M

2014-01-01

Pressure distribution over tourniquet width is a determinant of pressure needed for arterial occlusion. Different width tensioning systems could result in arterial occlusion pressure differences among nonelastic strap designs of equal width. Ratcheting Medical Tourniquets (RMTs; m2 inc., http://www.ratcheting buckles.com) with a 1.9 cm-wide (Tactical RMT) or 2.3 cm-wide (Mass Casualty RMT) ladder were directly compared (16 recipients, 16 thighs and 16 upper arms for each tourniquetx2). Then, RMTs were retrospectively compared with the windlass Combat Application Tourniquet (C-A-T ["CAT"], http://combattourniquet.com) with a 2.5 cm-wide internal tensioning strap. Pressure was measured with an air-filled No. 1 neonatal blood pressure cuff under each 3.8 cm-wide tourniquet. RMT circumferential pressure distribution was not uniform. Tactical RMT pressures were not higher, and there were no differences between the RMTs in the effectiveness, ease of use ("97% easy"), or discomfort. However, a difference did occur regarding tooth skipping of the pawl during ratchet advancement: it occurred in 1 of 64 Tactical RMT applications versus 27 of 64 Mass Casualty RMT applications. CAT and RMT occlusion pressures were frequently over 300 mmHg. RMT arm occlusion pressures (175-397 mmHg), however, were lower than RMT thigh occlusion pressures (197-562 mmHg). RMT effectiveness was better with 99% reached occlusion and 1% lost occlusion over 1 minute versus the CAT with 95% reached occlusion and 28% lost occlusion over 1 minute. RMT muscle tension changes (up to 232 mmHg) and pressure losses over 1 minute (24±11 mmHg arm under strap to 40±12 mmHg thigh under ladder) suggest more occlusion losses may have occurred if tourniquet duration was extended. The narrower tensioning system Tactical RMT has better performance characteristics than the Mass Casualty RMT. The 3.8 cm-wide RMTs have some pressure and effectiveness similarities and differences compared with the CAT. Clinically

Compartment syndrome after total knee arthroplasty: regarding a clinical case

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Ana Alexandra da Costa Pinheiro

2015-08-01

Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

Skeletal muscle injury induced by a pneumatic tourniquet: an enzyme- and immunohistochemical study in rabbits.

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Pedowitz, R A; Fridén, J; Thornell, L E

1992-03-01

The pathophysiology of skeletal muscle injury induced by compression beneath pneumatic tourniquets is poorly understood. Tourniquet hemostasis was induced in rabbit hindlimbs for 2 hr with a cuff inflation pressure of either 125 mm Hg (n = 5) or 350 mm Hg (n = 5). Skeletal muscle biopsies, taken 2 days later from tissue beneath and distal to the tourniquet, were frozen and analyzed using enzyme- and immunohistochemical techniques. In the 350 mm Hg tourniquet group, four of 10 thigh muscle samples demonstrated significant regional necrosis (mean 37.3% of the total cross-sectional area). Regional necrosis was not observed in thigh muscles of the 125 mm Hg tourniquet group or in any of the ischemic leg muscles. A topographic pattern of necrosis consistent with the arterial distribution of skeletal muscle suggested pathogenic events during the reperfusion period, such as granulocyte-mediated superoxide radical formation. Extremely large and rounded fibers (histochemically identified as Type IIB fibers) were observed in compressed thigh muscles, indicating differential fiber sensitivity to tourniquet compression and ischemia. The present study demonstrated significant skeletal muscle necrosis after a 2 hr tourniquet applied at a clinically relevant cuff inflation pressure. Recent studies of systemic changes associated with limb "ischemia" should be reassessed in consideration of the confounding effects of tissue compression induced beneath pneumatic tourniquets.

Effect of early release of tourniquet in total knee arthroplasty

International Nuclear Information System (INIS)

Abbas, K.; Raza, H.; Umer, M.; Hafiz, K.

2013-01-01

To evaluate whether tourniquet release intraoperatively is better than postoperative release in reducing overall blood loss, duration of surgery, duration of tourniquet, length of hospital stay, wound related complications and transfusion requirement. Study Design: Comparative study. Place and Duration of Study: Department of Surgery, The Aga Khan University Hospital, Karachi, from January 2004 to June 2007. Methodology: One hundred and thirty patient files were reviewed retrospectively. Patients were divided into two groups. Group-A consisted of 65 patients with early deflation of tourniquet and group-B comprised of 65 patients with the release of tourniquet after applying compressive dressing. Total blood loss (determined by Gross method) and other study variables were noted as per objective and computed. Results: There were 22 males and 108 females with comparable BMI. All had undergone posterior stabilized cemented total knee replacement. Calculated blood loss was 1.208 L and 1.108 L in group-A and B respectively (p = 0.27). Significant increase in duration of surgery was noted in group-A patients. Four patients in group-B showed complication related to wound with 3 being minor and 1 requiring additional operation room visit. Mean length of hospital stay was 9 days. Transfusion frequency was higher in group-B despite comparable postoperative haemoglobin values. Conclusion: Intraoperative tourniquet release does not reduce overall blood loss with no effect in conserving blood after total knee replacement, however, this group had relatively shorter hospital stay. (author)

Just-in-Time to Save Lives: A Pilot Study of Layperson Tourniquet Application.

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Goolsby, Craig; Branting, Andrew; Chen, Elizabeth; Mack, Erin; Olsen, Cara

2015-09-01

The objective was to determine whether just-in-time (JiT) instructions increase successful tourniquet application by laypersons. This was a randomized pilot study conducted in August 2014. The study occurred at the Uniformed Services University campus in Bethesda, Maryland. A total of 194 volunteers without prior military service or medical training completed the study. The participant stood in front of a waist-down mannequin that had an exposed leg. An observer read a scenario card aloud that described a mass casualty event. The observer then asked the participant to apply a Combat Application Tourniquet (C-A-T) to the mannequin. Test participants received a 4 × 6-inch card, with JiT instructions, in addition to their C-A-T; controls received no instructions. Participants were randomized in a 3:1 ratio of instructions to no instructions. The study's primary outcome was the proportion of successfully applied tourniquets by participants receiving JiT instructions compared to participants not receiving instructions. Secondary outcomes included the time for successful tourniquet placement, reasons for failed tourniquet application, and participants' self-reported willingness and comfort using tourniquets in real-life settings. Just-in-time instructions more than doubled successful tourniquet placement. Participants supplied with JiT instructions placed a tourniquet successfully 44.14% of the time, compared to 20.41% of the time for controls without instructions (risk ratio = 2.16; 95% confidence interval = 1.21 to 3.87; p = 0.003). Just-in-time instructions increase laypeople's successful application of C-A-T. This pilot study provides evidence that JiT instructions may assist the lay public in providing effective point-of-injury hemorrhage control. Published 2015. This article is a U.S. Government work and is in the public domain in the USA.

Hemodynamic changes in rat leg muscles during tourniquet-induced ischemia-reperfusion injury observed by near-infrared spectroscopy

International Nuclear Information System (INIS)

Kim, J G; Lee, J; Tromberg, B J; Brenner, M; Roe, J; Walters, T J

2009-01-01

In this study, we hypothesized that non-invasive continuous wave near-infrared spectroscopy (CWNIRS) can determine the severity or reversibility of muscle damage due to ischemia/reperfusion (I/R), and the results will be highly correlated with those from physical examination and histological analysis. To test this hypothesis, we performed CWNIRS measurements on two groups of male Sprague-Dawley rats (∼400 g) that underwent 2 h (n = 6) or 3 h (n = 7) of pneumatic tourniquet application (TKA). Tissue oxyhemoglobin [HbO 2 ] and deoxyhemoglobin [Hb] concentration changes were monitored during the 2 h or 3 h of 250 mmHg TKA and for an additional 2 h post-TKA. Rats were euthanized 24 h post-TKA and examined for injury, edema and viability of muscles. Contralateral muscles served as controls for each animal. In both groups, [HbO 2 ] dropped immediately, then gradually decreased further after TKA and then recovered once the tourniquet was released. However, releasing after 2 h of TKA caused [HbO 2 ] to overshoot above the baseline during reperfusion while the 3 h group continued to have lower [HbO 2 ] than baseline. We found a significant correlation between the elapsed time from tourniquet release to the first recovery peak of [HbO 2 ] and the muscle weight ratio between tourniquet and contralateral limb muscles (R = 0.86). Hemodynamic patterns from non-invasive CWNIRS demonstrated significant differences between 2 h and 3 h I/R. The results demonstrate that CWNIRS may be useful as a non-invasive prognostic tool for conditions involving vascular compromise such as extremity compartment syndrome

The efficacy of tourniquet assisted total knee arthroplasty on patient-reported and performance-based physical function

DEFF Research Database (Denmark)

Lohmann-Jensen, Rasmus; Holsgaard-Larsen, Anders; Emmeluth, Claus

2014-01-01

surgery. The non-tourniquet assisted TKA group will have surgery performed without application of a tourniquet. The primary aim is to compare tourniquet assisted to non-tourniquet assisted TKA on patient-reported physical function (KOOS-ADL). The secondary aim is to compare post-surgery pain, function...... in sports and recreation, quality of life, and performance-based physical function. The explorative outcomes include; use of pain medication, single-fiber muscle damage, and changes in mechanical muscle function. The primary endpoint will be at 3-months following surgical treatment, and the time...... randomized clinical trial comparing the efficacy of tourniquet assisted TKA on patient-reported physical function supported by a range of performance-based secondary outcome measures. As such it will provide high quality evidence that may help determine whether tourniquet should be used in future TKA...

Penile hair tourniquet resulting in hypospadias failure

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Lisieux E Jesus

2014-01-01

Full Text Available Penile hair tourniquet (PHT is a painless form of penile ischemia, typically seen in toddlers with long-haired mothers, caused by entanglement of hair on the balano-prepucial sulcus, normally associated with circumcision. Its association with hypospadias has been reported only once. A school-aged boy admitted for surgery to treat hypospadias failure was incidentally detected to have PHT and severe hourglass deformity of the penis. Urethral anastomosis and glanuloplasty were done after removal of the constricting ring, without complications. Normal erections were reported during follow up. Treatment may involve urethral reconstruction and penile reimplantation in extreme cases.

Oxidative stress may be involved in distant organ failure in tourniquet shock model mice.

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Nishikata, Rie; Kato, Naho; Hiraiwa, Kouichi

2014-03-01

Crush syndrome is characterized by prolonged shock resulting from extensive muscle damage and multiple organ failure. However, the pathogenesis of multiple organ failure has not yet been completely elucidated. Therefore, we investigated the molecular biological and histopathological aspects of distant organ injury in crush syndrome by using tourniquet shock model mice. DNA microarray analysis of the soleus muscle showed an increase in the mRNA levels of Cox-2, Hsp70, c-fos, and IL-6, at 3h after ischemia/reperfusion injury at the lower extremity. In vivo staining with hematoxylin and eosin (HE) showed edema and degeneration in the soleus muscle, but no change in the distant organs. Immunohistological staining of the HSP70 protein revealed nuclear translocation in the soleus muscle, kidney, liver, and lung. The c-fos mRNA levels were elevated in the soleus muscle, kidney, and liver, displaying nuclear translocation of c-FOS protein. Terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) analysis suggested the involvement of apoptosis in ischemia/reperfusion injury in the soleus muscle. Apoptotic cells were not found in greater quantities in the kidney. Oxidative stress, as determined using a free radical elective evaluator (d-ROM test), markedly increased after ischemia/reperfusion injury. Therefore, examination of immunohistological changes and determination of oxidative stress are proposed to be useful in evaluating the extent of tourniquet shock, even before changes are observed by HE staining. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Battlefield Tourniquets: Lessons Learned in Moving Current Care Toward Best Care in an Army Medical Department at War.

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Kragh, John F; Dubick, Michael A

2016-01-01

Bleeding prevention and control by tourniquet use by out-of-hospital caregivers is a major breakthrough in military medicine of current wars. The present review documents developments in tourniquet practices since 2001 among the US military services for aid in improving doctrine, policy, and especially care in wars to come. Tourniquets are an adjunct for resuscitation in self-care and buddy aid and today are issued to all military servicepersons who deploy into a combat zone. In the US Army, virtually every Soldier is trained in first aid tourniquet use; since 2009 they are instructed early and often to use them early and often. Despite substantial knowledge gains among the services in tourniquet use and resulting improvements in casualty survival, current evidence shows persistent difficulties in achieving best care with tourniquet use for individual trauma patients. Nevertheless, contemporary tourniquet use incorporates key lessons learned over the last 14 years of war that include: (1) tourniquet use reliably stops bleeding from limb wounds and prevents mortality in prehospital settings; and (2) brief tourniquet use appears to be safe. These 2 lessons have become so evident that civilian emergency medical systems have begun using them, albeit unevenly. Collection and interpretation of data of casualties with tourniquet use have showed that such intervention has lifesaving benefit through 2 mechanisms: control of both ongoing hemorrhage and shock severity. The next generation of interventions in bleeding control involves developing the skill sets, education, and standards of tourniquet users which may improve hemorrhage control in wars to come.

Haemodynamic and end tidal CO2 changes state after inflation and deflation of pneumatic tourniquet on extremities.

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Zaman, S M; Islam, M M; Chowdhury, K K; Rickta, D; Ireen, S T; Choudhury, M R; Alam, M

2010-10-01

The use of a tourniquet for obtaining a bloodless field is an essential and accepted tool for extremity surgery. A prospective study was done on 30 adult patients undergoing elective limb surgery requiring tourniquet application for haemodynamic and End tidal CO2 (EtCO2) changes. After the induction of general anaesthesia a tourniquet was applied on the limb. There was gradual increase in heart rate & EtCO2 through out the whole period of tourniquet inflation. There was also significant increase of mean arterial pressure during the inflation period. At the end of surgery tourniquet was deflated. Tourniquet time was 76.83+/-16.94 minutes. After deflation of the tourniquet, heart rate & EtCO2 value increased & the values were maximum at 5 minutes. These values came down to the base line at 15 minutes. There was significant decrease of mean arterial pressure (MAP) at 5 minute; it also came to the base at 15 minute. These changes are usually benign but can be significant in patients with co-existing cardiovascular & intracranial diseases. In conclusion, we recommend the haemodynamic and End tidal CO2 monitoring as well as rapid fluid infusion along with hyperventilation for 15-30 minutes after deflation of tourniquet.

Comparison of ketorolac and low-dose ketamine in preventing tourniquet-induced increase in arterial pressure

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Raza Zaidi

2015-01-01

Full Text Available Background and Aims: Application of tourniquet during orthopaedic procedures causes pain and increase in blood pressure despite adequate anaesthesia and analgesia. In this study, we compared ketorolac with ketamine in patients undergoing elective lower limb surgery with tourniquet in order to discover if ketorolac was equally effective or better than ketamine in preventing tourniquet-induced hypertension. Methods: Approval was granted by the Institutional Ethics Review Committee and informed consent was obtained from all participants. A randomised double-blinded controlled trial with 38 patients each in the ketamine and ketorolac groups undergoing elective knee surgery for anterior cruciate ligament repair or reconstruction was conducted. Induction and maintenance of anaesthesia were standardised in all patients, and the minimum alveolar concentration of isoflurane was maintained at 1.2 throughout the study period. One group received ketamine in a dose of 0.25 mg/kg and the other group received 30 mg ketorolac 10 min before tourniquet inflation. Blood pressure was recorded before induction of anaesthesia (baseline and at 0, 10, 20, 30, 40, 50, and 60 min after tourniquet inflation. Results: The demographic and anaesthetic characteristics were similar in the two groups. At 0 and 10 min, tourniquet-induced rise in blood pressure was not observed in both groups. From 20 min onward, both systolic and diastolic blood pressures were significantly higher in ketorolac group compared to ketamine group. Conclusion: We conclude that ketamine is superior to ketorolac in preventing tourniquet-induced increases in blood pressure.

Tourniquet application and epinephrine injection to penile skin: is it safe?

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Cakmak, M; Caglayan, F; Kisa, U; Bozdogan, O; Saray, A; Caglayan, O

2002-09-01

Although a tourniquet is frequently used in penile surgery there is still no consensus on safe application time. The aim of the present study is to investigate the effect of malondialdehyde (MDA) levels and histological changes in skin flaps after penile tourniquet application and epinephrine injection. A total of 36 male white New Zealand rabbits were randomly divided into six groups each containing six animals. A Mathieu-like flap was raised in all of the groups and a tourniquet was applied and the penis was subjected to ischemia for 10, 20 and 40 min in groups 1, 2 and 3, respectively. The flaps were then allowed to reperfuse for 5 min. Biopsies for MDA measurement were harvested in these groups. Subcutaneous 1/200,000 epinephrine was injected into penile skin in group 4 and 5 rabbits and biopsies for MDA measurement were harvested 10 and 40 min after injection. The control group was anesthetized without tourniquet usage or epinephrine injection. Specimens taken from the harvested flaps of all groups were submitted for histological evaluation. The mean MDA levels in all experimental groups were higher than in the control group and the difference was statistically significant. Edema, congestion and extravasation were observed in groups 1, 2 and 3. Minimal congestion and edema were observed in group 4 and severe edema and extravasation in group 5. Tourniquet usage for a duration of less than 10 min is clearly safer than prolonged usage. Epinephrine injection to penile skin may show a deleterious effect on wound healing.

Unwrapping a First Aid Tourniquet From Its Plastic Wrapper With and Without Gloves Worn: A Preliminary Study.

Science.gov (United States)

Kragh, John F; Aden, James K; Lambert, Connor D; Moore, Virgil K; Dubick, Michael A

The purpose of this study was to gather data about unwrapping a packaged limb tourniquet from its plastic wrapper while wearing different types of gloves. Because already unwrapped tourniquets require no time to unwrap, unwrapping data may provide insights into the issue of having tourniquets unwrapped when stowed in a first aid kit of a Serviceperson at war. In a laboratory setting, 36 tests of nine glove groups were performed in which four people, gloved and ungloved, unwrapped tourniquets. Other tourniquets were environmentally exposed for 3 months. All the users successfully unwrapped each tourniquet. Mean times to unwrap by glove group were not significantly different (p = .0961). When mean values of eight experimental groups were compared with that of one control group (i.e., bare hands), results showed no significant difference (p > .07). Mean time was least for bare hands (12 seconds) and most for cold gloves layered under mittens (22 seconds). Among the 36 pairwise comparisons of difference between glove group means, after adjustment for multiple comparisons, no comparison was noted to be statistically significant (p > .052, all 36 pairs). Glove thickness ranged from 0 mm for bare hands to 2.5 mm for cold gloves layered under mittens. By glove group, the thickness-time association was moderate, as tested by linear regression (R2 = 0.6096). The tourniquets exposed to the environment had evidence of rapid photodegradation due to direct exposure to sunlight. Such exposure also destroyed the wrappers. In a preliminary study, different gloves performed similarly when wearers unwrapped a tourniquet from its wrapper. The tourniquet wrappers gave no visible protection from sunlight, and environmental exposure destroyed the wrappers. 2017.

[Development of an automatic pneumatic tourniquet system that determines pressures in synchrony with systolic blood pressure].

Science.gov (United States)

Liu, Hongyun; Li, Kaiyuan; Zhang, Zhengbo; Guo, Junyan; Wang, Weidong

2012-11-01

The correlation coefficients between arterial occlusion pressure and systolic blood pressure, diastolic blood pressure, limb circumference, body mass etc were obtained through healthy volunteer experiments, in which tourniquet were applied on upper/lower extremities. The prediction equations were derived from the data of experiments by multiple regression analysis. Based on the microprocessor C8051F340, a new pneumatic tourniquet system that can determine tourniquet pressure in synchrony with systolic blood pressure was developed and verified the function and stability of designed system. Results showed that the pneumatic tourniquet which automatically adjusts occlusion pressure in accordance with systolic blood pressure could stop the flow of blood to get a bloodless field.

Absence of a Tourniquet Does Not Affect Fixation of Cemented TKA: A Randomized RSA Study of 70 Patients.

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Ejaz, Ashir; Laursen, Anders C; Jakobsen, Thomas; Rasmussen, Sten; Nielsen, Poul Torben; Laursen, Mogens B

2015-12-01

We aimed to determine whether not using a tourniquet in cemented TKA would affect migration of the tibial component measured by radiosterometric analysis (RSA). Seventy patients were randomized into a tourniquet group and a non-tourniquet group and using model-based RSA, the migration of the tibial component was analyzed. Primary and secondary outcome measures were maximum total point motion (MTPM) and translations and rotations. Follow-up period was 2 years. The tibial component was well fixated in both groups and no significant difference in migration between the two groups was detected (P=0.632). Mean MTPM (SD) was 0.47 mm (0.16) in the tourniquet group and 0.45 mm (0.21) in the non-tourniquet group. Absence of tourniquet indicates that stable fixation of the tibial component can be achieved in cemented TKA. Copyright © 2015 Elsevier Inc. All rights reserved.

Clonidine versus ketamine to prevent tourniquet pain during intravenous regional anesthesia with lidocaine.

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Gorgias, N K; Maidatsi, P G; Kyriakidis, A M; Karakoulas, K A; Alvanos, D N; Giala, M M

2001-01-01

Both clonidine and ketamine have been found to prolong the action of local anesthetics through a peripheral mechanism. Our study compares the efficacy of a low dose of clonidine or ketamine separately added to intravenous regional anesthesia (IVRA) with lidocaine to prevent tourniquet pain. We conducted a prospective randomized double-blinded study in 45 patients undergoing hand or forearm surgery, with anticipated duration exceeding 1 hour under IVRA. Proximal cuff inflation of a double tourniquet was followed by administration of 40 mL of lidocaine 0.5% and either saline, 1 microg/kg clonidine, or 0.1 mg/kg ketamine. When anesthesia was established, the inflation of the proximal and distal cuff was interchanged. Thereafter, tourniquet pain was rated on a visual analog scale (VAS) every 10 minutes. Intraoperatively, boluses of 25 microg fentanyl were provided for tourniquet pain treatment when required, and total fentanyl consumption was recorded. Patients receiving plain lidocaine persistently reported the highest pain scores among groups (P <.001) 20 minutes after distal cuff inflation. Differences between the groups with additional treatment were noted 50 minutes after distal cuff inflation and until the end of the observation, with significantly lower VAS ratings (P <.001 to P <.01) in ketamine-treated patients. Total fentanyl consumption was significantly decreased by ketamine (70.00 +/- 25.35 microg) or clonidine (136.67 +/- 39.94 microg) compared with the plain lidocaine group (215.33 +/- 52.33 microg) (P <.001 between all groups). The addition of clonidine 1 microg/kg or ketamine 0.1 mg/kg to lidocaine for IVRA delays the onset of unbearable tourniquet pain and decreases analgesic consumption for tourniquet pain relief, although ketamine has a more potent effect.

Dexamethasone Protects Against Tourniquet-Induced Acute Ischemia-Reperfusion Injury in Mouse Hindlimb

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Ryan M. Corrick

2018-03-01

Full Text Available Extremity injuries with hemorrhage have been a significant cause of death in civilian medicine and on the battlefield. The use of a tourniquet as an intervention is necessary for treatment to an injured limb; however, the tourniquet and subsequent release results in serious acute ischemia-reperfusion (IR injury in the skeletal muscle and neuromuscular junction (NMJ. Much evidence demonstrates that inflammation is an important factor to cause acute IR injury. To find effective therapeutic interventions for tourniquet-induced acute IR injuries, our current study investigated effect of dexamethasone, an anti-inflammatory drug, on tourniquet-induced acute IR injury in mouse hindlimb. In C57/BL6 mice, a tourniquet was placed on unilateral hindlimb (left hindlimb at the hip joint for 3 h, and then released for 24 h to induce IR. Three hours of tourniquet and 24 h of release (24-h IR caused gastrocnemius muscle injuries including rupture of the muscle sarcolemma and necrosis (42.8 ± 2.3% for infarct size of the gastrocnemius muscle. In the NMJ, motor nerve terminals disappeared, and endplate potentials were undetectable in 24-h IR mice. There was no gastrocnemius muscle contraction in 24-h IR mice. Western blot data showed that inflammatory cytokines (TNFα and IL-1β were increased in the gastrocnemius muscle after 24-h IR. Treatment with dexamethasone at the beginning of reperfusion (1 mg/kg, i.p. significantly inhibited expression of TNFα and IL-1β, reduced rupture of the muscle sarcolemma and infarct size (24.8 ± 2.0%, and improved direct muscle stimulation-induced gastrocnemius muscle contraction in 24-h IR mice. However, this anti-inflammatory drug did not improve NMJ morphology and function, and sciatic nerve-stimulated skeletal muscle contraction in 24-h IR mice. The data suggest that one-time treatment with dexamethasone at the beginning of reperfusion only reduced structural and functional impairments of the skeletal muscle but not the

Relation between preoperative autonomic function and blood pressure change after tourniquet deflation during total knee replacement arthroplasty.

Science.gov (United States)

Huh, In Young; Kim, Dae-Young; Lee, Ji-Hyeon; Shin, Soo Jin; Cho, Young Woo; Park, Soon Eun

2012-02-01

Tourniquets are used to provide a bloodless surgical field for extremities. Hypotension due to vasodilation and bleeding after tourniquet deflation is a common event. Hemodynamic stability is modulated by the autonomic nervous system (ANS). Heart rate variability (HRV) is a sensitive method for detecting individuals who may be at risk of hemodynamic instability during general anesthesia. The purpose of this study was to investigate ANS function to predict hypotension after tourniquet deflation. Eighty-six patients who underwent total knee replacement arthroplasty (TKRA) were studied. HRV, systolic blood pressure variability (SBPV) and baroreflex sensitivity (BRS) were analyzed. We assigned two groups depending on the lowest systolic blood pressure (SBP) or mean BP (MBP) after tourniquet release (Group H; SBP 80 mmHg and MBP > 60 mmHg). Fifteen patients developed severe hypotension and ten patients were treated with ephedrine. Of the parameters of HRV, SBPV, and BRS, only BRS(SEQ) was significant being low in Group H. BRS and high-frequency SBPV were correlated with the degree of MBP change after tourniquet deflation. Preoperative low BRS is associated with hypotension after tourniquet deflation, suggesting the importance of baroreflex regulation for intraoperative hemodynamic stability.

Predictive diagnostic value of the tourniquet test for the diagnosis of dengue infection in adults

Science.gov (United States)

Mayxay, Mayfong; Phetsouvanh, Rattanaphone; Moore, Catrin E; Chansamouth, Vilada; Vongsouvath, Manivanh; Sisouphone, Syho; Vongphachanh, Pankham; Thaojaikong, Thaksinaporn; Thongpaseuth, Soulignasack; Phongmany, Simmaly; Keolouangkhot, Valy; Strobel, Michel; Newton, Paul N

2011-01-01

Objective To examine the accuracy of the admission tourniquet test in the diagnosis of dengue infection among Lao adults. Methods Prospective assessment of the predictive diagnostic value of the tourniquet test for the diagnosis of dengue infection, as defined by IgM, IgG and NS1 ELISAs (Panbio Ltd, Australia), among Lao adult inpatients with clinically suspected dengue infection. Results Of 234 patients with clinically suspected dengue infection on admission, 73% were serologically confirmed to have dengue, while 64 patients with negative dengue serology were diagnosed as having scrub typhus (39%), murine typhus (11%), undetermined typhus (12%), Japanese encephalitis virus (5%), undetermined flavivirus (5%) and typhoid fever (3%); 25% had no identifiable aetiology. The tourniquet test was positive in 29.1% (95% CI = 23.2–34.9%) of all patients and in 34.1% (95% CI = 27.0–41.2%) of dengue-seropositive patients, in 32.7% (95% CI = 23.5–41.8) of those with dengue fever and in 36.4% (95% CI = 24.7–48.0) of those with dengue haemorrhagic fever. Interobserver agreement for the tourniquet test was 90.2% (95% CI = 86.4–94.0) (Kappa = 0.76). Using ELISAs as the diagnostic gold standard, the sensitivity of the tourniquet test was 33.5–34%; its specificity was 84–91%. The positive and negative predictive values were 85–90% and 32.5–34%, respectively. Conclusions The admission tourniquet test has low sensitivity and adds relatively little value to the diagnosis of dengue among Lao adult inpatients with suspected dengue. Although a positive tourniquet test suggests dengue and that treatment of alternative diagnoses may not be needed, a negative test result does not exclude dengue. PMID:20958892

Minor Morbidity with Emergency Tourniquet Use to Stop Bleeding in Severe Limb Trauma: Research, History, and Reconciling Advocates and Abolitionists

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2011-07-01

the proximity of susceptible arm and leg nerves to the skin , and the body regions with high nerve palsy risk with emergency tourniquets evidenced in...tourniquet palsy, and prehospital tourniquet use was associated with all our tourniquet palsies, over- tightening by prehospital appliers may be a...Transplant Foundation. REFERENCES I. Bellamy RF : The causes of death in conventional land warfare: implica- tions for combat casualty care research. Mil Med

Bilateral passive leg raising attenuates and delays tourniquet deflation-induced hypotension and tachycardia under spinal anaesthesia: a randomised controlled trial.

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Huang, Go-Shine; Wang, Chih-Chien; Hu, Mei-Hua; Cherng, Chen-Hwan; Lee, Meei-Shyuan; Tsai, Chien-Sung; Chan, Wei-Hung; Hsieh, Xhang-Xian; Lin, Leou-Chyr

2014-01-01

The pneumatic tourniquet is frequently used in total knee arthroplasty. Tourniquet deflation may result in hypotension and tachycardia caused by the rapid shift of blood volume back to the ischaemic limb and a decrease in cardiac preload. Passive leg raising (PLR) represents a 'self-volume challenge' that can result in an increase in preload. Such a PLR-induced increase in preload was hypothesised to attenuate the decrease in preload resulting from tourniquet deflation. To evaluate the effect of PLR on hypotension and tachycardia following tourniquet deflation. A randomised controlled trial. Single medical centre. Seventy patients who underwent unilateral total knee arthroplasty were randomised into two groups: tourniquet deflation with PLR (n = 35) or without PLR (control group, n = 35). Patients in both groups were administered a single dose of plain bupivacaine for spinal anaesthesia. The pneumatic tourniquet was inflated on the thigh and the surgery was performed. The study composed of four steps: for the PLR group, step 1 - inflation of the tourniquet while the patient was supine; step 2 - the patient's legs were raised to a 45° angle; step 3 - the tourniquet was deflated while the patient's legs were still raised; and step 4 - the legs were returned to the supine position. In the control group, the same perioperative procedure was used, but PLR was not conducted. The patients' blood pressure and heart rate were measured before, during and after tourniquet deflation. After tourniquet deflation, the magnitude of the changes in blood pressure and heart rate was less in the PLR group than that in the control group. In addition, the blood pressure nadir also occurred later in the PLR group than in the controls. Bilateral PLR is a simple, reversible manoeuvre that mimics rapid fluid loading. Bilateral PLR attenuates the severity of, and delays the time to, hypotension and tachycardia following deflation of a lower limb tourniquet. ClinicalTrials.gov number

Tourniquets and exsanguinators: a potential source of infection in the orthopedic operating theater?

LENUS (Irish Health Repository)

Brennan, Stephen A

2009-04-01

BACKGROUND AND PURPOSE: Fomites are increasingly being recognised as a source of hospital-acquired infection. We have therefore assessed tourniquets and exsanguinators for the presence of bacterial pathogens in 1 elective and 2 trauma orthopedic hospitals. MATERIAL AND METHODS: Swabs were taken prior to and after decontaminating these devices with 1 of 3 different cleaning modalities. These were then assessed for colony counts and organisms identified. RESULTS: Bacteria commonly implicated in surgical site infections such as coagulase-negative staphylococci, Staphylococcus aureus and Proteus spp. were prevalent. We also found a resistant strain of Acinetobacter and Candida. Exsanguinators were the most heavily contaminated devices, and colony counts in the trauma hospitals were up to 400% higher than in the elective hospital. Alcohol- and non-alcohol-based sterile wipes were both highly effective in decontaminating the devices. INTERPRETATION: Infectious organisms reside on the tourniquets and exsanguinators presently used in the orthopedic theater. These fomites may possibly be a source of surgical site infection. We have demonstrated a simple and effective means of decontaminating these devices between cases.

Tragedy into Drama: An American History of Tourniquet Use in the Current War

Science.gov (United States)

2013-09-01

Tourniquet doctrine refined, expanded in Emergency War Surgery manual 2004 Tourniquets proposed in theater, wait for data is a recipe for inaction; delay...Holcomb adopted a strategy of companies developing field tour- niquets and the Army testing promising candidates, and Walters had a chili cook off–like...the Food and Drug Administration for device consultation (510k pan - elist). In 2007, he received some funds for work for the National Institutes of

Randomized trial of tourniquet vs blood pressure cuff for target vein dilation in ultrasound-guided peripheral intravenous access.

Science.gov (United States)

Nelson, Drew; Jeanmonod, Rebecca; Jeanmonod, Donald

2014-07-01

Ten percent of the time, peripheral intravenous access (PIV) is not obtained in 2 attempts in the emergency department. Typically, a tourniquet is used to dilate the target vein; but recent research showed that a blood pressure (BP) cuff improves dilation, which may translate to increased PIV success. We sought to determine if there is improved success in obtaining ultrasound-guided PIV using a BP cuff vs a tourniquet in "difficult stick" patients. This is a prospective, randomized, single-blinded trial. Adult patients requiring PIV with at least 2 prior failed attempts were enrolled. Patients were assigned to tourniquet or BP cuff for target vein dilation randomly. Nurses prepared the patient for PIV attempt by either placing a BP cuff inflated to 150 mm Hg or placing a tourniquet on the chosen extremity. The extremity was draped to blind the physician to assignment. Physicians then attempted ultrasound-guided PIV. Failures were defined as IVs requiring greater than 3 ultrasound-guided attempts or 30 minutes, or patient intolerance. If failure occurred, the physician was unblinded; and the patient could be crossed over and reattempted. Thirty-eight patients were enrolled. The success rate for the tourniquet group (n = 17) and BP cuff group (n = 21) was 82.4% and 47.6%, respectively (P = .04). There were no differences between groups for vessel depth, diameter, or procedure time. Six in the BP cuff group were crossed over and had successful PIV obtained with tourniquet. Tourniquet is superior to BP cuff for target vein dilation in ultrasound-guided PIV. Copyright © 2014 Elsevier Inc. All rights reserved.

Delineation of calf deep veins using 2D-TOF MR venography without contrast media. Efficacy of tourniquet and leg-warming

International Nuclear Information System (INIS)

Nagayoshi, Kensuke; Okada, Munemasa; Monzen, Yoshio; Kimura, Shojiro; Hamanaka, Yoshiharu; Ochi, Makoto; Hayashi, Kuniaki.

1997-01-01

We evaluated the imaging quality of 2D-TOF MR venography of the lower part of the leg and the efficacy of a tourniquet around the knee and leg-warming. In 8 healthy volunteers, MR venography was carried out under the following four conditions: usual MR venography, MR venography with tourniquet around the knee, MR venography after leg-warming and MR venography with tourniquet after leg-warming. Our results suggested that MR venography with tourniquet after leg-warming is best suited for imaging the veins of the leg. We also compared the diagnostic image quality of MR venography and conventional contrast venography in 7 patients with varices. The results showed no significant differences between the two methods. We conclude that MR venography with tourniquet after leg-warming is a technique that provides reliable information about the veins of the leg. (author)

Intra-operative pneumatic tourniquet - perceptions of use and ...

African Journals Online (AJOL)

applied pressure alone or excessive applied pressure caused by use of faulty equipment. It needs to be emphasised to these surgeons that regular checking of the pneumatic tourniquet apparatus is necessary in order. MRC/UCT Bioenergetics of Exercise Research Unit, Department of. Physiology. University of Cape Town.

Vascular calcifications on the preoperative radiograph: harbinger of tourniquet failure in patients undergoing total knee arthroplasty?

Energy Technology Data Exchange (ETDEWEB)

Woelfle-Roos, Julia Verena; Dautel, Laura; Bieger, Ralf; Reichel, Heiko [University of Ulm, Department of Orthopaedic Surgery, Ulm (Germany); Mayer, Benjamin [University of Ulm, Institute of Epidemiology and Medical Biometrics, Ulm (Germany); Woelfle, Klaus-Dieter [Klinikum Augsburg, Vascular Surgery Division, Surgical Center, Augsburg (Germany)

2017-09-15

Vascular calcifications on the preoperative radiograph of patients scheduled for total knee arthroplasty (TKA) often give rise to concern, as their clinical relevance remains uncertain. The aim of this study was to investigate whether these vascular calcifications - especially medial artery calcifications (MACs), which increase arterial stiffness - were associated with tourniquet failure and thus with increased intraoperative blood loss. A total of 765 patients who underwent primary TKA with a tourniquet (cuff pressure 350 mmHg) between 2009 and 2011 were screened for vascular calcifications on the preoperative radiograph. Vascular calcifications were classified into intimal and medial artery calcifications. Intraoperative blood loss of patients with and without MAC was compared, and a mixed linear regression model was used to adjust for the presence of several confounding factors (e.g., obesity, operating time). None of the 50 (6.5%) patients with MAC showed signs of tourniquet failure. Intraoperative blood loss of patients with MAC was not significantly elevated compared to the overall study group (p = 0.592) even when corrected for the presence of several confounding factors. We found no evidence that vascular calcifications seen on the preoperative radiograph might be associated with tourniquet failure. However, surgeons should be aware of this possibility as tourniquet failure might become more common considering the ongoing trend toward minimizing cuff pressures. (orig.)

Differential effects of hyperventilation on cerebral blood flow velocity after tourniquet deflation during sevoflurane, isoflurane, or propofol anesthesia.

Science.gov (United States)

Hinohara, Hiroshi; Kadoi, Yuji; Ide, Masanobu; Kuroda, Masataka; Saito, Shigeru; Mizutani, Akio

2010-08-01

The purpose of this study was to compare the degree of increase in middle cerebral artery (MCA) blood flow velocity after tourniquet deflation when modulating hyperventilation during orthopedic surgery under sevoflurane, isoflurane, or propofol anesthesia. Twenty-four patients undergoing elective orthopedic surgery were randomly divided into sevoflurane, isoflurane, and propofol groups. Anesthesia was maintained with sevoflurane, isoflurane, or propofol administration with 33% oxygen and 67% nitrous oxide at anesthetic drug concentrations adequate to maintain bispectral values between 45 and 50. A 2.0-MHz transcranial Doppler probe was attached to the patient's head at the temporal window, and mean blood flow velocity in the MCA (V (mca)) was continuously measured. The extremity was exsanguinated with an Esmarch bandage, and the pneumatic tourniquet was inflated to a pressure of 450 mmHg. Arterial blood pressure, heart rate, V (mca) and arterial blood gases were measured every minute for 10 min after release of the tourniquet in all three groups. Immediately after tourniquet release, the patients' respiratory rates were increased to tightly maintain end-tidal carbon dioxide (PetCO(2)) at 35 mmHg. No change in partial pressure of carbon dioxide in arterial blood (PaCO(2)) was observed pre- and posttourniquet deflation in any of the three groups. Increase in V (mca) in the isoflurane group was greater than that in the other two groups after tourniquet deflation. In addition, during the study period, no difference in V (mca) after tourniquet deflation was observed between the propofol and sevoflurane groups. Hyperventilation could prevent an increase in V (mca) in the propofol and sevoflurane groups after tourniquet deflation. However, hyperventilation could not prevent an increase in V (mca) in the isoflurane group.

Inferior Pedicle Reduction Mammoplasty with or without Tourniquet: A Comparative Study.

Science.gov (United States)

Demir, Canser Yilmaz; Sultanoglu, Yılmaz; Kocak, Omer Faruk; Ersoz, Muhammet Eren

2017-10-01

To compare the perioperative findings of inferior pedicle reduction mammoplasty (IPRM) performed with or without a tourniquet. This study was carried out in the plastic and reconstructive surgery department at a tertiary care center on a total of 42 consecutive women scheduled for IPRM. Patients in Group I (n = 21) underwent surgery using a tourniquet, whereas patients in Group II (n = 21) were operated on without a tourniquet. Levels of hemoglobin (Hb), hematocrit (Hct), Hct/Hb ratio, and platelet counts were noted preoperatively and on postoperative 24th and 48th h. Numbers of surgical pads and gauze sponges completely used and dripping with blood were recorded. Duration of operation, the amount of breast tissue excised on both sides, and fluid collected in hemovac drains on 48th h after operation were documented. In Group I, the operative time was significantly shorter (p usage is practical and safe, and it may also improve the cost-effectiveness of the procedure. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Intra-operative warming with a forced-air warmer in preventing hypothermia after tourniquet deflation in elderly patients.

Science.gov (United States)

Kim, Y-S; Jeon, Y-S; Lee, J-A; Park, W-K; Koh, H-S; Joo, J-D; In, J-H; Seo, K-W

2009-01-01

This randomized, single-blind study aimed to explore the effects of intra-operative warming with a forced-air warmer in the prevention of hypothermia after tourniquet deflation in elderly patients undergoing unilateral total knee replacement arthroplasty under general anaesthesia. Patients were randomized to receive either intra-operative warming using a forced-air warmer with an upper body blanket (warming group; n = 12) or no intra-operative warming (nonwarming group; n = 12). Oesophageal temperature was measured as core body temperature. At 30 min following tourniquet inflation, the core body temperature started to increase in the warming group whereas it continued to drop in the non-warming group. This difference was statistically significant. The final core body temperature after tourniquet deflation was significantly higher in the warming group (mean +/- SD 36.1 +/- 0.2 degrees C) than in the non-warming group (35.4 +/- 0.3 degrees C). Intra-operative forced-air warming increased the core body temperature before tourniquet deflation and prevented subsequent hypothermia in elderly patients under general anaesthesia.

Anvendelse af præhospital tourniquet ved livstruende ekstremitetstraumer

DEFF Research Database (Denmark)

Lyngsaa Lang, Christian; Lauridsen, Trine; Boel, Thomas

2015-01-01

Tourniquets have been used for centuries. They have been called lifesavers and "an invention of the evil one". 90.9% of deaths on the battlefields result from haemorrhage. Lessons learned du­ring the wars in Iraq and Afghanistan have developed the treat­ment given to hypovolaemic patients...

Ischaemic preconditioning attenuates haemodynamic response and lipid peroxidation in lower-extremity surgery with unilateral pneumatic tourniquet application: a clinical pilot study.

Science.gov (United States)

Van, Mukaddes; Olguner, Cimen; Koca, Uğur; Sişman, Ali Riza; Muratli, Kivanç; Karci, Ayşe; Mavioğlu, Omür; Kilercik, Hakan

2008-04-01

The harmful effects of ischaemia-reperfusion on skeletal muscle during extremity surgery can be diminished by using medications or ischaemic preconditioning Twenty patients undergoing lower-limb surgery with use of a tourniquet for at least 1 hour were included in the study and randomised into two groups: a control group with only tourniquet application (T group; n=10); and an ischaemic preconditioning plus tourniquet group (IP-T group; n=10). Blood samples were obtained from the femoral vein of the relevant extremity before tourniquet application (baseline), immediately after tourniquet deflation (TD), at 10 minutes after the tourniquet deflation (TD(10min)) in the T group and additionally after ischaemic preconditioning in the IP-T group. Venous blood pH, partial oxygen pressure (P(vO2)), partial carbon dioxide pressure (P(vCO2)), lactate, potassium, sodium and glucose levels were analysed using a blood gas analyser. Plasma thiobarbituric acid reactive substances (TBARS) level, an index of lipid peroxidation and oxidative stress, was measured. Heart rate, noninvasive mean arterial pressure (MAP) and spontaneous breathing rate (SBR) were recorded at baseline, at TD, and TD(1min), TD(5min) and TD(10min). MAP decreased and SBR increased significantly at TD, TD(1min) and TD(5min) compared with baseline, and venous blood TBARS level significantly increased at TD and TD(10min) compared with baseline in the T group (all Plactate levels, which was significant compared with baseline (P<0.05) Ischaemic preconditioning attenuates haemodynamic response and lipid peroxidation during lower-extremity surgery with unilateral tourniquet application.

The satisfaction survey of users and patients on the developed disposable tourniquet

International Nuclear Information System (INIS)

Kim, Sang Hyun

2016-01-01

The 18⁓20G needle is used to computer tomography (CT) contrast examination. Therefore, a patient has to apply a self-administering hemostasis (conventional method: CM) and often experience bleeding in the course. Thus, we developed the new disposable transparent tourniquet (TT) for reducing. This study was to compare the usefulness between the proposed transparent tourniquet and the existing hemostatic methods. A Satisfaction survey was conducted by 50 patients and 25 nurses. The survey contained the satisfaction of the convenience, safety, sanitation, and wearing sensation of transparent tourniquet. We employed face-to-face interview on 5 points likert scales. And Chi-square, paired T-test were used for the statistics verification. As for the patients, the satisfaction levels were measured for each category with the gender, age. Patients evaluation, overall satisfaction high average sore used TT and there were statistical significance by paired T-test(p<0.05). The following is the average satisfaction level for each category: 4.4±0.53 in; 4.28±0.57 in safety; 4.52±0.54 in sanitation; 4.16±0.54 in wearing sensation. So the overall satisfaction level is measured at 4.34±0.51. As for the nurses, CT work experience and the current satisfaction with tourniquet were counted as variables. The satisfaction level for each category is: 3.8±0.7 in; 3.6±0.68 in safety; 3.4±0.5 in sanitation; 3.9±0.49 in hemostasis. The overall satisfaction level is 3.8±0.3. Patients' satisfaction levels were very high with little difference among variables. Nurses' satisfaction levels were different with the TT depending on their work experience but their overall satisfaction was high. This TT will be a starting point to minimizing patient's inconvenience and more studies are necessary to enhance their satisfaction

Use of Advanced Bleeding Control Mechanisms in Athletic Training: A Shift in the Thought Process of Prehospital Care. Part 1: Tourniquets

Science.gov (United States)

Berry, David C.; Seitz, S. Robert; Payne, Ellen K.

2014-01-01

The purpose of this column is to provide athletic training educators (ATE) with evidence regarding the use of tourniquets in the prehospital setting as well as to be a resource on how to teach the management of external hemorrhage using tourniquets.

The satisfaction survey of users and patients on the developed disposable tourniquet

Energy Technology Data Exchange (ETDEWEB)

Kim, Sang Hyun [Dept. of Radiology, Seoul National University Hospital, Seoul (Korea, Republic of)

2016-12-15

The 18⁓20G needle is used to computer tomography (CT) contrast examination. Therefore, a patient has to apply a self-administering hemostasis (conventional method: CM) and often experience bleeding in the course. Thus, we developed the new disposable transparent tourniquet (TT) for reducing. This study was to compare the usefulness between the proposed transparent tourniquet and the existing hemostatic methods. A Satisfaction survey was conducted by 50 patients and 25 nurses. The survey contained the satisfaction of the convenience, safety, sanitation, and wearing sensation of transparent tourniquet. We employed face-to-face interview on 5 points likert scales. And Chi-square, paired T-test were used for the statistics verification. As for the patients, the satisfaction levels were measured for each category with the gender, age. Patients evaluation, overall satisfaction high average sore used TT and there were statistical significance by paired T-test(p<0.05). The following is the average satisfaction level for each category: 4.4±0.53 in; 4.28±0.57 in safety; 4.52±0.54 in sanitation; 4.16±0.54 in wearing sensation. So the overall satisfaction level is measured at 4.34±0.51. As for the nurses, CT work experience and the current satisfaction with tourniquet were counted as variables. The satisfaction level for each category is: 3.8±0.7 in; 3.6±0.68 in safety; 3.4±0.5 in sanitation; 3.9±0.49 in hemostasis. The overall satisfaction level is 3.8±0.3. Patients' satisfaction levels were very high with little difference among variables. Nurses' satisfaction levels were different with the TT depending on their work experience but their overall satisfaction was high. This TT will be a starting point to minimizing patient's inconvenience and more studies are necessary to enhance their satisfaction.

The effect of tourniquet use on fixation quality in cemented total knee arthroplasty a prospective randomized clinical controlled RSA trial.

Science.gov (United States)

Molt, Mats; Harsten, Andreas; Toksvig-Larsen, Sören

2014-03-01

A concern that arises with any change in technique is whether it affects the long-term implant stability. The objective of this study was to evaluate the early migration, measured by radiostereometric analysis (RSA), and the functional outcome of the Triathlon™ cemented knee prosthesis, operated on with or without a tourniquet. During the last decades RSA has emerged as a way to assess prosthetic fixation and long time prognosis. The method has been used extensively in both hip and knee arthroplasty. This was a single centre prospective study including 60 patients randomized into two groups operated on either with or without tourniquet. RSA investigation was done within 2-3 days postoperatively after full weight bearing, and then at 3 months, 1 year and 2 years postoperatively. There were no differences between the groups regarding the translation along or rotation around the three coordinal axes, or in maximum total point motion (MTPM). At 2 years the mean MTPM (SD) was 0.71 mm (0.64) for the tourniquet-group and 0.53 mm (0.21) for the non-tourniquet-group. The tibial tray of the Triathlon™ cemented knee prosthesis showed similar early stability whether operated on with or without tourniquet. Level I. Article focus: A safety study for total knee replacement operated on with or without perioperative tourniquet regarding the prosthetic fixation. Strengths and limitations: Strength of this study is that it is a randomized prospective trial using an objective measuring tool. The sample size of 25-30 patients is reportedly sufficient for the screening of implants using RSA (1-3). Clinical trials NCT01604382, Ethics Committee approval D-nr: 144/20085. © 2013.

Time course of changes in cerebral blood flow velocity after tourniquet deflation in patients with diabetes mellitus or previous stroke under sevoflurane anesthesia.

Science.gov (United States)

Hinohara, Hiroshi; Kadoi, Yuji; Takahashi, Kenichiro; Saito, Shigeru; Kawauchi, Chikara; Mizutani, Akio

2011-06-01

We observed an increase in mean middle cerebral artery blood flow velocity (V(mca)) after tourniquet deflation during orthopedic surgery under sevoflurane anesthesia in patients with diabetes mellitus or previous stroke. Eight controls, seven insulin-treated diabetic patients, and eight previous stroke patients were studied. Arterial blood pressure, heart rate, V(mca), arterial blood gases, and plasma lactate levels were measured every minute for 10 min after tourniquet release in all patients. V(mca) was measured using a transcranial Doppler probe. V(mca) in all three groups increased after tourniquet deflation, the increase lasting for 4 or 5 min. However, the degree of increase in V(mca) in the diabetic patients was smaller than that in the other two groups after tourniquet deflation (at 2 min after tourniquet deflation: control 58.5 ± 3.3, previous stroke 58.4 ± 4.6, diabetes 51.7 ± 2.3; P < 0.05 compared with the other two groups). In conclusion, the degree of increase in V (mca) in diabetic patients is smaller than that in controls and patients with previous stroke.

Tourniquet application after local forearm warming to improve venodilation for peripheral intravenous cannulation in young and middle-aged adults: A single-blind prospective randomized controlled trial.

Science.gov (United States)

Yamagami, Yuki; Tomita, Kohei; Tsujimoto, Tomomi; Inoue, Tomoko

2017-07-01

Local forearm warming before tourniquet application is often used to promote venodilation for peripheral intravenous cannulation; however, few studies have compared the effect of tourniquet application with and without local warming on vein size. To evaluate the effectiveness of tourniquet application after local forearm warming with that of tourniquet application alone in young and middle-aged adults. A single-blind, prospective, parallel group, randomized controlled trial. A national university in Japan. Seventy-two volunteers aged 20-64 years. Participants were randomly allocated to one of two groups: tourniquet application for 30s after forearm application of a heat pack warmed to 40°C±2°C for 15min (active warming group; n=36) or tourniquet application for 30s after applying a non-warmed heat pack for 15min (passive warming group; n=36). The primary outcomes were vein cross-sectional area on the forearm, measured after the intervention by blinded research assistants using ultrasound. Secondary outcomes were shortest diameter, and longest diameter of vein on the forearm, forearm skin temperature, body temperature, pulse, systolic blood pressure, and diastolic blood pressure. All outcomes were assessed at the same site before and immediately after the intervention, once per participant. Vein cross-sectional area, shortest vein diameter, and longest vein diameter were significantly increased in the active warming group compared with the passive warming group (p application after local warming was superior to tourniquet application alone in increasing vein cross-sectional, shortest diameter, and longest diameter (between-group differences of 2.2mm 2 , 0.5mm, and 0.5mm, respectively), and in raising skin temperature (between-group difference: 5.2°C). However, there were no significant differences in body temperature, pulse, or systolic or diastolic blood pressure between the groups. There were no adverse events associated with either intervention. Tourniquet

A study of the blood flow restriction pressure of a tourniquet system to facilitate development of a system that can prevent musculoskeletal complications.

Science.gov (United States)

Maeda, Hiroyuki; Iwase, Hideaki; Kanda, Akio; Morohashi, Itaru; Kaneko, Kazuo; Maeda, Mutsuhiro; Kakinuma, Yuki; Takei, Yusuke; Amemiya, Shota; Mitsui, Kazuyuki

2017-01-01

After an emergency or disaster, subsequent trauma can cause severe bleeding and this can often prove fatal, so promptly stopping that bleeding is crucial to preventing avoidable trauma deaths. A tourniquet is often used to restrict blood flow to an extremity. In operation and hospital, the tourniquet systems currently in use are pneumatically actuated by an air compressor, so they must have a steady power supply. These devices have several drawbacks: they vibrate and are noisy since they are pneumatically actuated and they are far from portable since they are large and heavy. Presumably, the drawbacks of pneumatic tourniquets could be overcome by developing a small, lightweight, vibration-free, quiet, and battery-powered tourniquet system. The current study built a small, vibration-free electrohydrodynamic (EHD) pump and then used that pump to restrict blood flow to the leg of rats in an experiment. This study explored the optimal conditions for effective restriction of blood flow by assessing biochemical and musculoskeletal complications following the restriction of blood flow, and this study also examined whether or not an EHD pump could be used to actuate a tourniquet system. A tourniquet cuff (width 12 mm × length 150 mm, material: polyolefin) was placed on the thigh of Wistar rats and pressure was applied for 2 hours by a device that uses EHD phenomena to generate pressure (an EHD pump). Animals were divided into four groups based on how much compressive pressure was applied with a tourniquet: 40 kPa (300 mm Hg, n = 13), 30 kPa (225 mm Hg, n = 12), 20 kPa (150 mm Hg, n = 15), or 0 kPa (controls, n = 25). Tissue oxygen saturation (regional oxygen saturation, denoted here as rSO 2 ) was measured to assess the restriction of blood flow. To assess behavior once blood flow resumed, animal activity was monitored for third day and the amount of movement was counted with digital counters. Body weight was measured before and after the behavioral experiment, and

The effect of tourniquet deflation on hemodynamics and regional cerebral oxygen saturation in aged patients undergoing total knee replacement surgery.

Science.gov (United States)

Song, Inkyung; Kim, Dong Yeon; Kim, Youn Jin

2012-11-01

Inflation and deflation of a pneumatic tourniquet used in total knee replacement surgery induces various changes in patient's hemodynamic and metabolic status, which may result in serious complications, especially in aged patients. Near-infrared spectroscopy (NIRS) is a monitoring device designed to estimate the regional cerebral oxygen saturation. We evaluated the effect of tourniquet deflation on hemodynamics and regional cerebral oxygen saturation in aged patients undergoing total knee replacement surgery, using NIRS. Twenty-eight American Society of Anesthesiologists physical status I or II patients, over the age of sixty-five years undergoing total knee replacement surgery, were included. Under general anesthesia, the mean arterial pressure (MAP), heart rate (HR), cardiac output (CO), stroke volume (SV), and regional cerebral oxygen saturation (rSO(2)) were recorded before induction of anesthesia and every 2 min after tourniquet deflation for 20 min. Arterial blood gas analysis was performed 5 min before, in addition to 0, and 10 min after tourniquet deflation. The decrease of rSO(2) was not significant during 20-min deflation period. MAP, CO and SV showed significant decrease during 2 to 12, 4 to 6 and 2 to 6-min period after tourniquet deflation, respectively (P deflation caused significant changes in hemodynamic and metabolic status, but not in regional cerebral oxygen saturation. It is recommended to monitor neurologic status, as well as hemodynamic and metabolic status to avoid serious complications, especially in aged patients.

Influence of the ischaemic tourniquet in antibiotic prophylaxis in total knee replacement.

Science.gov (United States)

Prats, Laura; Valls, Joan; Ros, Joaquim; Jover, Alfredo; Pérez-Villar, Ferran; Fernández-Martínez, José Juan

2015-01-01

There is level iv evidence that the preoperative administration of antibiotics helps in the prevention of prosthetic infection. There is controversy on whether the ischemia applied during surgery may affect the minimum inhibitory concentration of the antibiotic in the peri-prosthetic tissues. The aim of this study is to review this phenomenon through the determination of antibiotic concentration in the synovial tissue. A prospective observational clinical study was conducted on 32 patients undergoing total knee replacement. Cefonicid 2g was administered as prophylaxis, with a tourniquet used for all patients. The antibiotic concentration was quantified by high performance liquid chromatography in samples of synovial tissue collected at the beginning and at the end of the intervention. The mean concentration of antibiotic was 23.16 μg/g (95% CI 19.19 to 27.13) in the samples at the beginning of the intervention and 15.45 μg/g (95% CI 13.20 to 17.69) in the final samples, being higher than the minimum inhibitory concentration of cefonicid, set at 8 μg/g. These results were statistically significant for both concentrations (P<.00001). The antibiotic concentration throughout the standard total knee prosthesis surgery performed with tourniquet gradually decreases throughout the intervention. The concentration determined at the end of the intervention was higher than the minimum inhibitory concentration required for the antibiotic studied. In conclusion, the use of a tourniquet does not increase the risk of infection. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

Administration of FTY720 during Tourniquet-Induced Limb Ischemia Reperfusion Injury Attenuates Systemic Inflammation

Directory of Open Access Journals (Sweden)

Anthony D. Foster

2017-01-01

Full Text Available Acute ischemia-reperfusion injury (IRI of the extremities leads to local and systemic inflammatory changes which can hinder limb function and can be life threatening. This study examined whether the administration of the T-cell sequestration agent, FTY720, following hind limb tourniquet-induced skeletal muscle IRI in a rat model would attenuate systemic inflammation and multiple end organ injury. Sprague-Dawley rats were subjected to 1 hr of ischemia via application of a rubber band tourniquet. Animals were randomized to receive an intravenous bolus of either vehicle control or FTY720 15 min after band placement. Rats (n=10/time point were euthanized at 6, 24, and 72 hr post-IRI. Peripheral blood as well as lung, liver, kidney, and ischemic muscle tissue was analyzed and compared between groups. FTY720 treatment markedly decreased the number of peripheral blood T cells (p<0.05 resulting in a decreased systemic inflammatory response and lower serum creatinine levels and had a modest but significant effect in decreasing the transcription of injury-associated target genes in multiple end organs. These findings suggest that early intervention with FTY720 may benefit the treatment of IRI of the limb. Further preclinical studies are necessary to characterize the short-term and long-term beneficial effects of FTY720 following tourniquet-induced IRI.

The effect of tourniquet deflation on hemodynamics and regional cerebral oxygen saturation in aged patients undergoing total knee replacement surgery

OpenAIRE

Song, Inkyung; Kim, Dong Yeon; Kim, Youn Jin

2012-01-01

Background Inflation and deflation of a pneumatic tourniquet used in total knee replacement surgery induces various changes in patient's hemodynamic and metabolic status, which may result in serious complications, especially in aged patients. Near-infrared spectroscopy (NIRS) is a monitoring device designed to estimate the regional cerebral oxygen saturation. We evaluated the effect of tourniquet deflation on hemodynamics and regional cerebral oxygen saturation in aged patients undergoing tot...

Influence of the pneumatic tourniquet on patella tracking in total knee arthroplasty: a prospective randomized study in 100 patients

DEFF Research Database (Denmark)

Husted, Henrik; Toftgaard Jensen, T

2005-01-01

One hundred consecutive patients with osteoarthritis of the knee joint and scheduled for primary total knee arthroplasty performed in a bloodless field were prospectively randomized to have the tourniquet inflated on either straight leg or maximally flexed knee. There was no difference in the num...... deflation led to better patella tracking and saved 5 (31%) of 16 releases with no difference between groups. We recommend tourniquet deflation and reevaluation of patella tracking before performing lateral release in patellar maltracking....

Tourniquet-induced ischaemia-reperfusion injury: the comparison of antioxidative effects of small-dose propofol and ketamine

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Karaca Omer

Full Text Available Abstract Objectives: The aim of the present study was to investigate the preventive effects of propofol and ketamine as small dose sedation during spinal anaesthesia on tourniquet-induced ischaemia-reperfusion injury. Methods: 30 patients were randomly assigned into two groups of 15 patients. In the propofol group, sedation was performed with propofol 0.2 mg·kg-1 followed by infusion at a rate of 2 mg·kg-1·h-1. In the ketamine group, a continuous infusion of ketamine 0.5 mg·kg-1·h-1 was used until the end of surgery. Intravenous administration of midazolam was not used in any patients. Ramsay sedation scale was used for assessing the sedation level. Venous blood samples were obtained before propofol and ketamine infusion (T1, at 30 minutes (min of tourniquet ischaemia (T2, and 5 min after tourniquet deflation (T3 for malondialdehyde (MDA measurements. Results: No differences were noted between the groups in haemodynamic (p > 0.05 and demographic data (p > 0.05. There was no statistically significant difference between the two groups in terms of T1, T2 and T3 periods (p > 0.05. There was a statistically increase observed in MDA values respectively both in Group P and Group K between the reperfusion period (1.95 ± 0.59, 2.31 ± 0.48 and pre-ischaemia (1.41 ± 0.38, 1.54 ± 0.45, and ischaemia (1.76 ± 0.70, 1.71 ± 0.38 (µmoL-1 periods (p < 0.05. Conclusions: Small-dose propofol and ketamine has similar potential to reduce the oxidative stress caused by tourniquet-induced ischaemia-reperfusion injury in patients undergoing arthroscopic knee surgery under spinal anaesthesia.

Hepatopulmonary syndrome: a case report

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Huurnink, Arnold

2015-01-01

Huurnink A, Van den Berg CHSB, Booij J. Hepatopulmonary syndrome: a case report. Hepatopulmonary syndrome is characterised by a lowered oxygenation caused by intrapulmonary vascular dilatation in the setting of a liver disease. We present a case of a 42-year old woman with a Budd-Chiari syndrome,

Tourniquet-induced cardiovascular responses in anterior cruciate ligament reconstruction surgery under general anesthesia: Effect of preoperative oral amantadine

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Ashraf Abd Elmawgood

2015-01-01

Conclusion: Preoperative oral amantadine reduced tourniquet induced hypertension and postoperative analgesic requirements in anterior cruciate ligament reconstruction surgery under general anesthesia.

Comparative analysis of pain in patients who underwent total knee replacement regarding the tourniquet pressure

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Marcos George de Souza Leão

Full Text Available ABSTRACT OBJECTIVES: To evaluate through the visual analog scale (VAS the pain in patients undergoing total knee replacement (TKR with different pressures of the pneumatic tourniquet. METHODS: An observational, randomized, descriptive study on an analytical basis, with 60 patients who underwent TKR, divided into two groups, which were matched: a group where TKR was performed with tourniquet pressures of 350 mmHg (standard and the other with systolic blood pressure plus 100 mmHg (P + 100. These patients had their pain assessed by VAS at 48 h, and at the 5th and 15th days after procedure. Secondarily, the following were also measured: range of motion (ROM, complications, and blood drainage volume in each group; the data were subjected to statistical analysis. RESULTS: After data analysis, there was no statistical difference regarding the incidence of complications (p = 0.612, ROM (p = 0.202, bleeding after 24 and 48 h (p = 0.432 and p = 0.254 or in relation to VAS. No correlation was observed between time of ischemia compared to VAS and bleeding. CONCLUSIONS: The use of the pneumatic tourniquet pressure at 350 mmHg or systolic blood pressure plus 100 mmHg did not influence the pain, blood loss, ROM, and complications. Therefore the pressures at these levels are safe and do not change the surgery outcomes; the time of ischemia must be closely observed to avoid major complications.

Bertolotti's syndrome: a case report.

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Mitra, Raj; Carlisle, Mark

2009-01-01

A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

Differential increases in blood flow velocity in the middle cerebral artery after tourniquet deflation during sevoflurane, isoflurane or propofol anaesthesia.

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Kadoi, Y; Kawauchi, C H; Ide, M; Saito, S; Mizutani, A

2009-07-01

The purpose of this study was to examine the comparative effects of sevoflurane, isoflurane or propofol on cerebral blood flow velocity after tourniquet deflation during orthopaedic surgery. Thirty patients undergoing elective orthopaedic surgery were randomly divided into sevoflurane, isoflurane and propofol groups. Anaesthesia was maintained with sevoflurane, isoflurane or propofol infusion in 33% oxygen and 67% nitrous oxide, in whatever concentrations were necessary to keep bispectral index values between 45 and 50. Ventilatory rate or tidal volume was adjusted to target PaCO2 of 35 mmHg. A 2.0 MHz transcranial Doppler probe was attached to the patient's head at the temporal window and mean blood flow velocity in the middle cerebral artery was continuously measured. The extremity was exsanguinated with an Esmarch bandage and the pneumatic tourniquet was inflated to a pressure of 450 mmHg. Arterial blood pressure, heart rate, velocity in the middle cerebral artery and arterial blood gas analysis were measured every minute for 10 minutes after release of the tourniquet in all three groups. Velocity in the middle cerebral artery in the three groups increased for five minutes after tourniquet deflation. Because of the different cerebrovascular effects of the three agents, the degree of increase in flow velocity in the isoflurane group was greater than in the other two groups, the change in flow velocity in the propofol group being the lowest (at three minutes after deflation 40 +/- 7%, 32 +/- 6% and 28 +/- 10% in the isoflurane, sevoflurane and propofol groups respectively, P < 0.05).

A comparison between tourniquet application and epinephrine injection for hemostasis during hypospadias surgery: The effect on bleeding and postoperative outcome.

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Alizadeh, F; Fakoor, A; Haghdani, S

2016-06-01

To compare tourniquet application and epinephrine injection for hemostasis during hypospadias surgery in terms of bleeding and complications. Between April 2013 and September 2014, patients who were admitted for hypospadias repair were divided by random allocation into either a diluted epinephrine injection (DE) group or tourniquet application (T) group for hemostasis during the procedure. In the T group, a rubber band was applied at the base of the penis after skin dissection, and in the DE group, epinephrine 1/100,000 was injected along the incision lines. The patients' ages, urethral defect lengths, pre-operative, intraoperative and postoperative variables were compared between the two groups. A total of 70 patients (35 in each group) were enrolled into the study. The mean ages and preoperative variables were not significantly different. Average blood loss was 23.51 ± 15.36 cc in the tourniquet group and 15.99 ± 10.00 cc in the epinephrine group, and was significantly higher in tourniquet group (P = 0.022); however, the mean operative time was not significantly different. Postoperative complications, described as Clavian classification, were reported in eight patients (23%) in the T group and 10 patients (30%) in the DE group, which was not significantly different. Epinephrine injections minimize operative bleeding without significant harmful effects on postoperative outcomes; therefore, it could be considered to be a safe and effective method for preparation of a bloodless field during hypospadias surgery. Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

The effect of lidocaine on in vitro neutrophil and endothelial adhesion molecule expression induced by plasma obtained during tourniquet-induced ischaemia and reperfusion.

LENUS (Irish Health Repository)

Lan, W

2012-02-03

BACKGROUND: Changes in neutrophil and endothelial adhesion molecule expression occur during perioperative ischaemia and reperfusion (I\\/R) injury. We investigated the effects of lidocaine on neutrophil-independent changes in neutrophil and endothelial adhesion molecule expression associated with tourniquet-induced I\\/R. METHODS: Plasma was obtained from venous blood samples (tourniquet arm) taken before (baseline), during, 15 min, 2 and 24 h following tourniquet release in seven patients undergoing elective upper limb surgery with tourniquet application. Isolated neutrophils from healthy volunteers (n = 7) were pretreated in the presence or absence of lidocaine (0.005, 0.05 and 0.5 mg mL(-1) for 1 h, and then incubated with I\\/R plasma for 2 h. Human umbilical vein endothelial cells (HUVECs) were pretreated in the presence or absence of lidocaine (0.005, 0.05 and 0.5 mg mL(-1)) for 1 h, and then incubated with the plasma for 4 h. Adhesion molecule expression was estimated using flow cytometry. Data were analysed using ANOVA and post hoc Student-Newman-Keuls tests. RESULTS: I\\/R plasma (withdrawn 15 min following tourniquet release) increased isolated neutrophil CD11b (P = 0.03), CD18 (P = 0.01) and endothelial intercellular adhesion molecule-1 (ICAM-1) (P = 0.008) expression compared to baseline. CD11b, CD18 and ICAM-1 expression on lidocaine (0.005 mg mL(-1)) treated neutrophils was similar to control. CD11b (P < 0.001), CD18 (P = 0.03) and ICAM-1 (P = 0.002) expression on lidocaine (0.05 mg mL(-1)) treated neutrophils and HUVECs was less than that on controls. CONCLUSION: Increased in vitro neutrophil and endothelial cell adhesion molecule expression on exposure to plasma obtained during the early reperfusion phase is diminished by lidocaine at greater than clinically relevant plasma concentrations.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

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Shukla Umesh

2010-11-01

Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

[Williams-Beuren syndrome (Williams syndrome). Case report].

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Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

2017-11-01

Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

Waardenburg syndrome: A rare case

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Shivlal M Rawlani

2018-01-01

Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

An evaluation of combat application tourniquets on training military personnel: changes in application times and success rates in three successive phases.

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Unlu, Aytekin; Kaya, E; Guvenc, I; Kaymak, S; Cetinkaya, R A; Lapsekili, E O; Ozer, M T; Guler, A; Yildiz, R; Petrone, P; Harlak, A; Kilic, S

2015-12-01

Haemorrhage from the injured extremity is a significant cause of preventable death in military settings. This study evaluated the effect of training on the efficacy of the combat application tourniquet (CAT) and to define standards for military personnel. Participants from a training tank battalion were randomised. Data collected included age, body mass index, mean arterial pressure, hand dominance, femoral artery diameter and skin thickness. The study involved tourniquet application times (AT) and application success rates in basic, after-training and eyes-closed phases. Doppler ultrasound was used to identify the presence or absence of popliteal, radial and ulnar artery pulses. A total of 102 trainees participated. In the after-training phase, the left and right upper extremity ATs were 35 ± 13.1 s, and 34.8 ± 13.5 s and the right and left lower extremity ATs were 20.6 ± 6.0 s and 20.5 ± 5.5 s, respectively. The overall tourniquet success rates in three successive study phases were 69.6%, 82.4% and 91.2%, respectively. A negative significant relationship was found between extremity circumference and tourniquet success. The results show that the efficacy of CAT application increases with training. Further studies are required to investigate the reasons underlying application failures. This single group prospective randomised study involves level of evidence 4. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

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Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Idiopathic Harlequin syndrome – case report

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Marcelina Grochowiec

2015-09-01

Full Text Available Introduction. Harlequin syndrome is a very rare neurological condition characterized by redness and excessive sweating of one half of the face in response to exercise and emotions. In most cases this disorder is not life-threatening. Objective. To present diagnostic difficulties of Harlequin syndrome in dermatological practice. Case report. We present a case of a 30-year-old man with redness and excessive sweating of the right half of the face as a result of exercise that was observed during the diagnosis of chronic urticaria at the Department of Dermatology. The patient was examined ophthalmologically and neurologically, had a CT scan of the head, and the Minor test performed. Idiopathic Harlequin syndrome was diagnosed based on case history and workup results. Conclusions . Harlequin syndrome occurs most often in the form of an idiopathic condition, but neurologic and ophthalmologic assessment should be performed since some diseases, such as brainstem infarction and schwannoma of the upper chest, may initially appear as Harlequin syndrome.

Preliminary Measures of Instructor Learning in Teaching Junctional Tourniquet Users.

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Kragh, John F; Aden, James K; Shackelford, Stacy; Dubick, Michael A

2016-01-01

The objective of the present study was to assess the effect of instructor learning on student performance in use of junctional tourniquets. From a convenience sample of data available after another study, we used a manikin for assessment of control of bleeding from a right groin gunshot wound. Blood loss was measured by the instructor while training users. The data set represented a group of 30 persons taught one at a time. The first measure was a plot of mean blood loss volumes for the sequential users. The second measure was a plot of the cumulative sum (CUSUM) of mean blood loss (BL) volumes for users. Mean blood loss trended down as the instructor gained experience with each newly instructed user. User performance continually improved as the instructor gained more experience with teaching. No plateau effect was observed within the 30 users. The CUSUM plot illustrated a turning point or cusp at the seventh user. The prior portion of the plot (users 1-7) had the greatest improvement; performance did not improve as much thereafter. The improvement after the seventh user was the only change detected in the instructor's trend of performance. The instructor's teaching experience appeared to directly affect user performance; in a model of junctional hemorrhage, the volume of blood loss from the manikin during junctional tourniquet placement was a useful metric of instructor learning. The CUSUM technique detected a small but meaningful change in trend where the instructor learning curve was greatest while working with the first seven users. 2016.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Science.gov (United States)

Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

2010-11-08

We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

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Hazza Issa

1999-01-01

Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

[Pseudo-Bartter syndrome--2 cases].

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Jóźwiak, Lucyna; Jaroszyński, Andrzej; Baranowicz-Gaszczyk, Iwona; Borowicz, Ewa; Ksiazek, Andrzej

2010-01-01

Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.

[Gorlin-Goltz syndrome--a case report].

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Debski, Tomasz; Jethon, Józef

2010-06-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

Rare case of nephrotic syndrome: Schimke syndrome.

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Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

2016-01-01

Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

Hermansky-Pudlak syndrome; a Case Report

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Abbas Bagheri

2010-01-01

Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

[Two cases of Costello syndrome].

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Masuyama, Tatsuo; Matsuo, Muneaki; Kuno, Tateo; Kitsuki, Kyoko; Kan, Yuka; Ishii, Kiyohisa; Ohtani, Yoshinobu

2003-01-01

We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus.

[Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

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Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

2006-01-01

We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

Apert Syndrome: A Case Report

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Masoud Gharib

2012-10-01

Full Text Available Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parent's quality of life.We report a case of Apert syndrome and his occupational therapy program.

Pulseless electrical activity during electroconvulsive therapy: a case report

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Kalava Arun

2012-05-01

Full Text Available Abstract Background Arrhythmias resulting in cardiac arrest during electroconvulsive therapy have been reported. Most reported cases of cardiac arrest had asystole as the initial rhythm. Pulseless electrical activity as an initial rhythm of cardiac arrest during electroconvulsive therapy has never been reported. Also, thromboembolism after inflation of pneumatic tourniquet during lower limb surgery has been reported but never following tourniquet inflation during an electroconvulsive therapy. Case presentation We report a case involving an 81- year- old female who presented to us for an electroconvulsive therapy for severe depression and developed pulseless electrical activity immediately after electroconvulsive therapy. She was successfully resuscitated and was later found to have bilateral pulmonary emboli with a complete occlusion of the right lower lobe pulmonary artery. The source of embolus was from her left lower extremity deep venous thrombus, which we believe, got dislodged intraoperatively after inflation of pneumatic tourniquet. Our patient not only survived the massive pulmonary embolus, but also showed significant improvement in her mental status compared to her pre-admission level at the time of discharge to a sub-acute rehabilitation centre. Conclusion We recommend that patients who are elderly and at high risk of thromboembolism should selectively undergo a preoperative doppler ultrasound for deep venous thrombosis. Also, selective application of tourniquet in the upper limb, to monitor for seizure activity, would reduce the incidence of pulmonary thrombo-embolism as embolic events are significantly less from deep venous thromboses of upper extremities when compared to lower extremities.

[Occupational carpal tunnel syndrome: 27 cases].

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Slimane, Neila Ben; Elleuch, Mohamed; Gharbi, Ezzedine; Babay, Habib; Hamdoun, Moncef

2010-09-01

Carpal tunnel syndrome is the most frequent of tunnel syndromes in the field of the professional sphere. It is related to repetitive movements of flexion-extension of the wrist and fingers or to a support on the heel of the hands. To determine the posts in a risk and to specify the modalities of guaranteed reimbursement of professional carpal tunnel syndrome. A retrospective and descriptive study of 27 medical files of employees indemnified for professional carpal tunnel syndrome registered in the medical control services of the social security office in charge of medical insurance of Tunis and Sousse during a period of 10 years (1995-2004). There were 24 women and 3 men with the average age of 40 years all occupying posts in a risk. Their average time of service is 15 years. Tow-thirds of them work in the clothing and textile industry. The attack is bilateral in 13 cases. Nightly acroparaesthesia rules the clinical rate (44.44% of cases). Motor disorders are noted in the quarter of cases. The electromyogram had confirmed diagnosis in all of cases. The previous state study put in evidence the antecedent of carpal tunnel syndrome in 5 cases and diabetes in one case. Twenty-one patients had profit of permanent partial incapacity with a rate varying from 3 to 25%. Five had got a transfer of working place and one stayed in the same post with a half-time work. The professional origin of carpal tunnel syndrome must be called up in front of an activity in a risk. The reparation is done according to picture 82 of occupational diseases.

A Case: Eight-and-A-Half Syndrome

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Cennet Nalan Kuş

2007-12-01

Full Text Available Scientific BACKGROUND: The combination of clinical one-and-a-half syndrome together with cranial nerve VII palsy is known to as eight-and-a-half syndrome. It localized the pathology to the pons. OBJECTIVE: To report a case having clinical and radiologic findings typical of eight-and-a-half syndrome. CASE: 65 year old man with hypertension presented with sudden onset of binocular diplopia left facial weakness. Magnetic resonance imaging demostrated a small lesion in the left paramedian pontine tegmentum. CONCLUSION: To our knowledge, this is the first report of a case of eight-and-a-half syndrome in Turkish literature

Varicose vein surgery using a pneumatic tourniquet: reduced blood loss and improved cosmesis.

OpenAIRE

Thompson, J. F.; Royle, G. T.; Farrands, P. A.; Najmaldin, A.; Clifford, P. C.; Webster, J. H.

1990-01-01

A prospective controlled randomised study has been performed of 100 consecutive patients undergoing varicose vein surgery. One group underwent saphenofemoral flush ligation and multiple lower leg avulsions with the leg exsanguinated with a Rhys-Davies cuff, and ischaemia maintained with a pneumatic tourniquet. The other group underwent identical surgery but with a 30 degree head down tilt only. Blood loss was significantly less (13.5 +/- 12 ml vs 133 +/- 78 ml; P less than 0.01) and postopera...

Mills’ syndrome: a case report

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Fábio Henrique de Gobbi Porto

2009-11-01

Full Text Available The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical examination only. We can find this clinical presentation (Mills syndrome in cases of amyotrophic lateral sclerosis (ALS, predominant upper motor neuron amyotrophic lateral sclerosis (UMN-ALS and primary lateral sclerosis (PLS, besides its symptomatic (secondary forms. We describe a case (initial presentation and one year follow-up of progressive ascending hemiplegia with clinical isolated upper neuron signs and normal sensory examination, discussing its nosological status, electromyographic findings, differential diagnosis and prognosis.

A Case of Classic Raymond Syndrome

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Nicholas George Zaorsky

2012-01-01

Full Text Available Classic Raymond syndrome consists of ipsilateral abducens impairment, contralateral central facial paresis, and contralateral hemiparesis. However, subsequent clinical observations argued on the presentation of facial involvement. To validate this entity, we present a case of classic Raymond syndrome with contralateral facial paresis. A 50 year-old man experienced acute onset of horizontal diplopia, left mouth drooling and left-sided weakness. Neurological examination showed he had right abducens nerve palsy, left-sided paresis of the lower part of the face and limbs, and left hyperreflexia. A brain MRI showed a subacute infarct in the right mid-pons. The findings were consistent with those of classic Raymond syndrome. To date, only a few cases of Raymond syndrome, commonly without facial involvement, have been reported. Our case is a validation of classic Raymond syndrome with contralateral facial paresis. We propose the concept of two types of Raymond syndrome: (1 the classic type, which may be produced by a lesion in the mid-pons involving the ipsilateral abducens fascicle and undecussated corticofacial and corticospinal fibers; and (2 the common type, which may be produced by a lesion involving the ipsilateral abducens fascicle and undecussated corticospinal fibers but sparing the corticofacial fibers.

Boerhaave syndrome - case report

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Biljana Radovanovic Dinic

Full Text Available ABSTRACT CONTEXT: Boerhaave syndrome consists of spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. It generally develops during or after persistent vomiting as a consequence of a sudden increase in intraluminal pressure in the esophagus. It is extremely rare in clinical practice. In 50% of the cases, it is manifested by Mackler's triad: vomiting, lower thoracic pain and subcutaneous emphysema. Hematemesis is an uncommon yet challenging presentation of Boerhaave's syndrome. Compared with ruptures of other parts of the digestive tract, spontaneous rupture is characterized by a higher mortality rate. CASE REPORT: This paper presents a 64-year-old female patient whose vomit was black four days before examination and became bloody on the day of the examination. Her symptoms included epigastric pain and suffocation. Physical examination showed hypotension, tachycardia, dyspnea and a swollen and painful abdomen. Auscultation showed lateral crackling sounds on inspiration. Ultrasound examination showed a distended stomach filled with fluid. Over 1000 ml of fresh blood was extracted by means of nasogastric suction. Esophagogastroduodenoscopy was discontinued immediately upon entering the proximal esophagus, where a large amount of fresh blood was observed. The patient was sent for emergency abdominal surgery, during which she died. An autopsy established a diagnosis of Boerhaave syndrome and ulceration in the duodenal bulb. CONCLUSION: Boerhaave syndrome should be considered in all cases with a combination of gastrointestinal symptoms (especially epigastric pain and vomiting and pulmonary signs and symptoms (especially suffocation.

Four therapeutic cases of RS3PE syndrome

International Nuclear Information System (INIS)

Nakajima, Naoya; Fukuda, Yukiko; Yang, Kwang-Seok; Aiba, Miyoji; Tsuda, Hiroshi

2007-01-01

RS3PE syndrome (Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome) is one of the disorders which present as polyarthritis. It is important to be aware of RS3PE syndrome when encountering elderly patients with polyarthritis who are negative for rheumatoid factor. We report 4 cases of RS3PE syndrome. All cases shared common clinical findings, such as acute onset, symmetrical polyarthritis, pitting edema of the hands and feet, and being negative for rheumatoid factor in serum. Treatment with corticosteroid was very effective in all cases. However, two patients showed a deteriorated clinical condition during the tapering of corticosteroid. Corticosteroid should be tapered off cautiously in patients with RS3PE syndrome. (author)

A case of Cronkhite-Canada syndrome

International Nuclear Information System (INIS)

Hirohama, Shigeo; Soedjaro; Machida, Takashi

1985-01-01

A 75-year-old woman with Cronkhite-Canada syndrome underwent computed tomography (CT) and ultrasonography (US). CT and US provided useful information on pathologic conditions, including edema of the digestive mucosa, which characterize this syndrome. Clinical analysis of this syndrome in 77 Japanese cases reported in the literature was presented. (Namekawa, K.)

[Jerusalem syndrome - a case report].

Science.gov (United States)

Poleszczyk, Anna; Swiecicki, Łukasz

2013-01-01

The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

Gorlin syndrome: A case report

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Patil K

2005-01-01

Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

Neuroleptic malignant syndrome (a case report.

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Patkar A

1991-07-01

Full Text Available An adult schizophrenic patient developed neuroleptic malignant syndrome following treatment with parenteral haloperidol. An early recognition of the syndrome, immediate discontinuation of the offending agent and prompt treatment with bromocriptine and lorazepam produced a good recovery. The various features of the case are discussed in view of the potential lethality of the syndrome.

Mills’ syndrome: case report

OpenAIRE

Henrique de Gobbi Porto, Fábio; Orsini, Marco; Antônio Araújo Leite, Marco; Moreira dos Santos, José; Pulier, Soraia; Mello, Mariana; Nascimento, Osvaldo J.M.

2009-01-01

The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical ...

Meckel Gruber Syndrome: A Case Report

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Celal Devecioglu

2004-01-01

Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

Lemierre syndrome: two cases and a review.

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Syed, Mohammed Iqbal; Baring, David; Addidle, Michael; Murray, Craig; Adams, Calum

2007-09-01

Lemierre syndrome is usually caused by an acute oropharyngeal infection in previously healthy young adults, resulting in thrombophlebitis of the internal jugular vein, leading to metastatic septic embolization and bacteraemia. The usual organism is Fusobacterium necrophorum. Lemierre syndrome, not so long ago labeled as the "forgotten disease," is on the rise. Today with increasing antibiotic-resistant organisms, and decreasing awareness of the syndrome, subsequent re-emergence of this "forgotten disease" is becoming more common in clinical settings. Lemierre syndrome has significant morbidity. Cranial nerve complications associated with the condition have been increasingly diagnosed in the last few years. Looking back at literature on Lemierre syndrome, there have been review articles in medical and microbiology journals but rarely in otolaryngology journals. By presenting our cases we demonstrate the diverse presentations and severity of the illness. A review of the literature and a case report on two cases seen in our institution in the last year are presented. Each of these had varied presentations and neurologic complications-one developed 9th to 12th cranial nerve palsies and Horner syndrome, which have not been described in previous literature, and the other developed polyneuropathy and a frontal lobe infarct among other multisystem complications. Diagnosis of Lemierre syndrome is not always straightforward as clinical features are variable and blood cultures are often negative. Awareness of the syndrome and a high degree of suspicion are needed.

A CASE OF METABOLIC SYNDROME

OpenAIRE

Khoo Ee Ming; Rabia Khatoon

2006-01-01

This case report illustrates a 40-year-old woman who presented with chest discomfort that was subsequently diagnosed to have metabolic syndrome. Metabolic syndrome is a common condition associated with increased cardiovascular morbidity and mortality. As primary care providers, we should be detect this condition early, intervene and prevent appropriately before complications occur.

Bartter's syndrome: A case report of nephrocalcinosis

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KOŞAN, Celalettin

2014-01-01

Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically in patients with Barter's syndrome, this is still generally unrecognized. We reported a case of Barter's syndrome with nephrocalcinosis and discussed clinical significance of nephrocalcinosis in this syndrome.

Two cases of Cantrell's syndrome

International Nuclear Information System (INIS)

Yu, Yun Jeong; Yeon, Kyung Mo

1982-01-01

Congenital absence of the lower sternum, defect of the abdominal wall, defects of the anterior diaphragm, pericardial defects and cardiac anomalies had been described as a syndrome by Cantrell et al. Developing mechanism of the syndrome was embryologically defined. These defects arise apparently from combined anomalies of developing of the dorsal mesoderm. The authors present two cases of Cantrell's syndrome developed in one day old and eight months old female patient in which angiocardiography was done at the Department of Radiology, Seoul National University Hospital

Benedikt's Syndrome: A Rare Case Report

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Aslı Aksoy Gundogdu

2017-08-01

Full Text Available Benedikt syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

Ortner's syndrome: case series and literature review.

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Subramaniam, Vijayalakshmi; Herle, Adarsha; Mohammed, Navisha; Thahir, Muhammad

2011-01-01

More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to encompass any nonmalignant, cardiac, intrathoracic process that results in embarrassment of either recurrent laryngeal nerve-usually by stretching, pulling, or compression; and causes vocal fold paralysis. Not surprisingly, the left recurrent laryngeal nerve, with its longer course around the aortic arch, is more frequently involved than the right nerve, which passes around the subclavian artery. To discuss the pathogenesis of hoarseness resulting from cardiovascular disorders involving the recurrent laryngeal nerve along with the findings of literature review. This paper reports a series of four cases of Ortner's syndrome occurring due to different causes. Case study. Ortner's syndrome could be a cause of hoarseness of voice in patients with cardiovascular diseases. Although hoarseness of voice is frequently encountered in the Otolaryngology outpatient department, cardiovascular- related hoarseness is an unusual presentation. Indirect laryngoscopy should be routinely performed in all cases of heart disease.

Stewart-Treves syndrome: case report

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Andrade, Wesley Pereira [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Mastology Dept.], e-mail: wesley.andrade@hotmail.com; Aguiar Junior, Samuel; Lopes, Ademar [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Pelvic Surgery Dept.; Batista, Ranyell Matheus Spencer S.; Ribeiro, Marcio Ventura [Hospital A.C. Camargo, Sao Paulo, SP (Brazil)

2008-07-01

In 1948 Stewart and Treves described a syndrome related to the association between lymphangiosarcoma and chronic lymphedema due to radical mastectomy and radiotherapy. Currently, literature data reveals around 400 published cases. However, this pathology is becoming each time rarer due to the growing indication of conservative breast surgery and sentinel lymphonode research, thus reducing the need of axillary lymph node dissection with subsequent lymphedema. Described will be the case of a woman that developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy.Stewart-Treves syndrome is related to the rise of angiosarcoma in patients with chronic lymphedema. It is currently treated as a rare disease. We describe the case of a woman who developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy. (author)

Stewart-Treves syndrome: case report

International Nuclear Information System (INIS)

Andrade, Wesley Pereira

2008-01-01

In 1948 Stewart and Treves described a syndrome related to the association between lymphangiosarcoma and chronic lymphedema due to radical mastectomy and radiotherapy. Currently, literature data reveals around 400 published cases. However, this pathology is becoming each time rarer due to the growing indication of conservative breast surgery and sentinel lymphonode research, thus reducing the need of axillary lymph node dissection with subsequent lymphedema. Described will be the case of a woman that developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy.Stewart-Treves syndrome is related to the rise of angiosarcoma in patients with chronic lymphedema. It is currently treated as a rare disease. We describe the case of a woman who developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy. (author)

Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome

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Preetha Balaji

2017-01-01

Full Text Available Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation. It has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. Various syndromes have been associated with these features such as epilepsy, mental retardation, cardiomegaly, or osteochondrodysplasia. As so far very few cases have been reported in literature, we are reporting a series of three cases with management of the same. The excess gingival tissues, in these cases, were removed by conventional gingivectomy under general anesthesia. The postoperative result was uneventful and the patient's appearance improved significantly. Good esthetic result was achieved to allow patient to practice oral hygiene measures. Though this is not a serious condition clinically, psychosocial trauma cannot be neglected owing to the cosmetic disfigurement it produces.

Chanarin Dorfman Syndrome: A Case Report

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Yasemin Ozkale

2015-09-01

Full Text Available Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings. [Cukurova Med J 2015; 40(3.000: 614-618

NOONAN SYNDROME – CASE REPORT

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Milena Vujanović

2014-06-01

Full Text Available Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnormalities, congenital heart defects and urogenital malformations. Ocular changes occur in 95% of patients and usually include hypertelorism, ptosis, refractive errors, strabismus, amblyopia, rarely nystagmus, colobomas, cataracts, optic nerve drusen. Case report: We present a case of a boy, 10 months old, referred by the pediatrician because of strabismus. During the general examination of the head and face, we noted that the ears were low-set, and the lower jaw was slightly smaller. Ophthalmological examination revealed hypertelorism, left eye esotropia, hyperopia, and optic disc pit. Other associated malformations were: dilatation of both pyelons, cryptorchidism, pulmonary stenosis. Genetic analysis confirmed the diagnosis of Noonan syndrome. The variety of clinical manifestations of this syndrome indicates that a multidisciplinary approach is necessary for diagnosis, treatment, and follow-up of these patients.

Pfeiffer syndrome type 2: case report

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Maria Kiyoko Oyamada

Full Text Available OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

Gorlin-goltz syndrome: a rare case.

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Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Gorlin-Goltz Syndrome: A Rare Case

OpenAIRE

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, PK

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Case Report - Neonatal progeroid syndrome (Wiedemann ...

African Journals Online (AJOL)

Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin ... pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, ...

[Clinical study of 12 cases with obstetric mirror syndrome].

Science.gov (United States)

Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

2012-03-01

To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

Science.gov (United States)

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

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Е. А. Roslavtseva

2015-01-01

Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

Gorlin-Goltz syndrome: A rare case

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Satyaki Ganguly

2015-01-01

Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Reversible hemispheric hypoperfusion in two cases of SMART syndrome.

Science.gov (United States)

Wai, Karmen; Balabanski, Anna; Chia, Nicholas; Kleinig, Timothy

2017-09-01

Stroke-like migraine attacks after radiation therapy (SMART) syndrome manifests as prolonged episodes of cortical dysfunction, years after cranial irradiation. We present two cases demonstrating reversible hemispheric hypoperfusion. Case 1 presented with left hemispheric symptoms following previous similar episodes. CT perfusion (CTP) demonstrated reversible hemispheric hypoperfusion; subsequent investigations were consistent with SMART syndrome. Case 2 presented following the third episode of a hemispheric syndrome with near-identical CTP abnormalities. L-arginine was administered with rapid reversal of clinical and CTP abnormalities. We conclude that SMART syndrome may demonstrate significant hypoperfusion on hyperacute CTP without subsequent infarction. Impaired cerebrovascular autoregulation probably contributes to cortical dysfunction in SMART syndrome. L-arginine warrants investigation as a potential treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

Churg-strauss syndrome: a case report.

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Zhdan, Vyacheslav М; Kitura, Yevdokiia М; Kitura, Oksana Ye; Babanina, Maryna Yu; Tkachenko, Maksym V; Lebid, Volodymyr G

A clinical case of Churg-Strauss syndrome has been reported on the 53-year-old female patient Ts. with bronchial asthma and allergic rhinitis. The main clinical signs and syndromes depending on the stage of the disease are presented, as well as therapeutic treatment of patients with this disease.

A Case of Male Goltz Syndrome

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Bhaswati Ghoshal

2012-01-01

Full Text Available We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia, a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.

Case Report: Cervical Klippel-Feil syndrome predisposing an ...

African Journals Online (AJOL)

Case Report: Cervical Klippel-Feil syndrome predisposing an elderly African man to central cord myelopathy following minor trauma. ... unique presentation of this case of Klippel-Feil syndrome further supports the impression that following fusion (congenital or acquired) of one segment of the spinal column, hypermobility of ...

Cotard’s Syndrome: Two Cases of Self-Starvation

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Bruno Gonçalves Teixeira

2015-11-01

Full Text Available Background: Cotard´s syndrome is a relatively rare condition characterized by various degrees of nihilist delusions, often in the form of self-negation. Aims: To report two cases of Cotard’s syndrome associated with self-starvation and to review the concept and clinical features of the condition. Methods: Two clinical cases of the syndrome were obtained and a literature review of the theme was shortly surveyed. Results and Conclusions: The first case is about a woman who believed that her esophagus and stomach were glued. She was treated with sertraline, mirtazapine and risperidone with good results. The second case describes a man who believed his throat was burnt and he had no internal organs. He was treated with clomipramine and risperidone showing great improvement. This syndrome is a nosological and clinical entity that should not be forgotten. It is essential to provide an urgent and adequate therapeutic approach to these patients.

H Syndrome: A case report and review of literature

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Dilip Meena

2018-01-01

Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

H Syndrome: A Case Report and Review of Literature

Science.gov (United States)

Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

2018-01-01

H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

Vestibular dysfunction in Turner syndrome: a case report.

Science.gov (United States)

Baxter, Michael; Agrawal, Yuri

2014-02-01

Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

Science.gov (United States)

Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

2016-07-12

Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

A case of possible Kounis syndrome as a complication of scombroid syndrome

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Stefano Rusconi

2017-11-01

Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

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Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

Anophthalmia-Waardenburg syndrome: a report of three cases.

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Suyugül, Z; Seven, M; Hacihanefioğlu, S; Kartal, A; Suyugül, N; Cenani, A

1996-04-24

We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

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von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

2013-06-01

Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

Lowe syndrome: case report

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Eva Bahor

2018-03-01

Full Text Available Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation.

A fatal case of Perthes syndrome

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Jérôme Jobé

2013-01-01

Full Text Available Perthes syndrome, or traumatic asphyxia, is a clinical syndrome associating cervicofacial cyanosis with cutaneous petechial haemorrhages and subconjonctival bleeding resulting from severe sudden compressive chest trauma. Deep inspiration and a Valsalva maneuver just prior to rapid and severe chest compression, are responsible for the development of this syndrome. Current treatment is symptomatic: urgent relief of chest compression and cardiopulmonary resuscitation if needed. Outcome may be satisfactory depending on the duration and severity of compression. Prolonged thoracic compression may sometimes lead to cerebral anoxia, irreversible neurologic damage and death. We report a fatal case of Perthes syndrome resulting from an industrial accident.

Adult polysplenia syndrome. A case report

International Nuclear Information System (INIS)

Usamentiaga, E.; Garcia-Valtuille, R.; Abascal, F.; Artiz, A.

1997-01-01

Polysplenia syndrome is a rare combination of congenital anomalies. It includes in a variable range: abdominal heterotaxy with multiples splenic nodules on the right side, cardiopulmonary anomalies and incomplete development of the inferior vena cava. We present the findings of a case of polysplenia syndrome performed by CT in an Adult asyntomatic patient. 11 refs

Tropical diabetic hand syndrome: a case report.

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Yeika, Eugene Vernyuy; Tchoumi Tantchou, Jacques Cabral; Foryoung, Joyce Bei; Tolefac, Paul Nkemtendong; Efie, Derrick Tembi; Choukem, Siméon Pierre

2017-02-13

Tropical diabetic hand syndrome describes a complex hand sepsis affecting patients with diabetes across the tropics and often results from a trivial hand trauma. The clinical presentation of this syndrome is variable and ranges from localised swelling and cellulitis, with or without ulceration of the hand to progressive fulminant hand sepsis, and gangrene affecting the entire limb which may be fatal. Tropical diabetic hand syndrome could lead to permanent disability and death as a result of delay in presentation, late diagnosis and late medical and surgical intervention. This indexed case acts as an eye opener for physicians to the existence of this hand sepsis. We report the case of a 57 year-old black African female diabetic who was referred to our centre for the management of a suppurating ulcer and swelling of the left hand of two weeks duration. On examination and work-up, the patient was found to have Lawal Group III left diabetic hand syndrome and was managed with parenteral antibiotics, radical debridement and the hand was eventually amputated. She died 7 days following amputation from overwhelming sepsis. Though tropical diabetic hand syndrome is a relatively rare complication of diabetes, it can be fatal as in this case report. Early diagnosis and proper management would yield better outcome. Initial management should include aggressive intravenous broad-spectrum antibiotics with anaerobic coverage. Classification of tropical diabetic hand syndrome will assist physicians and surgeons in decision making, proper management and easy communication.

[Usher syndrome: about a case].

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Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

2017-01-01

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

Tietze's syndrome: case report and literature review | Chuhwak ...

African Journals Online (AJOL)

The case report is on Tietze's syndrome – a disorder that is quite rare. Costochondritis has been thought to be synonymous with Tietze's syndrome until recently [2002] when costochondritis was differentiated from Tietze's syndrome. Costochondritis is inflammation of the costochondral joints without swelling. Tietze's ...

Case Of Iatrogenic Cushing's Syndrome By Topical Triamcinolone.

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Zil-E-Ali, Ahsan; Janjua, Omer Hanif; Latif, Aiza; Aadil, Muhammad

2018-01-01

Cushing's syndrome is a collection of signs and symptoms due to hypercortisolism. Prolong use of topical steroid may cause this syndrome and suppression of hypothalamic and pituitary function, however such events are more common with oral and parenteral route. There are very few cases of Cushing's syndrome with a topical application amongst which triamcinolone is the rarest drug. We report a case of 11-year-old boy is presented who developed Cushing's disease by topical application. The child had body rashes for which the caregiver consulted a local quack, a topical cream of triamcinolone was prescribed. After application for three months, the patient became obese and developed a moon-like face. A thorough biochemical workup and diagnostic test for Cushing's disease was done to confirm. The following case report a dramatic example of development of the syndrome from chronic topical application of the least potent corticosteroid.

Stylocarotid syndrome: A case report

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Petrović Branko

2008-01-01

Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

Case Report: A Rare Case Report of Frontal Lobe Syndrome

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Morteza Nouri- Khajavi

2003-04-01

Full Text Available The frontal lobe syndrome is a permanent personality change disorder with characteristic clinical pictures, which followed by frontal lobes damage. Clinical picture include: Affective instability, recurrent aggressive behavior, impaired social judgment, apathy and undifferentiating or suspiciousness and paranoid ideations. According DSM-IV classification frontal lobe syndrome named personality change due to head trauma on Axis I. Herein we report a case of 46 years-old man, who has developed behavioral disturbances following head trauma, about 10 years ago. Main clinical figures in this case are apathy, avolition and, undifferentiating. Clinical pictures are constant during these 10 years. The diagnostic approach has been based on patient’s problems history which, has taken from his family, mental status examination, Neurological examination, Brain imaging and Neuropsychological assessments which related to frontal lobes function. Because of rarity & neglection due to mysterious function of frontal lobes, and also considering that personality change from previous level is prominent figure of this syndrome and also brain imaging findings, which compatible with clinical findings, with this aim, we have reported this case.

CLINICAL CASE OF PARKES-WEBER-RUBASHOV SYNDROME

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Zhdonec S. V.

2018-03-01

Full Text Available A clinical case of one variant of congenital venous angiodysplasia – Parkes Weber-Rubashov syndrome of the right lower extremity is presented in the article. The features of its clinical presentation and diagnosis difficulties are described. The analysis of the scientific data and own clinical observation showed that Parkes Weber-Rubashov syndrome belongs to the rare congenital disease of the vascular system, in some cases with the absence of typical clinical manifestations and combination with other disorders of the venous system. The best method for diagnosing the syndrome is radiopaque arteriography. The separation of the patent’s arteriovenous fistulas is justified as a radical method of its surgical treatment.

CASE REPORT Moebius syndrome with macular hyperpigmentation ...

African Journals Online (AJOL)

Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; ...

Marshall-smith syndrome: case report

International Nuclear Information System (INIS)

Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

2002-01-01

Marshall-smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-smith syndrome is as, for as we know, the first to be published in Korea

Marshall-Smith syndrome: case report

International Nuclear Information System (INIS)

Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

2002-01-01

Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea

Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

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Xie Ying

2012-05-01

Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

Seckel syndrome: a report of a case.

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Ramalingam, K; Kaliyamurthy, S D; Govindarajan, M; Swathi, S

2012-01-01

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

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P K Shivaprakash

2012-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

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Shukla Umesh; Yadav Dinesh K; Goyal Deepak; Sethi Sidharth K

2010-01-01

Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic...

Atypical presentation of HELLP syndrome: clinical case report

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Juan Manuel Tobar Parra

2017-12-01

Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

Sjogren’s syndrome: a case report

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Sunata, A.; Marpaung, B.

2018-03-01

The incidence of Sjogren’s Syndrome was estimated 4 in 100.000 of these cases with the prevalence is 0.2% to 2.7% of the population. Predominant sex female/male ratio is approximately 10:1 with peak incidence is in the fourth and fifth decade. A 29-year-old woman had dry eyes and recurrent sensation of sand in the eyes for two years. Schimmer’s test was positive ≤5mm in 5 minutes both, and the autoantibodies SSA and SSB were positive. Without history head or neck radiation and the result of laboratory examination hepatitis C and HIV negative. Until now there is no satisfying therapy for Sjogren Syndrome, only supportive specific to symptomatic can be treated. We reported a case of Sjogren Syndrome with dry eyes symptom, polyathralgia, and fatigue. Muscarinic agonist pilocarpine 5mg PO qid and hydroxychloroquine were given.

Usher's syndrome--case report.

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Kwiecień, Sława; Sulak, Robert; Szaflik, Jerzy

2008-01-01

The aim of this study is to present a case of coincidence of sensorineural hearing loss with chronic recurrent bilateral cystoid macular oedema in a 32-year-old woman, who was admitted to the clinic for deterioration of visual acuity of four months' duration. The patient gave a history of hearing loss for 29 years. Visual field examination disclosed peripheral ring scotoma. Electrophysiological examination was performed: pattern visual evoked response was within normal limits and electroretinogram displayed diminished both photopic and scotopic response. As ophthalmoscopy demonstrated no pigment in the fundus of the eye, the findings were consisted with diagnosis of retinitis pigmentosis sine pigmento. The presence of loss of hearing indicated the necessity of performing the genetic examination for Usher's syndrome. In order to establish a final diagnosis of Usher's syndrome genetic examination must be performed, but family history is relevant. Early investigation for Usher's syndrome in children with sensorineural hearing impairment is of a great significance. The patient may develop symptoms of retinitis pigmentosa in second or even third decade of his life. The necessity of thorough investigation for detecting other systemic abnormalities should be emphasized. There is no effective treatment of this syndrome. A child with Usher's syndrome requires a comprehensive care of different medical specialties. Psychological, educational and sociological attitude is also of a great importance in the child development.

Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review.

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Coffino, Samantha W; Fryer, Robert H

2017-06-01

Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases. In the pediatric group, reported potential triggers include trauma (1/13), exercise (2/13), water to the face (3/13), hypertension (3/13), and medication or substance use (4/13). One surprising difference is that 11 out of 13 pediatric patients with reversible cerebral vasoconstriction syndrome are male while most cases in adults are female. Many of the pediatric patients with reversible cerebral vasoconstriction syndrome were treated with a calcium channel blocker and the overall outcome of pediatric reversible cerebral vasoconstriction syndrome was good, with most patients experiencing a full recovery.

Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

Science.gov (United States)

Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

2016-01-01

To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

A Case of Wolfram Syndrome

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Gholamali Naderian

2010-01-01

Full Text Available Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity. Conclusion: One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

Klippel-Trenaunay-Weber Syndrome:A case report

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Ryu, Kyung Nam; Lee, Sun Wha; Yoon, Yup; Lim, Jae Hoon [Kyung Hee University Hopital, Seoul (Korea, Republic of)

1990-10-15

The Klippel-Trenauna-Weber Syndrome is characterized by a classical triad that includes unilateral cutaneous capillary hemangiomas, varicose veins, and local gigantism with both soft tissue and osseous overgrowth. Authors have experience on case of Klippel-Trenaunay-Weber Syndrome with hemangiomas of ipsilateral scrotum and foot.

Waardenburg syndrome: A report of three cases

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Ghosh Sudip

2010-01-01

Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

Case report: waardenburg syndrome.

Science.gov (United States)

Dumayas, Grace Lea; Capó-Aponte, José E

2015-03-01

A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

Wolfram Syndrome. Case report.

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Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

2016-01-01

Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

Pregnancy and Evans´ syndrome: case report

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Santiago Artucio

2015-12-01

Full Text Available Evans´ syndrome is the coexistence of autoimmune thrombocytopenia with autoimmune hemolytic anemia. It is rarely found during the course of a pregnancy. This makes treatment options more difficult, since some therapeutic drugs are teratogenic. The effects of Evans´ syndrome in the fetus and newborn are unknown given the low number of reported cases. We report the case of a patient with preconceptional diagnosis of Evans´ syndrome, who develops a hemolytic crisis during the course of a pregnancy, and diagnosis of intrauterine growth restriction (IUGR, treated at Clínica Ginecotocológica “A” at the Pereira Rossell Hospital Center, in Montevideo, Uruguay. Treatment options and evolution are analyzed, as well as previous reports.

CROUZON SYNDROME: A CASE REPORT

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Debdas

2015-07-01

Full Text Available Crouzon’s Syndrome is a rare autosomal dominant disorder. Normally, the sutures in the human skull fuse after the complete growth of the brain. But, if any of these sutures closes early then it may interfere with the growth of the brain. Premature sutural fusion most commonly involves sagittal suture followed by coronal suture. We report a case of 6 - year - old male child presented with characteristic features of Crouzon’s syndrome. Diagnosis was made on the basis of clinical and radiological findings.

Caudal regression syndrome : a case report

International Nuclear Information System (INIS)

Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun

1998-01-01

Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging

Caudal regression syndrome : a case report

Energy Technology Data Exchange (ETDEWEB)

Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun [Chungang Gil Hospital, Incheon (Korea, Republic of)

1998-07-01

Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

Science.gov (United States)

Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

2013-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

Rapunzel syndrome: a rare postpartum case.

Science.gov (United States)

Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; Manikonda, Geeta

2013-01-01

The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

Comèl-Netherton syndrome – case report

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Izabela Błażewicz

2014-11-01

Full Text Available Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. Comèl-Netherton syndrome is caused by mutations of the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. Objective. We present diagnostic and therapeutic difficulties in a patient with Comèl-Netherton syndrome. Case report. We present the case of a 3-year-old boy, in whom from the first day of life generalized ichthyosiform erythroderma and diffuse exfoliation of the skin were observed. The differential diagnosis included Omenn syndrome, and atopic and seborrheic dermatitis. Finally, based on the overall clinical picture and microscopic examination of the hair, which showed the presence of bamboo hair, Comèl-Netherton syndrome was diagnosed. Conclusions . Because of similarity to other erythroderma, diagnosis of Comèl-Netherton syndrome in the first months of life creates diagnostic problems. In older children, recurrent skin infections and atopic diathesis can cause therapeutic difficulties and require the cooperation of many specialists.

Noonan Syndrome and Stroke: A Case Report

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Ebru Nur Mıhçı

2012-03-01

Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance

Noonan Syndrome and Stroke: A Case Report

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Ebru Nur Mıhçı

2012-03-01

Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance.

A Classic Case of Basal Cell Nevus Syndrome

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Dattaprasad Dadhe

2015-01-01

Full Text Available The basal cell nevus syndrome is an autosomal dominant inherited condition characterized mainly by basal cell carcinomas, multiple keratinizing odontogenic tumors, and other systemic anomalies. As these manifestations do not alter the patient′s lifestyle, most of the cases are diagnosed through oral abnormalities. A classic case of basal cell nevus syndrome fulfilling almost all the major and minor criteria has been reported here.

Williams-Beuren's Syndrome: A Case Report.

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Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

2012-01-01

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Williams-Beuren's Syndrome: A Case Report

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Hassan Zamani

2012-01-01

Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Neonatal Marfan syndrome: Report of two cases.

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Jurko, Tomas; Jurko, Alexander; Minarik, Milan; Micieta, Vladimir; Tonhajzerova, Ingrid; Kolarovszka, Hana; Zibolen, Mirko

2017-07-01

Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

Breast Cancer in Cowden Syndrome: A Case Report

International Nuclear Information System (INIS)

Jung, Mi Hee

2009-01-01

Cowden syndrome is rare condition with characteristic multiple hamartoma and mucocutaneous lesions. It is important for radiologists to be aware of Cowden syndrome because the patients with this disease have an increased risk for the occurrence of breast cancer. We report here on a case of invasive breast cancer in a 36-year-old female patient with Cowden syndrome

A Case Report of Gorlin-goltz Syndrome

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Shima Nafarzadeh

2016-04-01

Full Text Available Nevoid basal cell carcinoma syndrome (Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patched (PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Gorlin-goltz syndrome (GGS is characterised by the presence of multiple odontogenic keratocysts in the jaws, basal cell carcinomas, palmar and plantar pits and intracranial calcifications. Here, we present a case of familial GGS, characterised by multiple odontogenic keratocysts, broad nasal ridge, hypertelorism, enlarged head circumference and dermoid cysts.

Seckel syndrome: A report of a case

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K Ramalingam

2012-01-01

Full Text Available Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000, genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia, and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

Non-Syndromic Oligodontia in permanent dentition: A case report ...

African Journals Online (AJOL)

of a syndrome. The present case report highlights a unique case of non syndromic oligodontia, with agenesis of four permanent incisors, left permanent canine and right second premolar in the mandibular arch and its management with a novel fixed functional prosthetic appliance. Prosthetic rehabilitation is an urgent need ...

Kabuki Syndrome: a case report with severe ocular abnormalities

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Flavio Mac Cord Medina

2013-10-01

Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

International Nuclear Information System (INIS)

Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

1997-01-01

Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

[Toxic-shock syndrome. Three cases (author's transl)].

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Rapin, M; D'Enfert, J; Cabane, J

1981-06-13

Several cases of toxic shock syndrome (T.S.S) have been recently reported from the U.S.A. Clinical features of this new syndrome include fever, desquamative scarlatiniform rash, hypotension and involvement of central nervous system, liver, kidney and muscles. More than 90% of cases are women with staphylococcic vaginitis using tampons during menstruations. A toxin produced by staphylococcus aureus is thought to be the causative agent, because the germ has been isolated in local (vaginal, pharyngeal, subcutaneous or other sites) but not systemic (blood, cerebrospinal fluid) cultures. The mortality rate is 3-10%, and relapse can occur. We report the first three french cases of T.S.S.: a 17 year old girl with typical tampon-associated vaginitis, a 36 year old woman with a postoperative peritonitis and a 20 year old man with a popliteal abscess. Staphylococcus aureus of type I or IV was identified at the site of infection in all cases, but never in blood cultures. These three patients recovered with antistaphylococcic antibiotics and supportive therapy, but local treatment of infections seems to have been of utmost importance. These cases suggest that T.S.S. can occur with several staphylococcus serotypes and confirm that this syndrome is not always associated with tampons and vaginitis.

Two Cases of. Cushing's Syndrome tumour and bilateral hyperplasia

African Journals Online (AJOL)

Two patients, one with Cushing's syndrome and one with Cushing's disease, are presented. In the first case the syndrome was caused by a tumour of the right suprarenal gland which was treated by unilateral adrenalectomy, and the second case was diagnosed as hyperplasia of the left suprarenal gland, eventually leading ...

A Case of Pasqualini Syndrome

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P.M. Liashuk

2016-05-01

Full Text Available The article presents a case of isolated congenital deficiency of luteinizing hormone (Pasqualini syndrome that manifested by secondary hypogonadism with abnormalities of copulative and fertile functions, which were normalized after the treatment using chorionic gonadotropin.

PLATEAU IRIS SYNDROME--CASE SERIES.

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Feraru, Crenguta Ioana; Pantalon, Anca Delia; Chiselita, Dorin; Branisteanu, Daniel

2015-01-01

Plateau iris is characterized by closing the anterior chamber angle due to a large ciliary body or due to its anterior insertion that alters the position of iris periphery in respect to the trabecular meshwork. There are two aspects that need to be differentiated: plateau iris configuration and plateau iris syndrome. The first describes a situation when the iris root is flat and the anterior chamber is not shallow, the latter refers to a post laser iridotomy condition in which a patent iridotomy has removed the relative pupillary block, but goniscopically confirmed angle closure recurs without central shallowing of the anterior chamber. Isolated plateau iris syndrome is rare compared to plateau iris configuration. We hereby present two case reports of plateau iris syndrome in young patients who came to an ophthalmologic consult by chance.

Guillain-Barre syndrome associated with hemorrhagic fever with renal syndrome in China: a case report.

Science.gov (United States)

Jiao, Jie; Wu, Lei; Yin, Jianyuan; Quan, Xiaojiao; Chen, Wei; Hu, Jie

2018-03-27

We describe a case of Guillain-Barre syndrome (GBS) associated with hemorrhagic fever with renal syndrome. To our knowledge, only five cases of GBS associated with Hantavirus infection have been reported so far. A 62-year-old man presented intermittent fever, chill and oliguria. According to remarkable leukocytosis, atypical lymphocytes, thrombocytopenia and former dwelling in hemorrhagic fever-endemic area, he was suspected as hemorrhagic fever with renal syndromeand certified with positive Hantavirus IgG. Later, the patient had symmetrical flaccid paralysis of all extremities. Electromyography showed peripheral nerve injury (mainly in axon). The patient was diagnosed as having acute motor sensory axonal neuropathy (AMSAN). After immunoglobulin infusion, patient showed progressive recovery and was transferred 3 weeks after his first admission to a rehabilitation center. Our case was the 6th reported case of GBS associated with hemorrhagic fever with renal syndrome. Moreover, we for the first time classified the subtype of GBS (AMSAN) based on the electrophysiology characteristics. GBS should be suspected in patients who are already diagnosed as hemorrhagic fever with renal syndrome when delayed symmetrical limb paralysis occurs. Until recent now, GBS was only reported in hemorrhagic fever patients in Europe and Asia, which termed as hemorrhagic fever with renal syndrome.

Rapunzel Syndrome: A Rare Postpartum Case

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Teshome Tegene

2013-01-01

Full Text Available The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

A Case with Cramp-Fasciculation Syndrome

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Pinar Yalinay Dikmen

2014-12-01

Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

A case Report of Wolfram Syndrome

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Zahra Razavi

2007-01-01

Full Text Available Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness. It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family.

Autoerythrocyte Sensitization Syndrome: A Case Report

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Pinar Ozuguz

2014-04-01

Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

Nevoid Basal Cell Carcinoma Syndrome : A Case Report

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K Rajanikanth

2004-01-01

Full Text Available The nevoid basal cell carcinoma syndrome (NBCCS or Gorlin - Goltz syndrome is an autosomal disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The major organ systems involved are skin, bones, central nervous system, eyes, gonads and endocrine. This particular syndrome is extensively described in the literature under different names. However, there are only few cases reported in the Indian literature. An unusual case of a 33-year old male with large odontogenic keratocyst involving impacted canine in the mandible, along with multiple cysts and impacted teeth in the maxilla; bifid rib and vertebral anomalies has been described.

Diagnosis of 20 cases with chronic radiation syndrome

International Nuclear Information System (INIS)

Zhang, Hongshou; Shen, Zhezhong; Wen Zhigen; Xie, Xiaoping; Ni, Jinxian

1984-01-01

Twenty cases with chronic radiation syndrome were diagnosed in our department during 1957-1980. All except one were radiologists, and eight of them had worked in radiological departments for over 20 years. Owing to the use of out-dated x-ray machines as well as radium sources without adequate protection, all these cases were apparently overexposed to radiation. They presented following signs and symptoms of chronic radiation syndrome: excitability, palpitation, fatigue, general weakness, loss of weight, oversweating accompanied by tendency of lowered metabolism, peripheral blood cell changes, and chromosome aberrations. The diagnosis of this syndrome was based on definitive professional and over-exposure history, clinical picture and abnormal laboratory findings. (author)

The Effect of Recombinant Human MG53 Protein on Tourniquet-induced Ischemia Reperfusion Injury in Rat Muscle

Science.gov (United States)

2014-06-01

blind to the treatment , and the prevalence of damaged fibers was quantitated from 10 10x images from each muscle . Approximately 800 fibers were counted...therapeutic cell membrane repair in treatment of muscular dystrophy . Sci Transl Med. 2012; 4(139):139ra185. 11. Weisleder N, Lin P, Zhao X, Orange M, Zhu H...The effect of recombinant human MG53 protein on tourniquet- induced ischemia reperfusion injury in rat muscle Benjamin T. Corona, Ph.D.1, Koyal Garg

Systematic review of case reports of antiphospholipid syndrome following infection.

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Abdel-Wahab, N; Lopez-Olivo, M A; Pinto-Patarroyo, G P; Suarez-Almazor, M E

2016-12-01

The objective of this study was to conduct a systematic review of case reports documenting the development of antiphospholipid syndrome or antiphospholipid syndrome-related features after an infection. We searched Medline, EMBASE, Web of Science, PubMed ePubs, and The Cochrane Library - CENTRAL through March 2015 without restrictions. Studies reporting cases of antiphospholipid syndrome or antiphospholipid syndrome-related features following an infection were included. Two hundred and fifty-nine publications met inclusion criteria, reporting on 293 cases. Three different groups of patients were identified; group 1 included patients who fulfilled the criteria for definitive antiphospholipid syndrome (24.6%), group 2 included patients who developed transient antiphospholipid antibodies with thromboembolic phenomena (43.7%), and group 3 included patients who developed transient antiphospholipid antibodies without thromboembolic events (31.7%). The most common preceding infection was viral (55.6%). In cases that developed thromboembolic events Human immunodeficiency and Hepatitis C viruses were the most frequently reported. Parvovirus B19 was the most common in cases that developed antibodies without thromboembolic events. Hematological manifestations and peripheral thrombosis were the most common clinical manifestations. Positive anticardiolipin antibodies were the most frequent antibodies reported, primarily coexisting IgG and IgM isotypes. Few patients in groups 1 and 2 had persistent antiphospholipid antibodies for more than 6 months. Outcome was variable with some cases reporting persistent antiphospholipid syndrome features and others achieving complete resolution of clinical events. Development of antiphospholipid antibodies with all traditional manifestations of antiphospholipid syndrome were observed after variety of infections, most frequently after chronic viral infections with Human immunodeficiency and Hepatitis C. The causal relationship between infection

Hermansky-Pudlak Syndrome: A Case Report

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Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Gul, Mehmet; Bentli, Recep

2014-01-01

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems. PMID:24707413

Hermansky-Pudlak Syndrome: A Case Report

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Ilhami Berber

2014-01-01

Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

Science.gov (United States)

Skipper, Annalynn

2012-02-01

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

[Report of a case with Joubert syndrome and literature review].

Science.gov (United States)

Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

2011-12-01

To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

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Irene Berges-Raso

2017-09-01

Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

Gorlin-Goltz syndrome: A series of three cases.

Science.gov (United States)

Patankar, Amod P; Kshirsagar, Rajesh A; Dugal, Arun; Mishra, Akshay; Ram, Hari

2014-01-01

The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS.

The Antley-Bixler syndrome: two new cases.

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Hosalkar H

2001-10-01

Full Text Available The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.

Asperger syndrome related suicidal behavior: two case studies

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Kocourkova J

2013-11-01

Full Text Available Jana Kocourkova, Iva Dudova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine, University Hospital Motol, Prague, Czech Republic Abstract: Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. Keywords: Asperger syndrome, suicidal behavior, adolescence

The effects of different anesthesia techniques on free radical production after tourniquet-induced ischemia-reperfusion injury at children's age

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Budić Ivana

2010-01-01

Full Text Available Background/Aim. Reperfusion of previously ischemic tissue leads to injuries mediated by reactive oxygen species. The aim of the study was to investigate the effects of different anesthesia techniques on oxidative stress caused by tourniquetinduced ischemia-reperfusion (IR injury during extremity operations at children's age. Methods. The study included 45 patients American Society of Anesthesiologists (ASA classification I or II, 8 to 17 years of age, undergoing orthopedic procedures that required bloodless limb surgery. The children were randomized into three groups of 15 patients each: general inhalational anesthesia with sevoflurane (group S, total intravenous anesthesia with propofol (group T and regional anesthesia (group R. Venous blood samples were obtained at four time points: before peripheral nerve block and induction of general anesthesia (baseline, 1 min before tourniquet release (BTR, 5 and 20 min after tourniquet release (ATR. Postischemic reperfusion injury was estimated by measurement of concentration of malondialdehyde (MDA in plasma and erythrocytes as well as catalase (CAT activity. Results. Plasma MDA concentration in the group S was significantly higher at 20 min ATR in comparison with the groups T and R (6.78 ± 0.33 μmolL-1-1 vs 4.07 ± 1.53 and 3.22 ± 0.9. μmolL-1-1, respectively. There was a significant difference in MDA concentration in erytrocythes between the groups S and T after 5 min of reperfusion (5.88 ± 0.88 vs 4.27 ± 1.04 nmol/mlEr, p < 0.05. Although not statistically significant, CAT activity was slightly increased as compared to baseline in both groups S and R. In the group T, CAT activity decreased at all time points when compared with baseline, but the observed decrease was only statistically significant at BTR (34.70 ± 9.27 vs 39.69 ± 12.91 UL-1, p < 0.05. Conclusion. Continuous propofol infusion and regional anesthesia techniques attenuate lipid peroxidation and IR injury connected with tourniquet

Three cases of Wolfram syndrome with different clinical aspects.

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Çamtosun, Emine; Şıklar, Zeynep; Kocaay, Pınar; Ceylaner, Serdar; Flanagan, Sarah E; Ellard, Sian; Berberoğlu, Merih

2015-03-01

Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.

Primary sialoangiectasia - a diagnostic pitfall in Sjogren's syndrome - Case report

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Kalk, WWI; Vissink, A; Spijkervet, FKL; Bootsma, H

A case of primary sialoangiectasia, which in this case was initially misdiagnosed as Sjogren's syndrome, is described. Other diseases, including HIV infection, psoriatic arthritis, and acute parotitis, may cause glandular changes similar to the changes found in the syndrome. Therefore, sialography

Gorlin-Goltz syndrome: A rare case report.

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Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

Straatsma syndrome: two case reports

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Gabriela Nogueira

Full Text Available Abstract This article reports two cases of Straatsma Syndrome, a rare disease, emphasizing its clinical features that inclued myopia, strabismus and amblyopia associated with persistent myelinated fibers in the retina. Ophthalmic examination, color retinography and optical coherence tomography were performed.

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

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Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-01-01

ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Fryns anophthalmia-plus syndrome: two rare cases.

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Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

2014-01-01

Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

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Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

2017-01-01

Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

[Two cases of rehabilitation in Ehler-Danlos syndrome].

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Le Tallec, H; Lassalle, A; Khenioui, H; Durufle, A; Plassat, R; Gallien, P

2006-03-01

Ehlers-Danlos syndrome is rare and little known. It comprises a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Diagnosis may be difficult and often delayed. Here we describe 2 cases of women with Ehlers-Danlos syndrome. The first had scoliosis with back pain and joint hypermobility. The second presented with hypermobility and joint dislocation, which increased during pregnancy. In these 2 cases, rehabilitation management produced clinical improvement. Orthopaedic complications such joint pain, joint swelling, joint dislocation, back pain, with walking and hand function disability are the main problems in Ehlers-Danos syndrome. Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management. Ehlers-Danlos syndrome is an evolving disease that can lead to great impairment. Thus, physicians must be aware of this syndrome to offer the best management, with the appropriate use of orthotic devices, specific strengthening routines, education in proper body mechanics and assistive devices, to prevent joint dislocation and subluxations responsible for pain and handicap.

A case of idiopathic intracranial calcifications - Hahr syndrome

International Nuclear Information System (INIS)

Georgiev, R.; Balev, B.; Georgieva, M.; Georgiev, J.

2006-01-01

Full text: The purpose of the study is to review the clinical manifestation, imaging characteristics and pathophysiology of the Fahr syndrome and to present a case of the Fahr syndrome from our clinic. The Fahr syndrome is a rare neurodegenerative disorder, characterized by seizures, tetany, psychomotor retardation, development of a spastic paralysis, athetosis and parkinson like syndrome. It is inherited by an AR way but in affected families (relatives) an AD way is also possible. Sporadic cases have been known. Recently a possible chromosome locus on 14q was proved. Probably the case in point is a group of anomalies, in which symmetrically and bilaterally significant calcifications in the region of the basal ganglia, dentate nuclei in cerebellum and centrum semiovale are found. It is not clear yet whether these calcifications are a result from a 'metastatic' deposition because of a local destruction of the blood-brain barrier or are due to a disturbance in the neuronic calcium metabolism. The X-ray findings could be accidental in an asymptomatic patient but a progressive development of an extrapyramidal syndrome may be also observed. Our case is a 37 years old woman with seizures with loss of consciousness, convulsions and urine incontinence. The complaints are dated from the age of 5 years old. The X-ray images disclosed striking non-natural calcifications in globus pallidus, putamen, n.caudatus, thalami, n.dentati, cerebellum.The blood test revealed normal serum levels of calcium, phosphorus, alkaline phosphatase. The CT findings put together with the typical clinical history and the normal blood test were a prerequisite for this diagnosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with prune belly syndrome: a case report.

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Akhtar, Tanveer; Alladi, Anand; Siddappa, O S

2012-01-01

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome is a quite rare congenital anomaly that presents with a functional obstruction of the gastrointestinal tract which is usually fatal. It is three to four times more prevalent in females. We present a case of a rare association of a male neonate with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome who in addition had the classical triad of Prune Belly Syndrome and thus suggest a possibility of different spectrums with a common pathogenesis.

A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

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Metin Çeliker

2014-01-01

Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

An unusual case of nephrotic syndrome

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M Sahay

2016-01-01

Full Text Available Nephrotic syndrome can be rarely due to inherited disorders of enzymes. One such variety is lecithin cholesterol acyltransferase deficiency. It leads to accumulation of unesterified cholesterol in the eye and other organs. We report a case of nephrotic syndrome with cloudy cornea and hypocholesterolemia with foam cells and lipid deposits on renal biopsy. Awareness about this rare disease may help in the early institution of specific measures to prevent progression to end-stage renal disease.

A Case of Bardet-Biedl Syndrome

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katayon Etemadi

2007-09-01

Full Text Available Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnormalities and hypogonadism. Renal failure is the major cause of death in homozygote patients, with chronic glomerolopathy that cause chronic renal disease. Secondary features are: speech disorder delay, developmental delay, polyuria, diabetes mellitus and hypertension. The diagnosis of Bardet- Biedl syndrome is established by clinical findings. Twelve genes are known to be associated with Bardet Biedl syndromes: BBS1, BBS2… BBS12. Case presentation: In this article we report a four and half year old boy that have Bardet Biedl syndrome as a result of a consanguine marriage (third degree. Conclusion: A monogenic syndrome such as Bardet Biedl has a lot of symptoms. These symptoms are out put of a mutation in locus of a recessive allel. Therefore people like to marry consanguinly have to do genetic counseling before marriage. Because analysis of family history will reduced the risk of such syndromes.

Carpal Tunnel Syndrome in Aberrant Muscle Syndrome: A Case Report and Review of the Literature.

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Steele, Jessica; Coombs, Christopher

2018-06-01

Aberrant Muscle Syndrome (AMS) is a rare congenital hand difference that is characterised by unilateral non-progressive muscular hyperplasia. The aetiology of aberrant muscle syndrome is not known, but a recently published case has shown a somatic PIK3CA activating mutation in a patient with AMS. Carpal tunnel syndrome (CTS) in children is rare. The most common causes are the mucopolysaccaridoses but space-occupying lesions have also been reported to cause CTS in children. We report the first case of CTS in a child with AMS successfully treated with open carpal tunnel release and excision of aberrant muscles.

Gorlin-Goltz syndrome: A rare case report

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Chetan A Pol

2013-01-01

Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

OROFACIAL FINDINGS IN NOONAN SYNDROME: A CASE REPORT

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Raluca Maria MOCANU

2013-06-01

Full Text Available Noonan syndrome is an autosomal dominant multisys‐ tem disorder, associated with cardiac anomalies and a dis‐ tinctive facial appearance, characterized by genetic heterogeneity. Noonan syndrome affects both females and males, and has an estimated incidence of 1 per 1,000‐2,500 live births. The present report aims at presenting the cranio‐dento‐facial findings in a case of Noonan syndrome in a 6 year‐old male.

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

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Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-04-01

The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

Prune Belly Syndrome in Adolescence: A Case Report

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Prasad Mylarappa

2015-01-01

Full Text Available The Prune Belly syndrome also known as Eagle Barret syndrome is a rare disorder. We report a rare case of Prune Belly syndrome in 17 year old boy. Patient presented with complains of absence of both testis in scrotum since birth. On examination patient was found to have lax abdominal wall. Patient was further evaluated and found to have shrunken small right kidney and left hydroureteronephrosis and the diagnosis of Prune Belly Syndrome was made. Prune Belly Syndrome represents a wide spectrum of disease. Each patient must be dealt with on an individual basis. A course of watchful waiting with selective surgical intervention has also been successful.

Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

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Chiappedi Matteo

2011-11-01

Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

Successful treatment with tacrolimus in TAFRO syndrome: two case reports and literature review.

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Shirai, Taiichiro; Onishi, Akira; Waki, Daisuke; Saegusa, Jun; Morinobu, Akio

2018-06-01

TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. In contrast to that in multicentric Castleman disease, interleukin-6 targeting strategies seem ineffective in some TAFRO syndrome cases; however, the optimal treatment remains unclear. Here, we report 2 cases of TAFRO syndrome, where 1 with cardiomyopathy, successfully treated with tacrolimus. This is the first case report of successful treatment with tacrolimus in TAFRO syndrome. Both patients (cases 1 and 2) developed fever, anasarca, thrombocytopenia, renal dysfunction, and mild hepatosplenomegaly. In both patients, lymph node pathology revealed mixed type Castleman disease-like features, and bone marrow showed reticulin myelofibrosis. TAFRO syndrome was diagnosed based on the patients' laboratory, clinical, and pathologic findings. In case 2, we observed a rare complication of cardiomyopathy with no evidence of takotsubo cardiomyopathy or viral myocarditis. In case 1, tocilizumab combined with glucocorticoids was ineffective and caused septic shock; additionally, cyclosporine A was discontinued because of hepatotoxicity. However, tacrolimus was effective in resolving TAFRO syndrome without any adverse events. In case 2, tacrolimus completely reversed TAFRO syndrome and was also effective in cardiomyopathy. This report suggests that tacrolimus is potentially effective and safe as an initial treatment and a glucocorticoid-sparing agent. Our literature review shows that calcineurin inhibitors, including tacrolimus, may be effective in TAFRO syndrome. Since previous studies indicate a role of Th1 inflammation in TAFRO syndrome pathogenesis, tacrolimus may, therefore, be effective in treating TAFRO syndrome.

A case report of acute myelogenous leukemia with Turner Syndrome.

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Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

2017-09-01

Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

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Sushma Yalavarthi

2017-01-01

Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.

A strange case of Evans syndrome

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Manuel Monti

2013-12-01

Full Text Available Evans syndrome is a rare autoimmune disease presenting hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. It can have an extremely serious disease course and, in rare cases, this can even be life-threatening. First-line treatment consists of steroids and/or immunoglobulin. Further therapy with rituximab, vincristine, cyclophosphamide and other immunosuppressive drugs can be considered in unresponsive patients. We report a case of Evans syndrome in a 54-year old woman admitted to the Emergency Department (ED for asthenia. Etiopathogenic, clinical, therapeutic and evolutive aspects are discussed. In contrast to many cases described in the literature, our patient had a satisfactory response to corticoids. We also discuss how to make a specific diagnosis, even in a suburban ED with limited resources, in order to admit patients to the appropriate hospital department and allow the correct therapy to be started as early as possible.

Alagille syndrome case report: implications for forensic pathology and anthropology.

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Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter

2015-05-01

This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

NEONATAL ABSTINENCE SYNDROME - CASE REPORT

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Aleksandra Matic

2008-01-01

Full Text Available Neonatal abstinence syndrome (NAS refers to the constellation of signs and symptoms exhibited by a newborn of drug-abusing mother. NAS is multisystemic disorder, most frequently involving central nervous and gastrointestinal systems with irritability, high-pitched cry, hyperactive reflexes, increased muscle tone, tremors, generalized convulsions, feeding and sleeping disorders, tachycardia, tachypnea, apnea, termolability and sweating, frequent hiccups, yawning and sneezing, vomiting, diarrhea and dehydration.Intrauterine narcotic disposition can give some other adverse effects beside NAS: fetal distress, premature birth, intrauterine growth retardation, microcephaly, increased incidence of congenital anomalies (cardiac and genitourinary anomalies, cleft palate, biliar atresia. Significantly increased risks of sudden infant’s death syndrome (SIDS, abnormalities in neurocognitive and behavioral development and deficiency in motor functions have also been noticed after the long-term surveys of these children.This paper is a case report of a newborn with developed clinical signs of NAS, but it also discusses diagnostics and management of such cases

Diogenes Syndrome: A Case Report

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Projna Biswas

2013-01-01

Full Text Available Cessation of normal skin cleansing seen in geriatric or self-neglected patients can cause accumulation of keratinous crusts on the skin. In the extreme end of this spectrum is a condition known as Diogenes syndrome (DS. These patients may have psychiatric disorders like paranoid disorders, mood affection, or temporofrontal dementia. Subjects are mainly the elderly but few cases in younger age group of patients have also been reported. Lesions of DS are usually found over upper central chest, back, and groin. In the young, lesions are mainly found over scalp, face, or arms. Absence of normal skin cleaning causes keratin and dirty debris to accumulate and with time form a thick shell. These debris can be secondarily infected by bacteria, fungus, and so forth. These skin lesions are not usually seen in individual with proper hygiene. We report a case of Diogenes syndrome in a 34-year-old young male patient who had associated schizophrenia.

An Unusual Os Trigonum Syndrome Case Secondary to Car Accident: A Case Report

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Safer

2016-03-01

Full Text Available Introduction The os trigonum syndrome is a common cause of posterior ankle pain, often affecting ballet dancers, soccer players, runners and gymnasts who frequently force the ankle into plantar flexion. In rare cases, onset of the os trigonum syndrome followed an acute injury. Case Presentation A 62-year-old female patient was admitted with load depended ankle pain and swelling, lasting for five years which promptly started after a car accident. We incidentally discovered os trigonum on plain radiography on a lateral view of the right ankle. Conclusions The os trigonum syndrome should take in consideration in elderly subject who had posterior ankle pain starting after a car accident.

Clinicai analysis of 12 cases with Tourtte Syndrome

Institute of Scientific and Technical Information of China (English)

Lu Xiudong; Dong Aiqin; Meng Suqi

2000-01-01

Objective To in vestigate the diagnosis and treatment of Toarette Syndrome. Method We studied the clinical features and drug therapy of 12 cases with Tourette Syndrome, 10 male, 2 female,1l with age of 7-16 years, 1 was 40 years old. The major symptoms were multiple tic seizure, Companied bystrange voices episode. The CT scan did not find abnormal changes. Wechsler intelligence tests were normal. All patients were giveu Tabellae Tiapridi, 150 to 300ms daily for 6-10 months. Result 5 cases were completely cured, 3 were obviously effective, 2 were improved, 2 were unhelpful. The effective rate was more than 80 per cent. Conclusion Tourette Syndrome is a frequent chronic neural psychical disorder in child. The treatment with Tiapridi was secure and effective.

[Psychosis Associated With Fahr's Syndrome: A Case Report].

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Cassiani-Miranda, Carlos Arturo; Herazo-Bustos, Mariana; Cabrera-González, Armando; Cadena-Ramos, Ivan; Barrios-Ayola, Francisco

2015-01-01

Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Case report. The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Dress Syndrome - A Case Report

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Kremić Zorana

2016-06-01

Full Text Available The drug reaction with eosinophilia and systemic symptoms (DRESS syndrome is an adverse drug-induced reaction that occurs most commonly after exposure to drugs, most frequently anticonvulsants, sulfa derivates, antidepressants, nonsteroidal anti-inflammatory drugs, and antimicrobials. We present a 61-year-old male, with a generalized maculopapular exanthema on the trunk, face, extremities, palms, soles, palate, and fever (38°C. His medical history was notable for generalized epilepsy, treated with carbamazepine during 1 month. The diagnosis of DRESS syndrome was confirmed by specific RegiSCAR criteria. In our case, skin eruptions were successfully treated with oral methylprednisolone, cephalexin, and topical corticosteroid ointment.

X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

OpenAIRE

Telepova, Alena S.; Romanenko, Svetlana A.; Lemskaya, Natalya A.; Maksimova, Yulia V.; Shorina, Asia R.; Yudkin, Dmitry V.

2017-01-01

Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the ce...

Osteomalacia in a Case of Adult-Onset Bartter Syndrome

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Rashid Naseem Khan

2018-01-01

Full Text Available Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.

Barr-Shaver-Carr Syndrome: a case report

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Mohammad Reza Kalantar Hormozi

2010-04-01

Full Text Available There are different subtypes of Kline Felter syndrome which 48, XXXY is called Barr-Shaver-Carr syndrome. We present a 17 years old man who referred due to absence of puberty, micro penis decreased Intelligence quotient and also some other sign and symptoms. The presented case stresses performing of kariotype examination (chromosome analysis in the evaluation of patient with such problems.

Case Report : A Relieved Family with the Diagnosis of Wernicke-Korsakoff Syndrome

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Ahmet Kokurcan

2014-02-01

Full Text Available Wernicke-Korsakoff Syndrome (WKS is a diagnosis formed from Wernicke ensephalopathy and Korsakoff Syndrome together. WKS is usually a chronic syndrome beginning acutely. Wernicke%u2019s encephalopathy is an acute syndrome composed of the triad of oculomotor signs; ataxia and confusion. B vitamines especially tiamine are considered to cause the syndrome. Korsakoff syndrome is a syndrome presenting with amnesia and amnesia is permanent in many cases. While Korsakoff syndrome is a continuation form of Wernicke; the syndromes are admitted as the acute and chronic conditions of the same pathophysiology. WKS syndrome means despair for many psychiatrists and the family unless treatment is initiated in the acute phase and irreversible cognitive impairment is prevented. We will discuss a case of WKS pleasing his family as nervousness has improved with cognitive impairment.

Seckel syndrome: A rare case report

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Rinky Sisodia

2014-01-01

Full Text Available Seckel syndrome (SS is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.

[A case of Isaacs' syndrome associated with dextrocardia].

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Torres, L; Cosentino, C; Vélez, M; Anicama, A

Isaacs syndrome is a disorder of unknown etiology characterized by muscular rigidity, cramps and myokymias. Described by Isaacs in 1961 and called by him as continuous muscular activity syndrome. There are few reports in Latino american countries. A 31 year-old man with sustained muscular contractions in lower limbs and diffuse myokymias since he was eighteen-year old. Dextrocardia was disclosed on clinical examination. We report the case of a patient with Isaacs syndrome and dextrocardia.

Kleine–Levin Syndrome: A case report

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Taís Figueiredo de Araújo Lima

2014-06-01

Full Text Available The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature.

[Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].

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Kessler, Holger; Kraft, Susanne

2008-01-01

Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties. It is caused by mutations or deletions of the NSD-1 gene. Most cases are sporadic. Apart from a number of physical abnormalities that are commonly present, a high prevalence of cognitive, emotional and behavioural problems in children with Sotos syndrome can be assumed. However, there has been almost no literature about psychiatric symptoms in adults with Sotos syndrome so far; one case of psychosis was reported. In the present case, the authors present psychopathological features of an adult patient with Sotos syndrom who developed - among other things - psychotic symptoms.

Sensitivity of different types of fibres in rabbit skeletal muscle to pneumatic compression by tourniquet and to ischaemia.

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Fridén, J; Pedowitz, R A; Thornell, L E

1994-06-01

Morphometric properties (distribution of types of fibre and fibre areas) in the non-necrotic regions of four different rabbit muscles (superficial portions of semimembranosus, biceps femoris, tibialis anterior, and soleus muscles) were measured 48 hours after a tourniquet had been applied around the thigh for two hours at either 125 or 350 mmHg. There was an considerable increase of the relative numbers of both large and small fibres as well as changes in the proportions of the types of fibre. The most dramatic percentage change in type of fibre was in the semimembranosus when compressed at 350 mmHg, which showed an increase of the relative frequency of fibres with type 2AB staining characteristics from 10.2% to 18.0% (p < 0.001). Extreme changes in fibre area were found exclusively in semimembranosus and biceps femoris. Most fibres of abnormal size were of type 2, type 2B fibre areas being the most affected. This study shows that morphometry is a valuable tool in the assessment of the more subtle indications of injury. Compression and ischaemia together have a more dramatic effect on muscle morphology and morphometric properties in the non-necrotic regions than ischaemia alone. These data also show that muscles are differentially sensitive to compression and ischaemia. This information may be useful into the understanding of more complex functional deficits observed after the use of tourniquet.

Intrapartum diagnostic of Roberts syndrome - case presentation.

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Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

2015-01-01

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

Ramsay Hunt syndrome in a child – case report

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Joanna Grabowska

2016-12-01

Full Text Available Introduction. Ramsay Hunt syndrome is a rare disease characterized by complications of herpes zoster oticus. This syndrome is defined by characteristic skin lesions with paresis of the facial and/or vestibulocochlear nerve. Objective. To present a case of a 14-year-old child with Ramsay Hunt syndrome. Case report . A 14-year-old patient was admitted to the Department of Dermatology due to vesicular lesions in the left auricular region. On medical examination, insufficiency of the left eyelid, asymmetry of the facial lines, drooping of the left corner of the mouth, and smoothing of the forehead were observed. According to the House-Brackmann scale, the patient had paresis (grade IV of the facial nerve. The patient was treated with intravenous acyclovir, antibiotics and anti-inflammatory drugs. Supplementation with vitamin B and rehabilitation procedures were also introduced. Conclusions . Ramsay Hunt syndrome is very rare in the pediatric population. It requires interdisciplinary cooperation between doctors. The presented case confirms the validity of therapy with acyclovir and prednisone and rehabilitation.

Anton's syndrome due to cerebrovascular disease: a case report

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Maddula Mohana

2009-09-01

Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

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Christina E. Brzezniak

2017-04-01

Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

A case of phace syndrome and acquired hypopituitarism?

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Denzer Friederike

2012-06-01

Full Text Available Abstract Background PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies. Case vignette We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency. Conclusions This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.

Staphylococcal scalded skin syndrome in a 4-year-old child: a case report.

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Haasnoot, P J; De Vries, A

2018-01-29

Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin syndrome primarily affects children and can cause serious morbidity. In this case report we highlight the case of a 4-year-old Caucasian boy. Diagnostic and therapeutic challenges are discussed. Differential diagnoses are considered and therapy is described and discussed. The latest treatment options are used and described. Successful results are achieved in this case due to timely and correct management. Some therapeutic options are widely used without thorough research bases. This case report highlights staphylococcal scalded skin syndrome and its treatment, and future challenges. Further research is warranted and this case report aims to further research in exfoliating skin disorders.

Meckel-Gruber syndrome: Report of two cases

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C Panduranga

2012-01-01

Full Text Available Meckel-Gruber syndrome (MKS is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele, hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.

Usher Syndrome: Case Reports of Two Siblings

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Raman Prasad Sah, B.Optom; Pragati Gautam, MD; Jyoti Baba Shrestha, MD; Mahesh Raj Joshi, M.Optom

2015-01-01

Background: Usher syndrome is a rare autosomal recessive disorder characterized by congenital sensory neural deafness and progressive visual loss secondary to retinitis pigmentosa. There are three different types of Usher syndrome. Retinitis pigmentosa is the main ophthalmic manifestation shared by all three. Differences in auditory and vestibular function are the distinguishing feature. Case Reports: Two brothers, 13 and 16 years of age, presented with chief complaints of progressive dim...

Persistent Mullerian Duct Syndrome: an interesting case report.

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Farag, S; Sutton, P; Leow, K S; Kosai, N R; Razman, J; Hanafiah, H; Das, S

2013-01-01

Transverse testicular ectopia is an uncommon disorder of testicular ectopia. Nearly thirty percent of the cases is associated with Persistent mullerian duct syndrome which is characterized by karyotypically normal males with retained mullerian derivatives. Understanding the natural process of the condition and the association with malignant potential will allow for a better understanding of the optimal surgical approach. This is a case report of young male presented a left sided inguinal hernia in which the sac contained both testes and uterus. The literature review of the syndrome will be discussed.

An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review.

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Chakravarti, Tutul; Spaeth, George

2013-01-01

'Overlap syndrome' describes the situation in which two or more 'independent' conditions are present, either one of which could cause a particular finding. This current presentation reports a case with bilateral pigment dispersion syndrome (PDS), advanced pigmentary glaucoma (PG), and the Marfan syndrome, with bilateral subluxation of the lenses, and large short-term and long-term fluctuations of intraocular pressure. It is interesting to consider whether the associated advanced glaucomatous nerve damage could be a manifestation of just the PDS, just the Marfan syndrome, or rather a combination of these two overlapping independent conditions. How to cite this article: Chakravarti T, George S. An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review. J Current Glau Prac 2013;7(2):91-95.

Bilateral inverse Duane′s retraction syndrome-A case report

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Chatterjee Pranab

1991-01-01

Full Text Available Duane′s retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome. Inverse Duane′s retraction syndrome is a condition with reverse clinical features. Abduction of the affected eye is possible to some extent and is accompanied by retraction of the eyeball, narrowing of the palpebral fissure and pseudoptosis. There may be some restriction of movement on adduction. The primary lesion is suspected to be in the medial rectus muscle. Frequently the muscle is found to be entrapped following trauma to the medial wall of the orbit. A case of bilateral inverse Duane′s retraction syndrome and convergent squint along with left-sided perceptive deafness is reported. As is usually the case there was no structural abnormality or entrapment of the muscle from trauma.

Peutz-Jehgers syndrome (A case report)

International Nuclear Information System (INIS)

Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik

1974-01-01

This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature

Peutz-Jehgers syndrome (A case report)

Energy Technology Data Exchange (ETDEWEB)

Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik [Chonnam University School of Medicine, Kwangju (Korea, Republic of)

1974-10-15

This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature.

A case report of Halzon syndrome

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Montazeri A

1997-07-01

Full Text Available Report of two cases from Halzon syndrome (Tabriz-1996-97. One mother and her daughter ten minutes after eating from raw or half-ripe sheep gut (bowel, showed clinical demonstration of Halzon syndrome. Clinical aspects included: nasal, ear, frontal, and throat pruritis; oral and nasal discharge, caugh, headache, vertigo and mucoid sputum. One day after beginning of this signs and symptoms, some small white worms in 4-6 mm size, discharge from nose and mouth of patients. These worms in laboratory study, were diagnosed as nymph of linguatula serrata

A case of Swyer-James syndrome

International Nuclear Information System (INIS)

Suzuki, Toshimitsu; Ohtani, Naoshi; Kimura, Sohichi; Izuchi, Rokuro; Iio, Masaaki; Fujinami, Kenji.

1982-01-01

Infantile infections are thought to constitute one of the main bases of the etiology of Swyer-James syndrome. This case seems to support the above theory allowing for the anamnesis of the pleuritis at 2 years of age, bronchographical findings - bilateral but markedly left-sided bud-like bronchiectatic changes - and left pulmonary angiographical findings - simultaneous appearance of pulmonary arteries and veins with scarce capillary image. Concerning the ventilation of this syndrome, 133 Xe inhalation test showed a ''Pendelluft'' phenomenon, shift of 133 Xe from the healthy to the affected lung on forced expiration. (author)

Radiologic features of preteus syndrome: A case report

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Kim, Ok Hwa [Dept. of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

2014-04-15

Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations with overgrowth of various tissues. The author reports the case of a Proteus syndrome in a 14-year-old girl who had the unique features of this syndrome including megaspondylodysplasia with resultant scoliosis, leg discrepancy, macrodactyly, clinodactyly, hyperostosis in external auditory meatus, asymmetric megalencephaly, splenomegaly, cystic lung changes, asymmetric soft tissue fat infiltrations and a long, asymmetric face, with descriptions of the radiological features.

A case of William's syndrome associated peripheral pulmonary arterial stenosis

International Nuclear Information System (INIS)

Jung, Kyung Hwa; Hwang, Mi Soo; Kim, Sun Yong; Chang, Jae Chun; Park, Bok Hwan

1988-01-01

William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures

Evaluation of the Components of the North Carolina Syndromic Surveillance System Heat Syndrome Case Definition.

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Harduar Morano, Laurel; Waller, Anna E

To improve heat-related illness surveillance, we evaluated and refined North Carolina's heat syndrome case definition. We analyzed North Carolina emergency department (ED) visits during 2012-2014. We evaluated the current heat syndrome case definition (ie, keywords in chief complaint/triage notes or International Classification of Diseases, Ninth Revision, Clinical Modification [ ICD-9-CM] codes) and additional heat-related inclusion and exclusion keywords. We calculated the positive predictive value and sensitivity of keyword-identified ED visits and manually reviewed ED visits to identify true positives and false positives. The current heat syndrome case definition identified 8928 ED visits; additional inclusion keywords identified another 598 ED visits. Of 4006 keyword-identified ED visits, 3216 (80.3%) were captured by 4 phrases: "heat ex" (n = 1674, 41.8%), "overheat" (n = 646, 16.1%), "too hot" (n = 594, 14.8%), and "heatstroke" (n = 302, 7.5%). Among the 267 ED visits identified by keyword only, a burn diagnosis or the following keywords resulted in a false-positive rate >95%: "burn," "grease," "liquid," "oil," "radiator," "antifreeze," "hot tub," "hot spring," and "sauna." After applying the revised inclusion and exclusion criteria, we identified 9132 heat-related ED visits: 2157 by keyword only, 5493 by ICD-9-CM code only, and 1482 by both (sensitivity = 27.0%, positive predictive value = 40.7%). Cases identified by keywords were strongly correlated with cases identified by ICD-9-CM codes (rho = .94, P definition through the use of additional inclusion and exclusion criteria substantially improved the accuracy of the surveillance system. Other jurisdictions may benefit from refining their heat syndrome case definition.

The nasogastric tube syndrome: two case reports and review of the literature.

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Apostolakis, L W; Funk, G F; Urdaneta, L F; McCulloch, T M; Jeyapalan, M M

2001-01-01

The nasogastric tube syndrome is a potentially life-threatening complication of an indwelling nasogastric (NG) tube. The syndrome is thought to result from ulceration and infection of the posterior cricoid region with subsequent dysfunction of vocal cord abduction. This dysfunction may present as complete loss of vocal cord abduction manifested as serious airway compromise. Reports of this syndrome are infrequent, with only 29 cases published to date. Two additional cases of nasogastric tube syndrome diagnosed at the University of Iowa Hospitals and Clinics over a 2-year period are presented. A search of MEDLINE (1966 through February 1999), including review of those articles' references identified seven previous publications, including 29 case reports. These 29 cases are reviewed and the findings summarized. Twenty-nine cases of NG tube syndrome are identified, with 16 of these occurring in the preantibiotic period. Including the two cases presented here, 15 contemporary patients are examined. Among these 15 cases, 10 required tracheostomy, on average 8.5 days after NG tube placement. Although the fully manifested syndrome presents quite dramatically, we suspect that a clinical spectrum of severity exists with less severe cases going unrecognized. Consistent with previous reports, we found that direct visualization of the postcricoid region is required to rule out the diagnosis and recommend such action be taken whenever the diagnosis is suspected. Treatment should include establishment of a safe airway, removal of the tube whenever possible, antibiotic therapy, and antireflux therapy.

Noonan syndrome: A case report

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Asokan S

2007-09-01

Full Text Available Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1000-2500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team.

[Acute pancreatitis and afferent loop syndrome. Case report].

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Barajas-Fregoso, Elpidio Manuel; Romero-Hernández, Teodoro; Macías-Amezcua, Michel Dassaejv

2013-01-01

The afferent syndrome loop is a mechanic obstruction of the afferent limb before a Billroth II or Roux-Y reconstruction, secondary in most of case to distal or subtotal gastrectomy. Clinical case: Male 76 years old, with antecedent of cholecystectomy, gastric adenocarcinoma six years ago, with subtotal gastrectomy and Roux-Y reconstruction. Beginning a several abdominal pain, nausea and vomiting, abdominal distension, without peritoneal irritation sings. Amylase 1246 U/L, lipase 3381 U/L. Computed Tomography with thickness wall and dilatation of afferent loop, pancreas with diffuse enlargement diagnostic of acute pancreatitis secondary an afferent loop syndrome. The afferent loop syndrome is presented in 0.3%-1% in all cases with Billroth II reconstruction, with a mortality of up to 57%, the obstruction lead accumulation of bile, pancreatic and intestinal secretions, increasing the pressure and resulting in afferent limb, bile conduct and Wirsung conduct dilatation, triggering an inflammatory response that culminates in pancreatic inflammation. The severity of the presentation is related to the degree and duration of the blockage.

Prenatal diagnosis of Caudal Regression Syndrome : a case report

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Celikaslan Nurgul

2001-12-01

Full Text Available Abstract Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

Cerebro-costo-mandibular syndrome: Report of two cases.

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Abdalla, Wael; Panigrahy, Ashok; Bartoletti, Stefano C

2011-01-01

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

Churg-Strauss syndrome in childhood: a case report.

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Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Štefáčková, Šárka

2014-10-01

Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome. © The Author(s) 2013.

Syndromic analysis in child neuropsychology: A case study

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Solovieva Yu.

2017-12-01

Full Text Available Background. Neuropsychology is a science with its own specific concepts, terms, and methods of analysis of disturbances in psychological development. One of the essential concepts of neuropsychological methodology, according to A.R. Luria, is that of a neuropsychological syndrome, which takes into account both the functional organization of the brain and the behavioral system. However, this concept isn’t mentioned in the majority of his publications, and thus is not well known by neuropsychologists. There is no clear understanding of this concept within the works of modern neuropsychologists. This omission has a strong influence on the way analysis and interpretation of developmental difficulties is carried out today. Objective. The objective of this study is to present an example of the successful application of qualitative syndromic analysis to the case of a Mexican preschool child with developmental problems and learning disabilities. Design. The clinical analysis was applied to the case of a 6 year old girl with learning disabilities, whose difficulties had been attributed primarily to a low level of general brain activation. Results. The authors assert that the advantages of A.R. Luria’s syndromic approach to clinical cases of difficulties in development and learning disabilities, are that it opens up the potential for finding the general causes on different levels: neuronal maturation, brain mechanisms, activity and personality. Conclusion. The authors conclude that the topic of syndromic analysis in child neuropsychology requires further scientific discussion. The necessity for revising levels of analysis of clinical cases should be taken in account.

Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation.

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Khan, M H; Ashrafuzzaman, S M; Taib, A N; Alam, M T; Khan, S H; Goldstein, S K; Rahman, R

2015-10-01

People with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. These individuals have been referred to as dog-men, hair-men, and werewolves. In 1993, Baumister et al. described congenital hypertrichosis lanuginose or Ambras syndrome: a distinct form of congenital hypertrichosis characterized by excessive hair growth over the body and face associated with facial and occasional dental anomalies. Much is not known about this syndrome since fewer than 50 cases have been documented worldwide. In this case report, a nine year old girl presented with excessive hair growth throughout her body that was denser along her midline. Furthermore, her face displayed the typical dysmorphic features characteristic of Ambras syndrome: a round tip nose, thickened nasal cartilage, antiverted nares, prominent philtrum with deep groove, and a trapezoid mouth. Oral examination revealed normal oral mucosa with completely missing and unerupted decidious and permanent teeth. Panoramic radiographs confirmed unerupted deciduous teeth. Previous case reports have mentioned the presence of occasional dental anomalies such as retarded first and second dentition and absence of some teeth. However, this is the first reported case of Ambras syndrome presenting with complete anodontia. Prior cytogenetic studies performed on persons with Ambras syndrome have implicated a balanced pericentric inversion of chromosome 8. However, it is likely that dental anomalies are likely a result of a different genetic rearrangement. Further studies are needed to explore the cause of this rare phenotype of Ambras syndrome with complete unerupted dentition.

Goldenhar Syndrome: Review of Literature and A Case Report

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Anusha Rangare Lakshman

2017-07-01

Full Text Available Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the fabrication of removable ear prosthesis for esthetic purpose.

The association between prune belly syndrome and dental anomalies: a case report

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Basso Maria Daniela

2012-12-01

Full Text Available Abstract Background Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. Case presentation The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors were noted. Conclusion This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.

Incomplete McCune-Albright Syndrome: A Case Report

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Nagehan Aslan

2014-08-01

Full Text Available Fibrous dysplasia of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. It has a large clinic spectrum from benign monostotic fibrous dysplasia to McCune-Albright syndrome. Rare McCune-Albright syndrome is characterized by precocious puberty, cafe au lait spots and fibrous dysplasia. Herein we presented a case who was preferred to hospital with pathological fractures and diagnosed with Incomplet McCune Albright syndrome because of the lack of endocrine hyperfunction and developed early puberty at clinical course.

A Case Report of Maffucci Syndrome

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Gh. Eshghi

2013-01-01

Full Text Available Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma causing deformity of fingers and toes with multiple vascular tumors (cavernous hemangioma in the distal upper and lower limbs. Entire laboratory investigations including thyroid function tests were normal. Cardiovascular ex-amination including EKG and echocardiography were also normal. The abnormal findings on brain CT SCAN with contrast were not observed. Angiographic and histologic stud-ies confirmed the cavernous hemangioma and radiography of fingers and toes approved bone lesions (enchondroma. Conclusion: A diagnosis of Maffucci syndrome was made by the above mentioned measures.(Sci J Hamadan Univ Med Sci 2013; 19 (4:82-85

Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

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Metwalley Kotb A

2008-10-01

Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Lemierre syndrome: a case report

International Nuclear Information System (INIS)

Bae, Young A; Lee, In Jae; Kim, Hyun Beom; Hong, Myung Sun; Lee, Kwan Seop; Lee, Yul; Bae, Sang Hoon

2006-01-01

Lemierre syndrome is a rare disease characterized by internal jugular vein thrombosis and septic emboli, and it primarily occurs in healthy young individuals; this disease usually follows an acute oropharyngeal infection. To the best of our knowledge, only a few reports about this disease have appeared in the radiologic literature. We report here the radiologic findings of a case of Lemierre syndrome in a young healthy female adolescent who had a history of acute pharyngotonsilitis. Chest radiographs showed lung nodules that displayed cavitary changes with rapid progression on the serial studies. High-resolution CT scan showed multi-focal patchy consolidations that connect with vessels, and this was suggestive of septic pulmonary embolism. Ultrasonography and CT scan of the neck revealed right internal jugular vein thrombosis

A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

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Maltese, Paolo E; Iarossi, Giancarlo; Ziccardi, Lucia; Colombo, Leonardo; Buzzonetti, Luca; Crinò, Antonino; Tezzele, Silvia; Bertelli, Matteo

2018-02-01

Obesity phenotype can be manifested as an isolated trait or accompanied by multisystem disorders as part of a syndromic picture. In both situations, same molecular pathways may be involved to different degrees. This evidence is stronger in syndromic obesity, in which phenotypes of different syndromes may overlap. In these cases, genetic testing can unequivocally provide a final diagnosis. Here we describe a patient who met the diagnostic criteria for Alström syndrome only during adolescence. Genetic testing was requested at 25 years of age for a final confirmation of the diagnosis. The genetic diagnosis of Alström syndrome was obtained through a Next Generation Sequencing genetic test approach using a custom-designed gene panel of 47 genes associated with syndromic and non-syndromic obesity. Genetic analysis revealed a novel homozygous frameshift variant p.(Arg1550Lysfs*10) on exon 8 of the ALMS1 gene. This case shows the need for a revision of the diagnostic criteria guidelines, as a consequence of the recent advent of massive parallel sequencing technology. Indications for genetic testing reported in these currently accepted diagnostic criteria for Alström syndrome, were drafted when sequencing was expensive and time consuming. Nowadays, Next Generation Sequencing testing could be considered as first line diagnostic tool not only for Alström syndrome but, more generally, for all those atypical or not clearly distinguishable cases of syndromic obesity, thus avoiding delayed diagnosis and treatments. Early diagnosis permits a better follow-up and pre-symptomatic interventions. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Maffucci's syndrome associated with chondrosarcoma and aneurysm: case report

International Nuclear Information System (INIS)

Lim, Hyoung Gun; Yoo, Won Jong; Lim, Yeon Soo; Sung, Mi Sook; Chung, Myung Hee; Lee, Hae Giu; Jung, So Lyung; Kim, Jae Na

2002-01-01

Maffucci syndrome is rare congenital non-inherited condition characterized by multiple enchondromas and cutaneous hemangiomas. It is associated with increased risk of malignancy, including chondrosarcomas, and because of generalized mesodermal dysplasia, aneurysms can develop. We present a case of maffucci syndrome associated with intracranial chondrosarcoma and aneurysm

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

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Rudnicki, Michael; Mayr, Johannes A; Zschocke, Johannes; Antretter, Herwig; Regele, Heinz; Feichtinger, René G; Windpessl, Martin; Mayer, Gert; Pölzl, Gerhard

2016-12-01

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA Leu(UUR) . Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria. While the patient was waitlisted for heart transplantation, her kidney function deteriorated from an estimated glomerular filtration rate of 33 to 20mL/min/1.73m 2 within several months. Kidney biopsy was performed to distinguish decreased kidney perfusion from intrinsic kidney pathology. Histologic examination of the biopsy specimen showed only a moderate degree of tubular atrophy and interstitial fibrosis, but quantitative analysis of the m.3243A>G mitochondrial DNA mutation revealed high heteroplasmy levels of 89% in the kidney. Functional assessment showed reduced activity of mitochondrial enzymes in kidney tissue, which was confirmed by immunohistology. In conclusion, we describe an unusual case of MELAS syndrome with chronic kidney disease without apparent proteinuria or tubular disorders associated with Fanconi syndrome, but widespread interstitial fibrosis and a high degree of heteroplasmy of the MELAS specific mutation and low mitochondrial activity in the kidney. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Prenatal diagnosis of Neu-Laxova syndrome: a case report

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Polat Ibrahim

2002-02-01

Full Text Available Abstract Background Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS diagnosed prenatally by ultrasound examination. Case presentation A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. Conclusion Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

Nevoid Basal Cell Carcinoma Syndrome: A Case Report

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Razavi

2016-09-01

Full Text Available Nevoid basal cell carcinoma syndrome (BCNS is an autosomal dominant inherited disorder. Multiple organ systems may be affected in this syndrome including abnormalities of the skin, skeletal system, genitourinary system and central nevus system. In this report, we present a case of Nevoid basal cell carcinoma syndrome in a 26-year-old male patient. The patient had multiple odontogenic keratocyst in the posterior of mandible, syndactyly in both hand and bifid rib. After enucleation and curettage, he was followed for two years. A number of both clinical and radiological criteria are used to diagnose this syndrome. Basal cell carcinoma syndrome is diagnosed with two major criteria or one major and two minor criteria. We must suspect this disorder in young patients with multiple odontogenic keratocyst and dental abnormalities whether related or not with other clinical manifestations or familial history.

Ellis–Van Creveld syndrome in siblings: A rare case report

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Sabitha Gokulraj

2016-01-01

Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

The POEMS syndrome: Report of three cases with radiographic abnormalities

International Nuclear Information System (INIS)

Tanaka, O.; Ohsawa, T.

1984-01-01

Three cases of a unique multisystemic syndrome with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (the POEMS syndrome) are presented, along with a review of the literature. Clinical and radiographic features of this syndrome and etiological considerations are discussed. A variety of osteosclerotic lesions, nonspecific pleural effusion and ascites are characteristic radiographic manifestations. (orig.) [de

A case study on successful ayurvedic management of a rare case of reiter's syndrome

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Vaishali Kuchewar

2017-01-01

Full Text Available Reiter's syndrome is a clinical syndrome of arthritis, urethritis, conjunctivitis, and mucocutaneous lesions. Skin and mucosal involvement is observed in about 10% of the cases. A 34-year-old male was brought in severe condition. He had red colored foul smelling maculopapular skin lesions all over body, swollen and painful knee and shoulder joints. History revealed that he was suffering from Reiter's syndrome since 2003. He used to get admitted between the months of February and May every year due to aggravation of symptoms. Every time he was treated with systemic antibiotics, corticosteroids, immunosuppressants and non-steroidal anti-inflammatory drugs. He was successfully treated with external application and internal medication with tikta (bitter and kaṣāya (astringent drugs. He got significant relief in skin lesions as well as joint pain and his quality of life was markedly improved. This case study demonstrates that Reiter's syndrome can be well managed with Ayurvedic medicines.

Ambras syndrome: A rare case report

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A Ishita

2016-01-01

Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

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Salehi, Nooshin; Choi, Eric D; Garrison, Roger C

2017-01-16

BACKGROUND Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1-5% of all Guillain-Barre cases in Western countries. Patients with Miller Fisher Syndrome usually have good recovery without residual deficits. Venous thromboembolism is a common complication of Guillain-Barre Syndrome and has also been reported in Miller Fisher Syndrome, but it has generally been reported in the presence of at least one prothrombotic risk factor such as immobility. A direct correlation between venous thromboembolism and Miller Fisher Syndrome or Guillain-Barre Syndrome has not been previously described. CASE REPORT We report the case of a 32-year-old Hispanic male who presented with acute, severe thromboembolic disease and concurrently demonstrated characteristic clinical features of Miller Fisher Syndrome including ophthalmoplegia, ataxia, and areflexia. Past medical and family history were negative for thromboembolic disease, and subsequent hypercoagulability workup was unremarkable. During the course of hospitalization, the patient also developed angioedema. CONCLUSIONS We describe a possible association between Miller Fisher Syndrome, thromboembolic disease, and angioedema.

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.

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Adachi, Masanori; Tajima, Toshihiro; Muroya, Koji; Asakura, Yumi

2013-12-30

Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome.

Delleman (Oculocerebrocutaneous Syndrome: Case report

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Tomás Ortiz-Basso

2014-01-01

Full Text Available Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with microphthalmos and palpebral coloboma. As we could not put orbital expanders at an early stage, we performed reconstructive surgery.

Mazabraud's syndrome: case report and literature review

International Nuclear Information System (INIS)

Munksgaard, Peter Svenssen; Salkus, Giedrius; Iyer, Victor V; Fisker, Rune Vincents

2013-01-01

Mazabraud's syndrome is a rare disorder characterized by the association of single or multiple intramuscular myxomas with fibrous dysplasia. Here, we present the first case of Mazabraud's syndrome visualized on 18F-FDG PET/CT with histopathological confirmation of the myxoma. Our case demonstrates a slightly increased FDG uptake (SUVmax 2.1) within the myxomas and a moderately to highly increased tracer uptake (SUVmax 7.0) within the fibrous dysplastic lesions. The typical histological appearance of the intramuscular myxoma confirmed the radiological diagnosis. Further, we discuss the imaging findings and the histopathological features of this rare case with a review of the related literature

Prune Belly Syndrome: A case Report | Ezeaka | Nigerian Quarterly ...

African Journals Online (AJOL)

The Prune Belly Syndrome (PBS) is a anomaly. It comprises of a lax abdominal wall musculature, urinary tract anomalies, and cryptorchidism. Our patients had urinary tract infection and renal failure. These are well described consequences of the syndrome and are poor prognostic indices. This case report was undertaken ...

Maffucci's syndrome associated with chondrosarcoma and aneurysm: case report

International Nuclear Information System (INIS)

Lim, Hyoung Gun; Yoo, Won Jong; Lim, Yeon Soo; Sung, Mi Sook; Chung Myung Hee; Lee, Hae Giu; Jung, So Lyung; Kim, Jea NA

2002-01-01

Maffucci syndrome is a rare congenital non-inherited condition characterized by multiple enchondromas and cutaneous hemangiomas. It is associated with increased risk of malignancy, including chondrosarcomas, and because of generalized mesodermal dysplasia, aneurysms can develop. We present a case of Maffucci syndrome associated with intracranial chondrosarcoma and aneurysm

A Rare Case of Michelin Tire Baby Syndrome in a Newborn.

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Ramphul, Kamleshun; Mejias, Stephanie G; Ramphul-Sicharam, Yogeshwaree

2018-02-24

Kunze-Riehm syndrome also known as Michelin tire baby syndrome (MTBS) is a rare genetic condition with a characteristic generalized folding of excess skin. The diagnosis is usually made based on clinical symptoms. There are approximately only 30 cases reported in the literature and some cases were associated with non-cutaneous anomalies as well. Herein, we report a case of MTBS in a five-day-old male of Iraqi origin.

Modified metabolic syndrome and second cancers in women: A case control study.

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Ortiz-Mendoza, Carlos-Manuel; Pérez-Chávez, Ernesto; Fuente-Vera, Tania-Angélica De-la

2016-01-01

According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. To find out the implication of the modified metabolic syndrome in women with second cancers. This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases) and age-matched women with only one neoplasm (controls). The analysis comprised: Tumor (s), anthropometric features, and body mass index (BMI); moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 ) was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1). Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

Modified metabolic syndrome and second cancers in women: A case control study

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Carlos-Manuel Ortiz-Mendoza

2016-01-01

Full Text Available Background: According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. Aim: To find out the implication of the modified metabolic syndrome in women with second cancers. Materials and Methods: This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases and age-matched women with only one neoplasm (controls. The analysis comprised: Tumor (s, anthropometric features, and body mass index (BMI; moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. Results: The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1. Conclusion: Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

Bilateral Anterior Opercular Syndrome With Partial Kluver?Bucy Syndrome in a Stroke Patient: A Case Report

OpenAIRE

Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

2016-01-01

Bilateral anterior opercular syndrome and partial Kluver?Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersex...

Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child.

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Tandon, Sandeep; Chauhan, Yashwant; Sharma, Meenakshi; Jain, Manish

2016-01-01

Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome. Tandon S, Chauhan Y, Sharma M, Jain M. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child. Int J Clin Pediatr Dent 2016;9(3):264-268.

Dynamic ulnar impaction syndrome in tennis players: report of two cases

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Edgard de Novaes França Bisneto

Full Text Available ABSTRACT In this report, two tennis players with symptoms of ulnar impaction syndrome are reviewed. Both players have neutral ulnar variance. These cases represent dynamic ulnar impaction syndrome, when the impact between ulna and carpus occurs during conditions of pronated grip. The literature and the treatment of these two cases are discussed.

Thoracic outlet syndrome: Case report

International Nuclear Information System (INIS)

Marquez, Juan Camilo; Acosta, Mauricio Fernando; Uribe Jorge Ricardo

2009-01-01

We report a case of vascular thoracic outlet syndrome in a young man, diagnosed with upper limb arteriography, leading to repeated arterio-arterial emboli originating from a post-stenotic subclavian artery aneurysm. It is of our interest due to its low incidence and the small number of cases reported that have been diagnosed by arteriography. The thoracic outlet is the path through which vascular and neural structures goes from the neck to the axilla, and it has three anatomical strictures, that when pronounced, can compress the brachial plexus or subclavian vessels, leading to different symptoms and signs.

Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

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Majid Eshgh Pour

2013-01-01

Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

A case of piriformis syndrome presenting as radiculopathy

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Rammurthy Kulkarni

2015-01-01

Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.

Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China

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Yonghui Xia

2013-05-01

Full Text Available OBJECTIVES: Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS: Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS: All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases. CONCLUSIONS: The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis.

Imaging findings in PHACES syndrome. Case report

International Nuclear Information System (INIS)

Montes J, Natalia; Vargas V, Sergio; Gomez C, Christhian

2010-01-01

Capillary hemangiomas of infancy are the most common childhood tumors, mainly in children under 1 year old, and they usually involve the head and neck. They are usually solitary, but about 20% of the children with large cervicofacial hemangiomas will have one of the anomalies associated with PHACES syndrome. PHACES is a rare neuro cutaneous syndrome with female predominance and features such as: brain malformations in the posterior fossa, hemangiomas, arterial anomalies, coarctation of the aorta, heart defects, and ocular abnormalities. When associated with sternal slit and/or supra umbilical Raphe, it is referred to as PHACES syndrome. The case of a 4-year-old child with congenital facial hemangioma associated to the posterior fossa and with cerebral vascular anomalies is presented.

[Anticonvulsant Hypersensitivity Syndrome: A Case Report].

Science.gov (United States)

Valderrama Escudero, Felipe; Montoya González, Laura Elisa

2014-01-01

DRESS syndrome (skin reaction with eosinophilia and systemic symptoms) is an idiosyncratic drug reaction characterized by rash, fever, lymphadenopathy, and internal organ dysfunction. This case report is on a patient with bipolar affective disorder who presented with a systemic inflammatory response associated with the use of valproic acid, and an important activation of symptoms when used with other drugs with a different pharmacological action mechanism. The diagnosis of DRESS syndrome is primarily by exclusion, and its detection may be difficult, which could potentially become fatal for the patient. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Hyper Ig E syndrome (Job syndrome, HIES) – radiological images of pulmonary complications on the basis of three cases

International Nuclear Information System (INIS)

Jończyk-Potoczna, Katarzyna; Szczawińska-Popłonyk, Aleksandra; Warzywoda, Małgorzata; Bręborowicz, Anna; Pawlak, Bogdan

2012-01-01

Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex immune deficiency with multiorgan clinical manifestations and diverse genetic background. The clinical triad of symptoms observed in approximately 75% of patients with HIES includes: recurrent abscesses of staphylococcal etiology, recurrent respiratory infections and elevated immunoglobulin E in serum. The paper discusses three cases of female patients presenting typical pulmonary complications of the hyper-Ig E syndrome. In the first case, the development of aspergilloma in a postinflamatory cyst was observed, in the other one, pneumonia with pleural effusion, and as a consequence of inflammatory infiltrations – fibrotic changes, giving rise to lobectomy, while in the last of these cases, the course of lung disease was complicated by formation of staphylococcal abscess. In one of the girls, bronchiectasis appeared at follow-up. Complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Late diagnosis significantly worsens the respiratory function and reduces the chance for normal development of a child. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences. Therefore, the important role is attributed to the radiologist in the multidisciplinary care of patients with this syndrome

Progeria syndrome: A case report

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Rastogi Rajul

2008-01-01

Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

Wolf–Hirschhorn syndrome – a case report

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Halyna Bulak

2017-06-01

Full Text Available Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p. Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. The patient from our case report was hospitalised at the Lviv City Children’s Hospital at the age of six hours in a severe condition, with distinctive features of a genetic syndrome, which was connected with intraventricular haemorrhage. At the age of three months, he showed delayed physical and neurocognitive development and a characteristic appearance, which led to a specialist consultation to diagnose the genetic disease. This time, on the basis of clinical, laboratory and instrumental findings, the boy was diagnosed with Wolf–Hirschhorn syndrome.

Use of Hemadsorption in a Case of Pediatric Toxic Shock Syndrome

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Andrea Berkes

2017-01-01

Full Text Available Background. Toxic shock syndrome is a potentially fatal toxin-mediated disease. The role of toxins in this clinical entity made us hypothesize that extracorporeal blood purification with CytoSorb® could play a beneficial role in the clinical management of toxic shock syndrome. This case report describes the successful treatment of toxic shock syndrome using a combination of renal replacement therapy and hemadsorption in a pediatric patient. Case Presentation. A 5-year-old girl with Down’s syndrome presented with an inflamed area surrounding an insect bite, signs of systemic inflammation, and multiple organ failure. As previous attempts of immune modulation therapy were unsuccessful, renal replacement therapy was supplemented by the cytokine absorber CytoSorb. Treatment using this combination was associated with a rapid and significant stabilization in the hemodynamic situation and a decrease in inflammatory mediators within hours after the initiation of therapy. The application of CytoSorb therapy was simple and safe. Conclusion. The use of extracorporeal blood purification with CytoSorb proved potentially beneficial by removing toxins and inflammatory mediators in this case and could therefore play a role in the clinical management of toxic shock syndrome. Whether CytoSorb has the potential to even positively influence mortality in patients with toxic shock syndrome still needs to be confirmed.

Mirizzi syndrome associated with hepatic artery pseudoaneurysm: a case report

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Anderson Oliver

2008-11-01

Full Text Available Abstract Introduction This is the first case report of Mirizzi syndrome associated with hepatic artery pseudoaneurysm. Case presentation A 54-year-old man presented with painful obstructive jaundice and weight loss. Computed tomography showed a hilar mass in the liver. Following an episode of haemobilia, angiography demonstrated a pseudoaneurysm of a branch of the right hepatic artery that was embolised. At surgery, a gallstone causing Mirizzi type II syndrome was found to be responsible for the biliary obstruction and a necrotic inflammatory mass and haematoma were found to be extending into the liver. The mass was debrided and drained, the obstructing stones removed and the bile duct drained with a t-tube. The patient made a full recovery. Conclusion This case highlights another situation where there may be difficulty in differentiating Mirizzi syndrome from biliary tract cancer.

Churg-Strauss Syndrome associated with montelukast: Three Case Reports

Directory of Open Access Journals (Sweden)

Fatih Yildiz

2014-04-01

Full Text Available Churg-Strauss syndrome (new name Eosinophilic granulomatosis and polyangiitis; asthma, fever, peripheral blood eosinophilia, eosinophilic tissue infiltration, small and medium sized arteries characterized by necrotizing granulomatous inflammation is a multisystemic disorder. Classified in ANCA associated vasculitis. The drugs such as leukotriene receptor antagonists (montelukast, zafirlukast, pranlukast, inhaled glucocorticoids, omalizumab, cocaine and clarithromycin is thought to be associated with Churg-Strauss Syndrome cases have been reported. Herein we presented a rare three CSS cases associated with montelukast. [Cukurova Med J 2014; 39(2.000: 347-352

A rare case of short stature: Say Meyer syndrome

OpenAIRE

Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

2013-01-01

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.

Science.gov (United States)

Franco, E; Hodgson, S; Lench, N; Roberts, G J

1995-03-01

A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3. The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX). Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.

Ellis-van Creveld syndrome in an Indian child: a case report

Energy Technology Data Exchange (ETDEWEB)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth [Yenepoya Dental College, Yenepoya University, Mangalore (India)

2011-12-15

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Ellis-van Creveld syndrome in an Indian child: a case report

International Nuclear Information System (INIS)

Veena, K.M.; Jagadishchandra, H.; Rao, Prasanna Kumar; Chatra, Laxmikanth

2011-01-01

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Budd-Chiari Syndrome: Two Cases with Different Courses

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Shinjiro Inomata

2008-08-01

Full Text Available We report two cases of Budd-Chiari syndrome. Case 1: A 57-year-old man presented with leg edema and esophageal varices. Cavography showed obstruction of the inferior vena cava with antiphospholipid syndrome. Further, the patient showed positive serology for hepatitis C virus and consumed large quantities of alcohol. Percutaneous transluminal angioplasty was performed on this patient and anticoagulants administered; leg edema and esophageal varices were ameliorated although liver biopsy showed cirrhosis without evident congestion. More than 9 months since the diagnosis, restenosis of the inferior vena cava has not occurred. Case 2: A 73-year-old woman presented abdominal pain but no edema or varices. Cavography showed membranous obstruction of the inferior vena cava which required no therapy. Manifestation of portal hypertension was not present and liver function was maintained although liver biopsy showed obvious congestion. These cases showed untypical features against histopathology, and careful observation will be required for emergence of hepatocellular carcinoma.

Endoscopic Carpal Tunnel Release using a modified application technique of local anesthesia: safety and effectiveness

Directory of Open Access Journals (Sweden)

Al-Khayat Jehad

2008-04-01

Full Text Available Abstract Background Local anesthesia is widely used for open carpal tunnel release. However, injection of local anesthesia as described by Altissimi and Mancini (1988 can interfere with endoscopic carpal tunnel release, by increasing the bulk of synovial layers and consequently result in worsening of the view. Purpose The purpose of this study was to evaluate the safety, efficacy using modified technique for application of local anesthesia. Methods 33 patients suffering from gradual increasing symptoms of carpal tunnel syndrome. The patients were also asked to evaluate the pain associated with injection as well as tourniquet during surgery using Visual Analogue Scale (VAS (ranging from 0 = no pain to 10 = maximum pain. Results One patient required additionally local anesthesia because of mild pain in the hand. The tourniquet was inflated for 13.00 (2.8 min. The pain score related to injection was 2.5 (0.8 and to tourniquet was 3.6 (0.9. Inflation of the tourniquet was well tolerated by all patients. Postoperative neurological sensory and motor deficits related to surgery and local blocks were not occurred. Conclusion Endoscopic release of the carpal tunnel syndrome in local anesthesia is effective, well tolerated and safe. This kind of application of local anesthesia did not reduce visibility.

An unusual case of ectopic ACTH syndrome.

Science.gov (United States)

Willhauck, M J; Pöpperl, G; Rachinger, W; Giese, A; Auernhammer, C J; Spitzweg, C

2012-02-01

Ectopic ACTH-syndrome is a rare cause of Cushing's disease. Despite extensive diagnostic procedures the source of ACTH secretion often remains occult. This case describes a 45-year old woman with an ectopic Cushing's syndrome. Extensive imaging procedures including CT scan of chest and abdomen, octreotide scan and MRI of the chest and pituitary did not reveal the source of ACTH secretion. In consideration of an occult source of ACTH secretion we started a therapeutic trial with cabergoline (0.5 mg/d), a dopamine receptor agonist, which has been shown to be effective in ectopic Cushing's syndrome. 2 months after cabergoline treatment had been initiated, ACTH and cortisol levels normalized in association with significant improvement of the clinical symptoms. During follow-up a [(68)Ga-DOTA-dPhe(1), Tyr(3)]-octreotate ([(68)Ga-DOTA]-TATE) PET-CT was performed revealing a somatostatin receptor positive lesion in the right sphenoidal sinus suggesting the source of ACTH secretion. The patient was cured by transnasal resection of the polypoid lesion, which was immunohistochemically characterized as an ACTH-positive neuroendocrine tumor. This case report demonstrates the management of ectopic ACTH-syndrome by molecularly -targeted therapy with dopamine receptor -agonists as well as improved detection of the ectopic ACTH source by novel imaging modalities, such as [(68)Ga-DOTA]-TATE PET specifically targeting somatostatin receptor subtype-2 with high affinity. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome: a case report

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He Anguang

2011-09-01

Full Text Available Abstract Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.

Piriformis syndrome caused by extraosseous osteosarcoma. Case report

International Nuclear Information System (INIS)

Takemoto, Harumasa; Ishizaki, Yoshitaka; Ri, Taishin; Ito, Katsuya; Nagano, Tatsuo; Kitada, Chikara; Tamai, Masamitsu; Morishita, Toru

2003-01-01

We experienced a case of extraosseous osteosarcoma in an irradiated area, which showed the same symptom that piriformis syndrome revealed. This is a case report of a patient, forty-nine years old female. She was given radiation therapy in total dose of 50 Gy after total removal of ovarium and uterus with a diagnosis of the uterine cervix. She complained of pain at the lower extremity from early in January, 2002. Because of increase in pain, she consulted Higashiosaka City General Hospital. On examination, sciatic nerve disturbance was shown, X-ray and computed tomography showed ossification on the portion of the piriformis muscle. Removal of the tumor was done, and the pathological diagnosis as extraosseous osteosarcoma. It is considered that this present case is classified into radiation-induced extraosseous osteosarcoma, which was arisen after a relatively long, silent latent period since radiation was followed. Because it developed in a cartilage tissue in front of the piriformis muscle and infiltrated into the sciatic nerve, it is considered that this case is extremely rare as the case that revealed piriformis syndrome. (author)

Treating a case of Savant syndrome

OpenAIRE

Busuttil, Joseph

1994-01-01

Memory and artistic prodigies among the population at large are uncommon; among the mentally retarded, they are rarer still. This article describes the treatment of such a case, technically known as the Savant Syndrome, seen by occupational therapists at Mount Carmel Psychiatric Hospital and treated over a period of 18 years.

A new case of keratoconus associated with Williams-Beuren syndrome.

Science.gov (United States)

Viana, Melissa Machado; Frasson, Maria; Leão, Letícia Lima; Stofanko, Martin; Gonçalves-Dornelas, Higgor; Cunha, Pricila da Silva; de Aguiar, Marcos José Burle

2013-09-01

Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. To report a new patient with keratoconus and Williams-Beuren syndrome. This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.

A case report of Wyburn-Mason syndrome and review of the literature

International Nuclear Information System (INIS)

Dayani, P.N.; Sadun, A.A.

2007-01-01

Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi. We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973. In this review, we report on a 41/2-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome. The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation. (orig.)

Arteriohepatic Dysplasia (Alagille Syndrome in a Child (Clinical Case

Directory of Open Access Journals (Sweden)

Ye.V. Omelchenko

2015-03-01

Full Text Available The article presents a clinical case of a child with a rare nosology — Alagille syndrome. Among the causes of neonatal cholestasis, Alagille syndrome is ranked second, it occurs with an incidence of 1 per 70,000 of newborns. This syndrome is characterized by an insufficient number or by a small dia­meter of intrahepatic bile ducts, which carry bile from the liver. Alagille syndrome includes a combination of at least three of the five main symptoms: chronic cholestasis, cardiovascular defects, abnormalities of the spine, eye defects, typical craniofacial signs. The only definitive therapy with the formation of liver cirrhosis and without gross defects is liver transplantation.

Happle-tinschert syndrome: Report of a case with hemimegalencephaly

Energy Technology Data Exchange (ETDEWEB)

Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet [Mersin University Faculty of Medicine, Mersin (Turkmenistan)

2014-08-15

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

Happle-tinschert syndrome: Report of a case with hemimegalencephaly

International Nuclear Information System (INIS)

Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet

2014-01-01

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

Wolfram syndrome: Case report | Atipo-Tsiba | East African Medical ...

African Journals Online (AJOL)

The third type or Wolfram-like syndrome is autosomal dominant, differs from the first two by the late onset of optic atrophy and diabetes mellitus type 1 (after adolescence) and hearing impairment is not always present. We report the first documented case of Wolfram syndrome at the University Hospital of Brazzaville in a nine ...

Early diagnosis of Gorlin-Goltz syndrome: case report.

Science.gov (United States)

Casaroto, Ana R; Loures, Daniela C N Rocha; Moreschi, Eduardo; Veltrini, Vanessa C; Trento, Cleverson L; Gottardo, Vilmar D; Lara, Vanessa S

2011-01-25

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

Use of a Novel Abdominal Aortic and Junctional Tourniquet to Reduce or Eliminate Flow in the Brachial and Popliteal Arteries in Human Subjects.

Science.gov (United States)

Lyon, Matthew; Johnson, Daniel; Gordon, Richard

2015-01-01

Penetrating injuries of the proximal large arteries are a common cause of death on the battlefield due to rapid exsanguination. Applying an effective tourniquet to stop bleeding at the axillary and proximal femoral arteries (junctional sites) is difficult. Prior studies have shown that the Abdominal Aortic and Junctional Tourniquet (AAJT) effectively reduced blood flow in the common femoral artery with application of the device around the lower abdomen. Our objective was to determine the effectiveness of the AAJT to stop blood flow in the proximal femoral artery (PFA), and the axillary artery (AA). This was a prospective observational trial using human volunteers. The AAJT consists of a wedge-shaped bladder and integrated strap. The bladder has an integrated manometer, which is used to measure the pressure in the bladder. For the AA, the AAJT was placed over the axillary junction at the anterior axillary line with the strap placed across the contralateral shoulder. For the PFA, the AAJT bladder was placed over the right groin with the strap positioned across both femoral trochanters. Spectral Doppler measurements were taken of the PFA and AA at baseline and as the bladder was inflated. Collected data included pressure of the AAJT.

Sjogren-Larsson syndrome: Report of two cases

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Uppal Monica

2004-03-01

Full Text Available Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia, mental retardation and ophthalmologic examination showing glistening foveal and parafoveal dots.

A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

LENUS (Irish Health Repository)

Chan, Jeffrey C Y

2008-01-01

Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis.

Science.gov (United States)

Suzumura, H; Sakurai, K; Kano, K; Ichimura, T

1996-10-01

A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.

Neonatal marfan syndrome: report of two cases.

Science.gov (United States)

Ghandi, Yazdan; Zanjani, Keyhan S; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima

2013-02-01

Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.

Eagle Syndrome Causing Vascular Compression with Cervical Rotation: Case Report

International Nuclear Information System (INIS)

Demirtaş, Hakan; Kayan, Mustafa; Koyuncuoğlu, Hasan Rıfat; Çelik, Ahmet Orhan; Kara, Mustafa; Şengeze, Nihat

2016-01-01

Eagle syndrome is a condition caused by an elongated styloid process. Unilateral face, neck and ear pain, stinging pain, foreign body sensation and dysphagia can be observed with this syndrome. Rarely, the elongated styloid process may cause pain by compressing the cervical segment of the internal carotid and the surrounding sympathetic plexus, and that pain spreading along the artery can cause neurological symptoms such as vertigo and syncope. In this case report we presented a very rare eagle syndrome with neurological symptoms that occurred suddenly with cervical rotation. The symptoms disappeared as suddenly as they occurred, with the release of pressure in neutral position. We also discussed CT angiographic findings of this case. Radiological diagnosis of the Eagle syndrome that is manifested with a wide variety of symptoms and causes diagnostic difficulties when it is not considered in the differential diagnosis is easy in patients with specific findings. CT angiography is a fast and effective examination in terms of showing compression in patients with the Eagle syndrome that is considered to be atypical and causes vascular compression

Functional Deficits and Insulin-Like Growth Factor-I Gene Expression Following Tourniquet-Induced Injury of Skeletal Muscle in Young and Old Rats

Science.gov (United States)

2008-07-31

phenomenon. aging; insulin-like growth factor-I; ischemia-reperfusion; muscle re- generation; sarcopenia OVER 20,000 operating room tourniquet (TK...occurring in elderly patients, the postsurgical I/R injury ensu- ing TK application is a notable concern to the elderly popula- tion. With this demographic... elderly population can lead to loss of independence, as the individual loses the ability to perform necessary daily routines. This affliction is a

[H syndrome: First reported paediatric case in Latin America].

Science.gov (United States)

Abarca Barriga, Hugo Hernán; Trubnykova, Milana; Polar Córdoba, Victoria; Ramos Diaz, Katherine Joyce; Aviles Alfaro, Nélida

H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. To present a clinical case with "typical" characteristics of H Syndrome. The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Spontaneous Pneumothorax in Birt-Hogg-Dube' Syndrome: Two Case Reports

Energy Technology Data Exchange (ETDEWEB)

Bae, Hyoung Ju; Woo, Ok Hee; Yong, Hwan Seok; Kang, Eun Young; Kim, Hyun Koo; Choi, Young Ho; Shin, Bong Kyung; Kim, Yoon Kyung [Korea University School of Medicine, Korea University Guro Hospital, Seoul (Korea, Republic of)

2011-01-15

Birt-Hogg-Dube'(BHD) syndrome is a rare autosomal dominant inherited disorder that is characterized by skin fibrofolliculomas, renal tumors and multiple lung cysts with or without spontaneous pneumothorax. The disease is caused by germline mutations in the FLCN gene that codes for a protein of unknown function called folliculin. Patients with BHD syndrome do not always have all three manifestations of the skin, kidney and lung. To the best of our knowledge, there has been no case report of the radiologic findings of the lung manifestation in a patient with BHD syndrome in Korea. We report here on two cases of BHD syndrome that presented with spontaneous pneumothorax. The pulmonary abnormalities consisted of multiple thin-walled cysts of various sizes and shapes in both lungs

Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

International Nuclear Information System (INIS)

Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

2015-01-01

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management

Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

Energy Technology Data Exchange (ETDEWEB)

Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali [Dept. of Conservative Dentistry and Endodontics, Manubhai Patel Dental College, Maharaja Krishnakumarsinhji Bhavnagar University, Vadodara (India)

2015-09-15

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.

Science.gov (United States)

Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

2015-09-01

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

Internal mammary artery aneurysm in Marfan syndrome: case report

Energy Technology Data Exchange (ETDEWEB)

Common, A A; Pressacco, J; Wilson, J K [Univ. of Toronto, Dept. of Mecial Imaging, Toronto, Ontario (Canada)

1999-02-01

Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

Internal mammary artery aneurysm in Marfan syndrome: case report

International Nuclear Information System (INIS)

Common, A.A.; Pressacco, J.; Wilson, J.K.

1999-01-01

Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

Portal hypertension as the initial manifestation of POEMS syndrome: a case report.

Science.gov (United States)

Wu, Lina; Li, Yue; Yao, Fang; Lu, Chongmei; Li, Jian; Zhou, Weixun; Qian, Jiaming

2017-01-01

Portal hypertension has a broad differential diagnosis. POEMS syndrome is an uncommon cause of it. POEMS syndrome is a rare disease involving multiple organs. In differential diagnosis of portal hypertension, POEMS syndrome should be considered especially when other symptoms such as numbness, organomegaly, endocrine alteration and skin changes also present, as it is highlighted by our case. We report a 46-year-old Chinese male, a teacher, presenting with portal hypertension. Electromyography revealed peripheral neuropathy. Immunofixation showed monoclonal immunoglobulin A lambda protein. The diagnosis of POEMS syndrome was established. After treatment of lenalidomide combined with dexamethasone over 2 years, the patient achieved a considerable improvement. This case highlights the manifestation of portal hypertension in POEMS syndrome. Lenalidomide with or without dexamethasone is effective for portal hypertension due to POEMS syndrome, though esophageal and gastric varices seems not reversible so easily.

A case of orbital apex syndrome due to Pseudomonas aeruginosa infection

Directory of Open Access Journals (Sweden)

Takeshi Kusunoki

2011-11-01

Full Text Available Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

Transient Bone Marrow Edema Syndrome (Case Report

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Nilnur Konuralp

2003-09-01

Full Text Available Transient bone marrow edema syndrome (BMES is accepted as a possible cause of acute disabling hip pain. This syndrome is defined as local osteoporosis in hip in radiographies, BME in MRI which can be rarely seen and has a self-limiting course. Although the disease generally has a self-limiting course, surgical treatment by early core decompression of the femoral head has proven effective in rapidly relieving the symptoms. Although BMES is relatively rare and probably underdiagnosed when compared to nontraumatic osteonecrosis, both conditions are associated with known osteonecrosis risk factors in middle aged men and especially with late (thirdhad trimester pregnancy in women. We have reported three cases with BMES that had different etiology and followed up presented the differential diagnosis to nontraumatic avascular osteonecrosis. These three cases were treated in early stage very succesfully.

Gorlin Goltz syndrome: A clinicopathological case report

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Shobha C Bijjaragi

2014-01-01

Full Text Available The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and / or plantar pits, calcification of the falx cerebri, and is occasionally associated with internal malignancies. It is fundamental to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome. Here we report a case of a 30-year-old male with major and minor features of the Gorlin-Goltz syndrome, such as, strabismus, barrel-shaped chest, with drooping shoulders and mild kyphosis, polydactyly, hypertelorism, multiple basal cell carcinomas, calcification of the falx cerebri, C5-C7 bifida spine, and fusion of T1 and T2.

The association between prune belly syndrome and dental anomalies: a case report.

Science.gov (United States)

Basso, Maria Daniela; Favretto, Carla Oliveira; Cunha, Robson Frederico

2012-12-18

Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.

Ekiri syndrome: a report of 13 cases

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Rahbarimanesh AA

2009-02-01

Full Text Available "nBackground: Ekiri syndrome or lethal toxic encephalopathy is a complication of shigellosis with dysentery, hyperpyrexia, seizures, headache and altered level of consiousness, which rapidly progresses to death. These children die at the beginning of the disease (8-48 hours from the beginning of symptoms, from brain edema. However they had no symptoms or signs of sepsis, dehydration, DIC or Hemolytic Uremic Syndrome (HUS. "nMethods: This survey is a case series study of children with Ekiri syndrome in Bahrami hospital from October 1998-2008 presented with loss of consciousness, colitis and high fever shortly after admission. Information about the patients was gathered from the documents according to physical signs and symptoms, lab data of those whom Ekiri syndrome had been diagnosed for them. Studied variables in this assessment were age, sex, fever, convulsions and loss of consciousness. Headache, encephalopathy, dehydration, elevated ICP, colitis, underline disease, stool, blood and CSF cultures. "nResults: The subjects contain 13 cases (10 male, 3 female, averaged 30/5 months of age. All had seizure, elevated ICP, encephalopathy and coma. All of the patients had fever between 39 and 40, averaged 39.5 degree of centigrade. Seven patients had headache and three ones was dehydrated. The first presentation symptom in three patients was gastroenteritis, in 9 was siezure and in 1 patient was headache. Stool culture in all patients was positive, but blood culture was positive in only one of them. CSF culture was negative in all of the patients. Mortality was 100%. "nConclusion: Symptoms, signs and presentation of Ekiri syndrome, a rare complication of infection with shigella, in the patients in Bahrami hospital was similar with the other studies beforehand in other countries. In this study, all the patients were died and supportive treatments were ineffective.

Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family

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Parvaneh Karim-Zadeh

2006-04-01

Full Text Available Sjogren–Larsson Syndrome (SLS is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy. This is a rare syndrome that caused by mutation in the ALDH3A2 gene, on chromosome 17p11.2. That encodes fatty aldehyde dehydrogenase (FAIDH, an enzyme that catalyzes the oxidation of medium – long chain aldehydes derived from lipid metabolism. Neuroimaging (MRI shows retardation of myelination and a mild myelin deficit. Proton Magnetic Resonance Spectroscopy (MRS shows the peak of lipids that accumulate because of fatty alchohols. We report two cases that they are siblings from relative parents. The Brother is 4 years old and his sister is 3 years old. , The clinical findings are developmental delay, mental retardation, spastic Tetraplegia and refractory seizure. The most important finding in these two siblings was generalized Icthyosis. MRI showed hyper signality in white matter and MRS showed the peak of accumulated lipids that confirmed the diagnosis of "Sjogren-Larsson Syndrome".

GAPO syndrome : a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis

NARCIS (Netherlands)

Bacon, W; Hall, RK; Roset, JP; Boukari, A; Tenenbaum, H; Walter, B

1999-01-01

The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. The 29-year-old male under discussion presents all the typical features of the syndrome, having short stature, dysmorphic craniofacial features. total alopecia and pseudoanodontia. Orally,

Recurrent hydramnios as a result of fetal Bartter′s syndrome (a case report.

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Shah M

1991-04-01

Full Text Available Bartter′s syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter′s syndrome on both occasions is presented.

Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report.

Science.gov (United States)

Lu, Yuxin; Milchgrub, Sara; Khatri, Gaurav; Gopal, Purva

2017-05-01

Lynch syndrome is a hereditary disease with germline mutation in a DNA mismatch repair gene, most often presenting with colorectal and/or endometrial carcinomas; however, the spectrum of Lynch syndrome-associated tumors is expanding. In this article, we report a case of a primary peritoneal epithelioid mesothelioma that developed in a Lynch syndrome patient 10 months after diagnosis of uterine endometrioid adenocarcinoma. To our knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma.

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

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K Nagaraju

2011-01-01

Full Text Available Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.

Hermansky-Pudlak syndrome: A case report

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R Vani

2014-01-01

Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

A rare case of Charlin's syndrome

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Mohit P Singh

2017-01-01

Full Text Available Charlin's syndrome is an extremely rare condition characterized by pain in the nasal and paranasal areas, which is precipitated by touching the lateral aspect of the ipsilateral nostril. We are presenting one such case of a 42-year-old man who was admitted to Dr. Chaudhary Hospital and Medical Research Centre.

Meckel Gruber syndrome, A case report

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Aslan, Kiper; Külahçı Aslan, Elif; Orhan, Adnan; Atalay, Mehmet Aral

2015-01-01

ABSTRACT. Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies. PMID:26037304

SMART Syndrome: Case report of a rare complication after cerebral radiation therapy

International Nuclear Information System (INIS)

Truntzer, P.; Salze, P.; Monjour, A.; Gaultier, C.; Ahle, G.; Guillerme, F.; Boutenbat, G.; Atlani, D.; Stilhart, B

2012-01-01

The authors report a 71-year-old woman case who developed, 7 years after a cerebral radiation therapy for a parieto-occipital glioblastoma, a stroke-like migraine attacks after radiotherapy syndrome (SMART syndrome), a rare complication characterized by reversible neurologic deficits with migraine described after cerebral irradiation. Transient gyri-form reversible enhancement is found on MRI during crises. This case report allows discussing the clinical, iconographic presentation and the clinical outcome of this syndrome at the light of the literature publication. (authors)

Early diagnosis of Gorlin-Goltz syndrome: case report

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Trento Cleverson L

2011-01-01

Full Text Available Abstract The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

A Case Report of Proteinuria with Sjogren's Syndrome

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Jong-jin Jeong

2008-12-01

Full Text Available Objective : Sjogren's Syndrome is a chronic inflamatory disorder characterized by lymphocytic infiltration of lacrimal and salivary gland. It may be associated with renal disease such as tubulonephritis or glomerulonephritis. Proteinuria is a kidney disorder resulting in an abnormally high amount of protein in the urine. When the glomeruli are damaged, proteins of various sizes pass through them and are excreted in the urine. This report is a case of proteinuria with Sjogren's Syndrome. Methods : The patient was diagnosed as kidney yang deficiency syndrome and treated with Woogyu-eum, Sa-am acupuncture therapy and bee venom acupuncture therapy. Visual Analog Scale was used to estimate the clinical symptoms. Results : Clinical symptoms and proteinuria were improved without steroid therapy. Conclusion Therefore, we concluded that oriental medical therapy may be useful to treat proteinuria with Sjogren's Syndrome.

Axenfeld-Rieger syndrome (ARS): A review and case report.

LENUS (Irish Health Repository)

Waldron, Jennie M

2011-08-29

Axenfeld-Rieger syndrome (ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This is a case report of a 7-year-old Caucasian female with ARS who presented with significant ocular and dental anomalies. She was also found to have osteopenia. Her dental condition is described, her immediate treatment is shown, and her long-term treatment needs are discussed.

Sirenomelia: The mermaid syndrome: Report of two cases

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Samal, Sunil Kumar; Rathod, Setu

2015-01-01

Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth. PMID:25810681

Sirenomelia: The mermaid syndrome: Report of two cases.

Science.gov (United States)

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth.

Prune belly syndrome in an adult Nigerian: case report.

Science.gov (United States)

Salako, A A; Takure, A O; Olajide, A O; Aarowolo, O A; Egberongbe, A A

2009-12-01

Prune Belly Syndrome is a rare congenital anomaly characterized by deficient anterior abdominal wall musculature, bilateral cryptorchidism, bilateral megaureters and often unilateral or bilateral vesico-ureteric junction obstruction. The report of prune belly syndrome in the adult is scanty. We report a case of prune belly syndrome in a 24 year old Nigerian who presented with 3 year history of recurrent right loin pain. Examination showed wrinkled abdominal skin, bilateral undescended testes and an hypoplastic rectus abdominis, below the umbilicus. Further evaluation revealed enlarged bladder, bilateral megaureters and right intra-abdominal testis. A diagnosis of Prune Belly Syndrome was made. The challenges in the diagnosis and management of this rare condition are highlighted in this presentation.

A case-control evaluation of fungiform papillae density in burning mouth syndrome.

Science.gov (United States)

Naud, Jason M; Benca, Laura; Drangsholt, Mark T; LeResche, Linda; Coldwell, Susan E

2018-04-01

It has been hypothesized that high fungiform papillae density may be a risk factor for developing the taste and pain alterations characteristic of burning mouth syndrome. Evaluate whether fungiform papillae density, taste sensitivity, and mechanical pain sensitivity differ between burning mouth syndrome cases and controls. This case-control study compared cases diagnosed with primary burning mouth syndrome with pain-free controls. Participants (17 female cases and 23 female controls) rated the intensity of sucrose, sodium chloride, citric acid, and quinine applied separately to each side of the anterior tongue and sampled whole mouth. Mechanical pain sensitivity was assessed separately for each side of the tongue using weighted pins. Digital photographs of participants' tongues were used to count fungiform papillae. Burning mouth syndrome cases had increased whole mouth taste intensity. Cases also had increased sensitivity to quinine on the anterior tongue, as well as increased mechanical pain sensitivity on the anterior tongue. Fungiform papillae density did not differ significantly between cases and controls. Fungiform papillae density on the left and right sides of the tongue were correlated in controls; however, there was no left/right side correlation in cases. Cases had increased pain and taste perception on the anterior tongue. The lack of correlation between left and right fungiform papillae density in cases may be an indication of asymmetrical lingual innervation in these patients. 3b. Laryngoscope, 128:841-846, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

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Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

2011-11-05

To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

Gorlin-Goltz Syndrome: case report and review of literature

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Adrianne Rahde Bischoff

2014-10-01

Full Text Available Description of a case report of Gorlin-Goltz Syndrome diagnosed in a male newborn who presented increased head circumference and bifid ribs. Mother and grandmother presented typical physical findings of the syndrome, including palmar pits, odontogenic cysts, and history of multiple skin cancer resections. The diagnosis was based on clinical findings of three relatives. A literature review is also presented.

Serotonin syndrome associated with sertraline use: case report

OpenAIRE

Bárbara Werner Griciunas; Norton Yoshiaki Kitanishi; Renata Carvalho de Souza; Daniel Azevedo Cavalcante; Leonardo Mattiolli Marini

2017-01-01

Case report of serotonin syndrome in patient who initiated the use of sertraline at a dose greater than twice the recommended for the treatment of psychotic depression. The patient presented contracture of the limbs, puzzled look, mutism and blood pressure 230x110 mmHg. The syndrome is increasingly common, although it is not well recognized. Many medications can cause it and this possibility should be considered in patients taking serotonergic drugs presenting autonomic or mental disorders an...

Hepatic infarction in HELLP syndrome; a case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Mi Jeong; Kim, Hong [Keimyung Univ. School of Medicine, Taegu (Korea, Republic of)

2000-11-01

Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect.

Hepatic infarction in HELLP syndrome; a case report

International Nuclear Information System (INIS)

Kim, Mi Jeong; Kim, Hong

2000-01-01

Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect

Concurrent insulinoma with mosaic Turner syndrome: A case report.

Science.gov (United States)

Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

2015-03-01

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

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Biazzo, Alessio; Di Bernardo, Andrea; Parafioriti, Antonina; Confalonieri, Norberto

2017-08-23

Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a 28-year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome. Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.

Moebius syndrome and narcolepsy: A case dissertation

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Lídia Sabaneeff

2014-03-01

Full Text Available Moebius syndrome (MS is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.

First Case Report of Prader–Willi-Like Syndrome in Colombia

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Estephania Candelo

2018-03-01

Full Text Available Background: Prader–Willi-like syndrome (PWLS is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11–q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome.Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1–q21.Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

First Case Report of Prader-Willi-Like Syndrome in Colombia.

Science.gov (United States)

Candelo, Estephania; Feinstein, Max M; Ramirez-Montaño, Diana; Gomez, Juan F; Pachajoa, Harry

2018-01-01

Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome. Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1-q21. Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.

Science.gov (United States)

Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

2013-01-01

A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome.

Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report

OpenAIRE

Tsukamoto, Masanori; Yamanaka, Hitoshi; Yokoyama, Takeshi

2017-01-01

Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn ...

Serotonin syndrome:case report and current concepts.

LENUS (Irish Health Repository)

Fennell, J

2005-05-01

Selective serotonin reuptake inhibitors (SSRI\\'s) are increasingly being used as the first line therapeutic agent for the depression. It is therefore not unusual to see a case of overdose with these agents. More commonly an adverse drug reaction may be seen among the older patients who are particularly vulnerable to the serotonin syndrome due to multiple co-morbidity and polypharmacy. The clinical picture of serotonin syndrome (SS) is non-specific and there is no confirmatory test. SS may go unrecognized because it is often mistaken for a viral illness, anxiety, neurological disorder or worsening psychiatric condition.

Nicolau Syndrome after Intramuscular Injection: 3 Cases

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Seok-Kwun Kim

2012-05-01

Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemicnecrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristicpattern is pain around the injection site, developing into erythema, a livedoid dermatitispatch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients wereinjected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patientscomplained of pain, and a skin lesion was observed, after which necrosis developed on theirbuttocks. Each patient underwent debridement and coverage. The wound healed uneventfully.We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscularinjection.

Scoliosis in Steinert syndrome: a case report.

Science.gov (United States)

Themistocleous, George S; Sapkas, George S; Papagelopoulos, Panayiotis J; Stilianessi, Eugenia V; Papadopoulos, Elias Ch; Apostolou, Constantinos D

2005-01-01

Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. A 17-year-old boy presented with King type II right thoracic scoliosis (T5-T11, Cobb angle of 40 degrees) and hypokyphosis--10 degrees. He was treated with posterior stabilization and instrumentation at level T3-L2 with a postoperative correction of the scoliotic curve to 20 degrees. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia.

Primary Sjögren′s syndrome without ocular involvement: A rare case report

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Tushar Phulambrikar

2014-01-01

Full Text Available Sjögren′s Syndrome (SS is a chronic systemic autoimmune disorder, characterized by the lymphocytic infiltration of lacrimal and salivary glands, giving rise to dry eyes (keratoconjunctivitis sicca and dry mouth (xerostomia. Primary Sjögren′s Syndrome commonly presents only with sicca manifestations; whereas, secondary Sjögren′s syndrome occurs in connection with other autoimmune rheumatic diseases. Primary Sjögren′s syndrome without ocular manifestation is rarely reported in the literature. Here we report a case of a 45-year-old female, who presented to us with complaints of dryness of mouth and dysphagia, without any ocular and systemic manifestations. On further evaluation she was diagnosed as a case of Primary Sjögren′s syndrome. With this case report, we intend to emphasize the importance of an early diagnosis of this disorder, along with a brief review of various diagnostic criteria.

A Single Case of Tourette’s Syndrome Treated with Traditional Chinese Medicine

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Min-Hwa Lee

2017-02-01

Full Text Available The objective of this case study was to investigate the effectiveness of Chinese medicine in treating Tourette's syndrome. Tourette's syndrome is a childhood- onset disorder that is characterized by sudden, involuntary movements or tics. The participant in this study was a 33-year-old male who had been diagnosed with Tourette's syndrome at the age of 9 years. His major complaints included facial tics, shoulder shrugging, and clearing the throat. Using a combination of acupuncture, herbs, Gua-Sha, and lifestyle changes once a week for 35 treatments, all the symptoms were reduced by 70%, as reported by the patient. In this case, the results indicated that Chinese medicine was able to minimize the symptoms of Tourette's syndrome. Further investigation is needed to support this argument. Tourette's syndrome, which was first described in 1885 by a French physician named Gilles de la Tourette, is characterized by facial tics, involuntary body movements from the head to the extremities, or vocal tics, and it usually has its onset in childhood. It is a neuropsychiatric disorder. The treatment for Tourette's syndrome is based on pharmacological treatment, behavior treatment, and deep brain stimulation. Unfortunately, none of these could completely control the symptoms; furthermore, antipsychiatric drugs might cause additional side effects, such as Parkinson symptoms, tardive dyskinesia, and metabolic disturbances. Finding acupuncture and oriental medicine literature on treatment of Tourette's syndrome was difficult, especially that written in English. Some research papers that have been translated into English indicated that Chinese herbs and acupuncture could reduce the tics significantly. For example, a study by Dr Pao-Hua Lin reported the significant effects of using acupuncture and oriental medicine in treating 1000 Tourette's syndrome cases. This case was treated to further investigate the principles of Dr Lin's study.

Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature

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Takaya, Kazuhiko; Kimura, Natsumi; Hiyoshi, Toru

2016-01-01

We herein report the case of a 38-year-old Japanese woman with antithyroid arthritis syndrome who experienced severe migratory polyarthritis after the initiation of thiamazole therapy. The patient's symptoms promptly disappeared without any sequelae after the withdrawal of the drug. Antithyroid arthritis syndrome is poorly characterized, and the findings from our literature review indicate that this syndrome exhibits serological features that are distinct from those of antithyroid agent-induced vasculitis syndrome. The absence of autoantibodies, especially anti-neutrophil cytoplasmic antibodies, may help characterize and diagnose antithyroid arthritis syndrome. Furthermore, physicians' awareness of this syndrome is essential for its diagnosis in clinical practice. PMID:27980264

Waardenburg Syndrome: A Case Study of Two Patients.

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Sharma, Karan; Arora, Archana

2015-09-01

Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child's hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome.

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.

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Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

2017-09-01

Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation. The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members. In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS. © 2016 John Wiley & Sons Ltd.

Case report: Guillain-Barre syndrome with pneumococcus - A new association in pediatrics.

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Khatib, Hassan El; Naous, Amal; Ghanem, Soha; Dbaibo, Ghassan; Rajab, Mariam

2018-01-01

Guillain-Barre Syndrome, an acute flaccid paralysis known to be caused by recent Gastro-intestinal infections mainly campylobacter, and Respiratory infections mainly mycoplasma pneumoniae and influenza. One reported case of severe invasive pneumococcal disease in a 68 year old female, that presented with Austrian's triad of meningitis, pneumonia and endocarditis, and progressed to develop Guillain Barre syndrome, an association never been documented before. We present a case of 13 year old male, presented with hypoactivity and inability to bare his own weight, developed septic shock due to pneumococcus with Acute Respiratory Distress Syndrome, and was found to have neurological findings of Guillain-Barre Syndrome. A new association in pediatric age group, never been reported before.

Gorlin-Goltz Syndrome: Case report and literature review.

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Ramesh, Maya; Krishnan, Ramesh; Chalakkal, Paul; Paul, George

2015-01-01

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities.

Kinky hair syndrome - a case report -

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Yeon, Kyung Mo; Kim, In One; Chi, Je G.; Moon, Hyung Ro

1986-01-01

Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severe neuro degenerative change and infant death. In 1962, Menges and associates described five boys of a related pedigree with severe psychomotor retardation, seizures and widespread cerebral and cerebellar degeneration. In 1969, Weissenberg and associates specified the radiological characterization of the syndrome. Symmetrical metaphyseal spurring and diaphyseal periosteal reaction of the long bones, anterior rib flaring, a malformed cerebral arterial system and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect of copper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinical picture, and report cerebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSA and post-mortem angiography.

WERNER SYNDROME: A NEW CASE REPORT

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Faida Ajili

2013-10-01

Full Text Available “Werner’s syndrome” or premature aging syndrome is a rare autosomal recessive genetic disease. It is responsible of several complications related to age, including atherosclerosis and association with cancer. We report the case of a 36 year-old-patient, admitted to department of Internal Medicine of the military hospital of Tunis for suspicion of systemic sclerosis. The patient had all the major signs of Werner syndrome (bilateral cataract, sclerotic skin, “bird face”, baldness, small size, parental consanguinity and 4 minor signs (type 2 diabetes, hypogonadism, squeaky voice, and flat feet. She has also a brother with the same morphotype died at the age of 32 by a myocardial infarction. The current follow-up time is 9 years..

[Asperger syndrome with highly exceptional calendar memory: a case report].

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Sevik, Ali Emre; Cengel Kültür, Ebru; Demirel, Hilal; Karlı Oğuz, Kader; Akça, Onur; Lay Ergün, Eser; Demir, Başaran

2010-01-01

Some patients with pervasive developmental disorders develop unusual talents, which are characterized as savant syndrome. Herein we present neuropsychological examination and brain imaging (fMRI and brain SPECT) findings of an 18-year-old male with Asperger syndrome and highly unusual calendar memory. Neuropsychological evaluation of the case indicated mild attention, memory, and problem solving deficits, and severe executive function deficits that included conceptualization, category formation, and abstraction. Functional MRI findings showed activation above the baseline level (Psavant syndrome.

Chronic Granulomatous Tolosa-Hunt Syndrome (Case Report

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Dewa Purwa Samatra

2016-04-01

Full Text Available Background: Tolosa-Hunt syndrome is a rare case, characterized by tenderness, persistent around the affected eye and ophthalmoplegia /paresis caused by granulomatous inflammation in the cavernous sinus region, supra orbital or orbital fissure. Although spontaneous remission may occur, even corticosteroid therapy has a very satisfactory effect. However, relapse can occur after remission. We report a case of granulomatous Tolosa-Hunt syndrome in women aged 47 years who suffer from recurrent Tolosa-Hunt syndrome attacks for 4 years on his left eye, there was a significant recovery after receiving steroid therapy. Case:  We report A 47 years old with recurrent pain in the left eye since 4 years, pain episode duration of 1-2 weeks, accompanied by double vision when having long or short distance viewing, and when climbing stairs. The patient left eye was protruded with blurred vision and difficulty in distinguishing green color. Left eye examination vision 1/300, green color discromatopsia, normal funduscopic, ptosis, with paresis eye movement toward the superior, inferior, nasal and temporal. C-reactive protein and erythrocyte sedimentation rate were slightly elevated. ANA test was positive. In visual evoked potential, it showed latency elongation of the left face. Head MRI with contrast showed a isointense protrusion on the left cavernous sinus in axial cuts in T1 and T2. Head MRI T1 with contrast on coronal, axial cuts showed the appearance of convex lesions around the left cavernous sinus that enhanced with contrast. Conclusions: The result was clinically and radiographically diagnosed as Tolosa-Hunt Syndrome (THS. Therefore, 10 mg dexamethasone therapy, 4 times a day for 3 days was lowered to three times on day 4, 2 times on the fifth day and one time at day 6. The patient showed clinical improvement. The patient continued 48 mg oral methylprednisolone therapy up to 3 weeks which then gradually decreased and planned head MRI 3 months later.

Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

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Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

2014-04-02

Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

[Coffin-Siris syndrome. Critical study of the literature apropos of a case].

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Foasso, M F; Hermier, M; Descos, B; Collet, J P; Perron, F

1983-03-01

The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

A case of melanocytic cervical adenosquamous carcinoma complicated with Cushing's syndrome.

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Chen, Y; Zhang, Y; Wang, L; Yang, X

2017-01-01

To date, cervical carcinoma complicated with Cushing's syndrome were all diagnosed as small cell carcinoma histo- logically, but not adenosquamous carcinoma. Here the authors present the diagnosis, management, and prognosis of a case of melanocytic cervical adenosquamous carcinoma complicated with Cushing's syndrome. A 28-year-old woman was admitted with the chief complaint of post-coital bleeding for one month. Gynecological examination revealed a nodular yellowish-pigmented vegetation (6x5 cm) on the cervix. Laboratory findings proved the diagnosis of Cushing's syndrome. Histopathological diagnosis showed the adenosquamous carcinoma with melanoma differentiation. Immunohistochemical stainings for melanoma A and anti- adrenocorticotropic hormone (ACTH) were positive in the majority of the tumor cells, which indicated that this melanocytic cervical carcinoma lesion was the source of ectopic ACTH production resulting in Cushing's syndrome. This is a unique case of a rare type of cervical carcinoma.

A case of refeeding syndrome in a marine recruit.

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Bunge, Paul D; Frank, Laura L

2013-04-01

Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

Clinical and radiological findings in a case of non-syndromic oligodontia

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Jimenez Carrillo, Francisco J.

2002-01-01

A case of congenital absence of eleven dental pieces without association to syndromes is presented. An integral clinical examination of the patient's dental pieces has determined a case of oligodontia. Congenital absence of all permanent teeth described in the clinical examination are presented by orthopantomography radiography. Impressions with irreversible hydrocolloid are realized to complete the diagnostic. The case described of oligodontia has developed without presenting relation to some syndrome as Down syndrome or ectodermal dysplasia. Genes have played a very important role in the etiology of dental anomalies, according to the existing evidence. Mutation has been identified as the cause of dental defects in some of the genes in humans. The maxillary teeth developed in the marginal areas of the dental lamina have pretended to be the dental pieces more susceptible to be without form [es

[Wernicke-Korsakoff syndrome secondary to cytomegalovirus encephalitis: A case report].

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Uribe, Luis Guillermo; Pérez, María Alejandra; Lara, Camilo Andrés; Rueda, Natalia; Hernández, Javier Augusto

2017-12-01

Cytomegalovirus (CMV) is one of the opportunistic microorganisms with the highest prevalence in immunocompromised patients. Reactivation has decreased after the introduction of highly active antiretroviral therapy (HAART). Encephalitis has been reported in the coinfection as one of the most frequent presentations.We present the case of a young adult patient with HIV infection and rapid neurological deterioration due to classic clinical symptoms and signs of the Wernicke-Korsakoff syndrome, with no risk factors for thiamine deficiency, with images by nuclear magnetic resonance typical of the syndrome, and identification of cytomegalovirus in cerebrospinal fluid. The specific treatment for CMV managed to control the symptoms with neurological sequelae in progression towards improvement.This is one of the few cases reported in the literature of Wernicke syndrome secondary to cytomegalovirus encephalitis.

Mesothelioma of the testis and nephrotic syndrome: a case report

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Bacchetta Justine

2009-06-01

Full Text Available Abstract Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution.

Interventional therapy for nutcracker syndrome (report of 6 cases)

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Xia Xiangwen; Liang Huimin; Fang Gansheng; Zhao Long; Huang Rui

2008-01-01

Objective: To study the imaging features of nutcracker syndrome (compression of left renal vein), and to assess the value of the interventional therapy for this disease. Methods: The clinical data of 6 cases of nutcracker syndrome undertaken interventional therapy were collected to analyze the clinical features, imaging characteristics and interventional therapeutic value together with comprehensive literatures. Results: The imaging appearance of the 6 cases showed typical left renal vein compression. The average in between angle of superior mesenteric artery(SMA)and abdominal aorta(At)was 20.6 degree ± 4.04 degree in MPR reconstructed imaging of CTA. The blood pressure gradient between proximal and distal compression sites was(6.4 ± 0.36) cmH 2 O. No complications of displacement and defluxion and restenosis occurred after stenting for a year. The subjective symptoms of the 6 patients improved significantly. Conclusion: Endovascular stenting is a safe, mini-traumatic and effective therapy for nutcracker syndrome. (authors)

Laugier-Hunziker syndrome: A case report.

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Wei, Z; Li, G-Y; Ruan, H-H; Zhang, L; Wang, W-M; Wang, X

2018-04-01

Laugier-Hunziker syndrome (LHS) is a rare, benign, acquired pigmentary condition mainly affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. Herein, we reported a 45-year-old female case with LHS. The clinical, dermoscopic, histopathologic features of LHS were reviewed and the important differential diagnosis was discussed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

PRKAR1A-negative familial Cushing's syndrome: two case reports.

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Lim, Lee Ling; Kitan, Normayah; Paramasivam, Sharmila Sunita; Ratnasingam, Jeyakantha; Ibrahim, Luqman; Chan, Siew Pheng; Tan, Alexander Tong Boon; Vethakkan, Shireene Ratna

2015-12-01

Determining the etiology of Cushing's syndrome is very challenging to endocrinologists, with most of the difficulty arising from subtype differentiation of adrenocorticotropic hormone-dependent Cushing's syndrome. We present the pitfalls of evaluating a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome in the transition period between adolescence and adulthood. A sibling pair with familial isolated primary pigmented nodular adrenocortical disease is described. The index case, a 20-year-old Chinese woman, presented with premenopausal osteoporosis with T12 compression fracture and young hypertension. Biochemical analysis confirmed adrenocorticotropic hormone-independent Cushing's syndrome (elevated 0800 h plasma cortisol 808 nmol/L with suppressed adrenocorticotropic hormone level Cushing's syndrome at age 18 years, with typical cushingoid habitus, but no osteoporosis or hypertension. His adrenal computed tomographic scans showed micronodularities over bilateral adrenal glands. He was successfully treated with bilateral adrenalectomy. Screening for Carney's complex and PRKAR1A gene mutation was negative. Signs and symptoms of Cushing's syndrome resolved after bilateral adrenalectomy for both patients. They were placed on lifelong glucocorticoid and mineralocorticoid replacement therapy and long-term surveillance for Carney's complex. The cases of these two patients illustrate the difficulties involved in diagnosing primary pigmented nodular adrenocortical disease, a variant of adrenocorticotropic hormone-independent Cushing's syndrome that is managed with bilateral adrenalectomy. A high index of suspicion for this disease is needed, especially in adolescents with adrenocorticotropic hormone-independent Cushing's syndrome who have a significant family history, features of Carney's complex, and no resolution of Cushing's syndrome after unilateral adrenalectomy. Patients with primary pigmented nodular adrenocortical disease can either have

Usher syndrome associated with Fuchs’ heterochromic uveitis: a case report

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Turan-Vural E

2011-04-01

Full Text Available Ece Turan-Vural, Banu Torun-Acar, Nejla Tükenmez, M Şahin Sevim, Bulent Buttanri, Suphi AcarOphthalmology Clinic, Haydarpasa Numune Education and Research Hospital, Istanbul, TurkeyAbstract: We report a case of Usher syndrome in association with unilateral Fuchs' heterochromic uveitis.Keywords: Fuchs’ heterochromic uveitis, Usher syndrome, deafness, blindness

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

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Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

A case of the corpus callosum and alien hand syndrome from a discrete paracallosal lesion.

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Faber, Raymond; Azad, Alvi; Reinsvold, Richard

2010-08-01

Here we present a patient with an isolated paracallosal brain lesion who exhibited behavioral changes associated with the corpus callosum syndrome (CCS) including features of the alien hand syndrome (AHS). The CCS is also known as the split-brain syndrome, the syndrome of hemisphere disconnection, the syndrome of brain bisection and the syndrome of the cerebral commissures. Because most reported cases of CCS were caused by tumors which extended beyond the corpus callosum (CC) and did not always induce a complete disconnection, there was much controversy about the role of the CC and the existence of a specific CCS. Aside from surgically based cases, the full complement of the CCS is infrequently clinically encountered. The patient described has a classic CCS from natural causes. This case report is unique in exhibiting a complete CCS with AHS secondary to an ischemic event affecting the left pericallosal region. To our knowledge this is the first case report of such a combination.

Anesthetic management of Shah–Waardenburg syndrome: Experience of two cases and review of literature

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Ambi, Uday S.; Adarsh, E. S.; Hatti, Ramesh; Samalad, Vijaymahantesh

2012-01-01

Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah–Waardenburg syndrome and discuss them in the context of review of previously published cases. PMID:22754447

A Case of Churg-Strauss Syndrome Associated with Antiphospholipid Antibodies

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Ferenczi, Katalin; Chang, Timothy; Camouse, Melissa; Han, Rujing; Stern, Robert; Willis, Joseph; Cooper, Kevin D.; Gilliam, Anita C.

2008-01-01

BACKGROUND Churg-Strauss syndrome (CSS) is a systemic vasculitis affecting small and medium-sized blood vessels, almost invariably affecting the lung and frequently associated with cutaneous involvement. Microvascular vaso-occlusion leading to digital gangrene is not a feature of CSS. OBSERVATIONS We report an unusual case of a patient with Churg Strauss Syndrome with antiphospholipid antibodies who developed severe digital gangrene in addition to cutaneous vasculitis. CONCLUSION The presence of antiphospholipid antibodies is not a feature usually seen in association with Churg-Strauss syndrome. While the full clinical spectrum of Churg Strauss Syndrome is still being defined, identification of additional features associated with this syndrome might help to better understand the pathogenesis of the disease and to have an impact on management and prognosis. PMID:17175066

A Case of Loeffler's Endocarditis Associated with Churg-Strauss Syndrome

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Seo, Jeong-Sook; Kim, Dae-Hee; Kang, Duk-Hyun; Song, Jae-Kwan

2010-01-01

Loeffler's endocarditis is generally caused by hypereosinophilic syndrome. It is a restrictive cardiomyopathy characterized with eosinophilia and eosionophilic penetration leading to the fibrous thickening of endocardium of both ventricles, apical obliteration and heart failure. We report a case of a 23-year-old male with Loeffler's endocarditis caused by Churg-Strauss syndrome. The echocardiogram showed that biventricular failure with large thrombus in left ventricle. His symptoms and typical echocardiographic findings markedly improved within 2 months after treatment for Churg-Strauss syndrome. PMID:20661332

Primary Sjogren Syndrome: Case report

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Eylem Yaman Pinarci

2013-08-01

Full Text Available The importance of systemic evaluation of dry eye patients and choosing appropriate treatment based on the severity of disease were emphasized with this case. 48 years old woman complained about decreased vision, burning, itching in both eyes which got worse over the years, for about 20 years. Schirmer I test value was 0 mm/5min in both eyes. Slit lamp examination revealed filamentary keratitis in both eyes. Anti-Ro/ SSA, anti-La/ SS-B antibodies and salivary gland biopsy for Sjogren syndrome were positive. Temporary punctal occlusion and oral hydroxychloroquine were added to her treatment. After 10 days, her overall dry eye condition improved and permanent punctual plugs were inserted in both lower puctums.Dry eye patients should be evaluated systemically and severity of disease should be considered before treatment is started. Addition to topical application of artificial tears, punctal occlusion may be a proper option in dry eye patients with Sjogren syndrome. [Cukurova Med J 2013; 38(4.000: 818-822

Aicardi syndrome: a case report and radiologic findings

International Nuclear Information System (INIS)

Granzotto, Enrico; Prado, Cecilia Hissae Miyake Almeida; Barros, Andre Della Barba; Botter, Carlos Eduardo; Mendes, Rozana de Miranda; Granzotto, Ticiana

2008-01-01

The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

Cases of Churg-Strauss syndrome in patients receiving montelukast

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Petrović Jelena

2012-01-01

Full Text Available Churg-Strauss syndrome is a rare disorder, but in patients with asthma it may develop as an adverse effect of the administered drugs. The aim of this study was to investigate possible causal relationship between montelukast and the occurrence of Churg-Strauss syndrome. Medical literature was reviewed by searching the databases 'Medline' and 'Googlescholar', in order to detect published cases of Churg-Strauss syndrome associated with use of montelukast. In this article is included 13 publications which contain the following keywords: montelukast, Churg-Strauss syndrome and side effects. Relationship between use of montelukast and development of Churg-Strauss syndrome was not clearly causal, although montelukast was associated with development and relapse of the syndrome. This fact supports the hypothesis that leukotriene antagonists are involved in the pathogenesis of this serious disease. Special attention should be paid to appearance of new symptoms in an asthmatic patient, already treated with corticosteroids, who start receiving leukotriene antagonists, especially if the dose of corticosteroids is reduced. Definitive confirmation or rejection of the hypothesis that leukotriene antagonists are directly involved in the development of this syndrome require further investigations.

Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

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Rachid, Myriam L; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas-Poussou, Rosa; Mahieu-Caputo, Dominique; Oury, Jean-François; Muller, Françoise

2016-09-01

Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.