scholarly journals Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study

2018 ◽  
Vol 49 (03) ◽  
pp. 193-199 ◽  
Author(s):  
Daniel Ebrahimi-Fakhari ◽  
Ludwig Gortner ◽  
Martin Poryo ◽  
Michael Zemlin ◽  
Alfons Macaya-Ruiz ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Symptoms ◽  
Medical Center ◽  
Interquartile Range ◽  
University Hospital ◽  
Cardiac Rhabdomyoma ◽  
Cutaneous Manifestations ◽  
Ocular Manifestations ◽  
Made In

AbstractTuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982–2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998–2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement. A definite diagnosis was made in 52 patients (96%), and a possible diagnosis was made in 2 patients (4%). Thirty-four (63%) patients were from HVH and 20 (37%) from UKS. Median age at first presentation was 6 months (interquartile range: 0–38 months), and median time of follow-up was 6 years (interquartile range: 2–13 years). Clinical symptoms that led to a diagnosis of TSC were cardiac rhabdomyoma (22/54), epilepsy (20/54), and cutaneous manifestations (4/54). Assessment of neuropsychiatric, renal, and ocular manifestations was inadequate in both hospitals, whereas cutaneous manifestation was inadequate at UKS only. Our data demonstrate insufficient examinations in a substantial number of TSC patients with regard to neuropsychiatric, renal, ocular, and cutaneous manifestations. The recently published guidelines may prove valuable in establishing a more comprehensive approach.

scholarly journals Multiple Koenen Tumors, a Rare Entity: Combination Treatment with 1% Topical Sirolimus Electrofulguration and Excision

2020 ◽  
Vol 7 (1) ◽  
pp. 66-70
Author(s):  
Vishalakshi Viswanath ◽  
Jay D. Gupte ◽  
Niharika Prabhu ◽  
Nilima L. Gour
Keyword(s):  
Tuberous Sclerosis ◽  
Combination Treatment ◽  
Tumor Regression ◽  
Surgical Excision ◽  
Tumor Formation ◽  
Rare Entity ◽  
Rare Presentation ◽  
Cutaneous Manifestations ◽  
Elderly Female

<b><i>Introduction:</i></b> Koenen tumors are benign, cutaneous manifestations of tuberous sclerosis. These are disfiguring, painful, and challenging to treat as they frequently recur. We report a case of long-standing, multiple Koenen tumors affecting all twenty nails in an elderly female who was successfully treated with a combination of topical sirolimus 1%, surgical excision, and electrofulguration. <b><i>Case Report:</i></b> A 57-year-old lady presented with multiple, asymptomatic periungual, and subungual tumors affecting all twenty nails since 27 years. Cutaneous examination revealed confetti macules, ash-leaf macule, and shagreen patch over trunk. Nail biopsy was compatible with Koenen’s tumor. Computerized tomography of brain showed diffuse patchy sclerosis. The tumors were treated with topical sirolimus 1% ointment for 10 months with excellent regression. Electro­fulguration for both great toenails and surgical excision of right thumbnail periungual fibroma was done. 1% sirolimus was advised after the surgical treatment. There were no adverse effects or recurrence of tumors over a 2-year follow-up. <b><i>Discussion:</i></b> Topical sirolimus 1% was effective in tumor regression and preventing new tumor formation. Larger tumors that interfered in daily chores were treated with excision and electrofulguration. Thus, a combination treatment for this rare presentation of tuberous sclerosis provided optimum results.

scholarly journals Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience

2017 ◽  
Vol 5 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Hana Bejiqi
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Fetal Echocardiography ◽  
Tumour Size ◽  
Primary Tumour ◽  
Postnatal Period ◽  
Single Centre ◽  
Cardiac Rhabdomyoma ◽  
Ultrasound Evaluation

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

Electrocardiographic changes in patients with cardiac rhabdomyomas associated with tuberous sclerosis

2003 ◽  
Vol 13 (3) ◽  
pp. 258-263 ◽  
Author(s):  
Junko Shiono ◽  
Hitoshi Horigome ◽  
Seiyo Yasui ◽  
Tomoyuki Miyamoto ◽  
Miho Takahashi-Igari ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Left Ventricular Hypertrophy ◽  
Tuberous Sclerosis ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Cardiac Rhabdomyoma ◽  
Ventricular Cavity ◽  
Electrocardiographic Changes

Background:Cardiac rhabdomyomas associated with tuberous sclerosis induce various abnormalities in the electrocardiogram. Electrocardiographic evidence of ventricular hypertrophy may appear if the tumour is electrically active. To our knowledge, electrocardiographic evidence of ventricular hypertrophy has been reported only in association with congestive heart failure. Follow-up studies of changes in electrocardiographic findings are also lacking.Methods:We studied 21 consecutive patients with cardiac rhabdomyoma associated with tuberous sclerosis, 10 males and 11 females, aged from the date of birth to 9 years at diagnosis. The mean period of follow-up was 53 months. None of the patients developed congestive heart failure. We evaluated the electrocardiographic changes during the follow-up, and their association with echocardiographic findings.Results:Of the 21 patients, 12 showed one or more abnormalities on the electrocardiogram at presentation, with five demonstrating right or left ventricular hypertrophy. In all of these five cases, the tumours were mainly located in the respective ventricular cavity. In one patient with a giant tumour expanding exteriorly, there was marked left ventricular hypertrophy on the electrocardiogram. Followup studies showed spontaneous regression of the tumours in 12 of 19 patients, with abnormalities still present in only 7 patients. A gradual disappearance of left ventricular hypertrophy as seen on the electrocardiogram was noted in the patient with marked left ventricular hypertrophy at presentation in parallel with regression of the tumour.Conclusions:The presence of cardiac rhabdomyomas in patients with tuberous sclerosis might explain the ventricular hypertrophy seen on the electrocardiogram through its electrically active tissue without ventricular pressure overload or ventricular enlargement, although pre-excitation might affect the amplitude of the QRS complex. Even in cases with large tumours, nonetheless, the electric potential might not alter the surface electrocardiogram if the direction of growth of the tumour is towards the ventricular cavity. In many cases, electrocardiographic abnormalities tend to disappear, concomitant with regression of the tumours.

scholarly journals Five Predictors Affecting the Prognosis of Patients with Severe Odontogenic Infections

2020 ◽  
Vol 17 (23) ◽  
pp. 8917
Author(s):  
Nathalie Pham Dang ◽  
Candice Delbet-Dupas ◽  
Aurélien Mulliez ◽  
Laurent Devoize ◽  
Radhouane Dallel ◽  
...  
Keyword(s):  
Intensive Care ◽  
Psychiatric Disorders ◽  
Clinical Symptoms ◽  
Simple Procedure ◽  
Odontogenic Infection ◽  
Conditional Inference ◽  
Penicillin Allergy ◽  
University Hospital ◽  
Mandibular Molar

Background: Dental cellulitis management is no longer a simple procedure, as more and more patients are needing long-time hospitalization, several surgeries and intensive care follow-up. This prospective study seeks to highlight criteria that can split patients with severe odontogenic infection into two groups: those with simple evolution and those for whom complex management is necessary. Methods: In this observational study, all patients considered with a severe odontogenic infection (which necessitated hospital admission, intravenous antibiotics and general anaesthesia) were enrolled between January 2004 and December 2014 from Clermont-Ferrand University Hospital (France). They were split into two groups: those who needed one surgical intervention with tooth extraction and collection drainage combined with probabilistic antibiotic to treat infection and those who need several surgeries, intensive care unit follow-up or tracheotomy to achieve healing. Results: 653 patients were included, of which 611 (94%) had one surgery, 42 (6%) had more than one surgery before healing. Penicillin allergy (p < 0.001), psychiatric disorders (p = 0.005), oropharyngeal oedema (p = 0.008), floor oedema (p = 0.004), fever (p = 0.04) and trismus (p = 0.018) on admission were the most relevant predictors of complex evolution. A conditional inference tree (CTREE) illustrated the association of prognostic factors and the need of multiple surgery. Conclusions: Besides clinical symptoms of severity, complications of severe odontogenic infection are predicted by measurables and objectives criteria as penicillin allergy, mandibular molar, C-reactive protein level, psychiatric disorders and alcohol abuse. Their specific association potentialize the risks. IRB number: CE-CIC-GREN-12-08.

Venous Insufficiency 4 Years after an Episode of Deep Vein Thrombosis: A Clinical and Plethysmographic Investigation

1998 ◽  
Vol 13 (2) ◽  
pp. 53-58
Author(s):  
M. Nordström ◽  
B. Lindblad ◽  
H. Åkesson ◽  
D. Bergqvist ◽  
T. Kjellström
Keyword(s):  
Deep Vein Thrombosis ◽  
Venous Insufficiency ◽  
Outcome Measure ◽  
Clinical Symptoms ◽  
University Hospital ◽  
Vein Thrombosis ◽  
Venous Function ◽  
Deep Vein ◽  
Symptoms And Signs

Objective: To evaluate the frequency of venous insufficiency following deep vein thrombosis (DVT). Design: Follow-up 4 years after a verified DVT. Setting: University hospital in Malmö. Patients: Eighty-seven subjects with venographically verified DVT. Main outcome measure: To compare venous function in legs, with and without previous DVT, by venous straingauge plethysmography and its correlation with clinical symptoms and signs. Results: Fifty-two per cent of patients described general discomfort from the thrombotic leg at follow-up. Active leg ulcers were found in three patients (3%); there were no signs of venous insufficiency in 33% at clinical examination. Thirty-seven patients (75%) with ≥ 1 cm difference in calf circumference between the thrombotic and contralateral leg had suffered a proximal DVT. The refilling time T90 was pathological in 67% and the muscle pump function (RV) in 55%. In the nonthrombotic leg the corresponding figures were 53% and 40%. Nevertheless a positive correlation was found between RV of the thrombotic leg and the contralateral leg ( r = 0.33) but an even stronger correlation was found for T90 ( r = 0.74). Conclusion: Venous insufficiency was found in 60% of legs 4 years after DVT but was also found in 14% of legs without previous thrombosis. This may be caused not only by effects of the thrombosis but also by the ageing process.

scholarly journals Vogt-Koyanagi-Harada syndrome: Experience in a Belgian university hospital and review of the literature

2017 ◽  
Vol 4 (2) ◽  
pp. 53
Author(s):  
Liza Sels ◽  
Joachim Van Calster ◽  
Steven Vanderschueren ◽  
Liesbet Henckaerts
Keyword(s):  
Diagnostic Yield ◽  
Immunosuppressive Treatment ◽  
University Hospital ◽  
Multisystem Disorder ◽  
Timely Initiation ◽  
Ocular Manifestations ◽  
Time To Recurrence ◽  
Skin Symptoms ◽  
Lymphocytic Meningitis

Introduction: The Vogt-Koyanagi-Harada syndrome (VKHS) is rare in Europe. Bilateral panuveitis is the defining characteristic, but the disease can affect other tissues containing melanin, such as the inner ear, the meninges, and the skin. Therefore, patients may present not only to ophthalmologists, but also to internists, dermatologists, ENT-physicians and neurologists. Early and aggressive immunosuppressive treatment is necessary in order to prevent permanent visual loss or systemic complications.Objective: We retrospectively studied 12 patients diagnosed and treated in a specialized uveitis clinic in Leuven (Belgium) between 2005 and 2013, and we compared our data with literature.Results:  The most common extra-ocular manifestations were neurological, with headache (100%) and lymphocytic meningitis (75%) as main findings. Tinnitus was present in 50%, and vertigo in 42%. Vitiligo was the most frequent dermatological manifestation and present in 42%. Uveitis recurred in 67% of patients with 1 to 4 relapses per patient and a median time to recurrence of 6 months (range 1-11). Normal visual acuity was seen in 75% of patients at the end of follow-up (5 to 60 months), but 3 patients had at least some degree of permanent visual impairment in at least one eye.Conclusion: VKHS is a rare, multisystem disorder, characterized by bilateral uveitis and variable neurologic, auditory and skin symptoms. A lumbar puncture increases the diagnostic yield. A fast diagnosis allows timely initiation of adequate therapy, and If treated correctly, VKHS has a favorable prognosis. It is unclear if initial intravenous therapy improves frequency and time to remission.

scholarly journals Clinical Characteristics And Prognosis of Vasovagal Syncope With Sinus Arrest In Children

2021 ◽  
Author(s):  
Rui Sun ◽  
Yingying Kang ◽  
Yeshi Chen ◽  
Xiaohui Li ◽  
Mingming Zhang ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Clinical Symptoms ◽  
Vasovagal Syncope ◽  
Interquartile Range ◽  
Autonomic Nerve ◽  
Sinus Arrest ◽  
Oral Rehydration ◽  
Autonomic Nerve Function ◽  
Oral Rehydration Salts

Abstract The aim of this study was to analyze the clinical characteristics and prognosis of vasovagal syncope(VVS) with sinus arrest in children. From July 2017 to October 2020, cases of VVS with sinus arrest were recruited from patients diagnosed as VVS in our department. The clinical data, the results of the head-up tilt testing (HUTT), and follow-up information were analyzed. 223 patients were diagnosed as VVS during the time, and 10 cases of VVS with sinus arrest were recruited, who had a median age of 9.5 years（interquartile range: 6.8 to 10.4 years), a gender ratio of 1:1, and median sinus arrest time of 7.7s(range: 3.39 to 19s). These patients were given oral rehydration salts and orthostatic training, as well as 2 children treated with metoprolol and 5 children with sertraline hydrochloride. No child was implanted with pacemakers. During a median of 26 months of follow-up (interquartile range: 21 to 33 months), only one of the children had once syncope episode, three children had 1~4 times of prodromal symptoms. Conclusion The present research most crucial finding was that VVS patients with sinus arrest in children were younger than ordinary pediatric VVS patients. Oral rehydration salts(ORS) and autonomic nerve function exercise may improve clinical symptoms in children with VVS accompanied by sinus arrest. Pacemakers for VVS with sinus arrest in children should be cautious.

Abstract 220: Impact of a Cardiology-managed, Non-emergency Department, Outpatient Observation Unit

2018 ◽  
Vol 11 (suppl_1) ◽  
Author(s):  
Karen Cajiao ◽  
Joseph Wallins ◽  
Peter Zimetbaum ◽  
Michael Gavin
Keyword(s):  
Emergency Department ◽  
Discharge Rate ◽  
Medical Center ◽  
Tertiary Care ◽  
Direct Access ◽  
Observation Units ◽  
Phone Calls ◽  
Final Disposition ◽  
Made In

Background: With the progress emergency department (ED) observation units have made in reducing admissions for cardiac conditions, we previously reported a discharge rate of only 23.7% (n=1,549/6,546) from our ED, without an observation stay, for these patients. We opened a Cardiac Direct Access (CDAc) unit at a tertiary care urban medical center hypothesizing that cardiologists can reduce testing and observation stays for appropriate cardiac patients. Methods: Patients are referred to the CDAc for evaluation on an emergent (same day) or urgent (within 7 day) basis. We performed a retrospective review of 629 consecutive patients referred to the CDAc between November 2016 and June 2017. Final disposition was determined using charge data. The 30-day return rate to an ED, hospital, or the CDAc was determined by follow-up phone calls and chart review. Results: Patients were referred by non-cardiologists (n=403/629, 64%) and cardiologists (n=226/629, 36%). The most common indications for evaluation were chest pain, arrhythmia, and suspected heart failure. Disposition of patients evaluated in the CDAc are reported in the figure. The mean length of stay in CDAc observation was 22+/-13 hours. Among the 574 patients discharged from the CDAc, 62 (11%) were seen in an ED and/or hospitalized, while 31 (5.4%) were seen in the CDAc within 30 days. Conclusion: A CDAc unit may serve as a high value alternative to the ED. Further research can help assess comparative cost-effectiveness and refine patient selection.

Kikuchi Disease in Korean Children: Clinical Features and Disease Courses.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2285-2285 ◽  
Author(s):  
Jun Eun Park ◽  
Hyun Joo Jung ◽  
Chul-Ho Kim ◽  
Jeong Hong ◽  
Jae Ho Han
Keyword(s):  
Lymph Node ◽  
Lymph Nodes ◽  
Medical Center ◽  
University Hospital ◽  
First Episode ◽  
Excision Biopsy ◽  
Cervical Lymph Nodes ◽  
Korean Children ◽  
Presenting Symptoms

Abstract OBJECTIVES: Kikuchi’s disease (KD) is a benign, self-limiting disorder of unknown origin with lymphadenopathy and fever, and prevalent in young Asian women. The initial presentations mimic malignancies or other serious infections, and the biopsy of lymph nodes affected is the only definite diagnostic tool of KD. We analyzed data from a series of pediatric cases collected at a single medical center and suggest proper guideline of management for patients with KD. METHODS: The medical records of children under 16 years of age, who underwent lymph node biopsies and received histiopathologic diagnosis of KD at Ajou University Hospital, South Korea from January 2000 to June 2007, were retrospectively reviewed. RESULTS: Twenty six pediatric patients with KD included 10 boys and 16 girls. In all cases except two, the cervical lymph nodes were involved. Twenty (76.9%) patients had fever as a presenting symptom, and 5 patients (19.2%) had various skin rash. Leukopenia was noted in 8 cases (30.8%), but there was no case of leukocytosis. The levels of ESR and LDH were slightly elevated, but CRP and liver enzymes were within normal range. No KD patients in this study developed any other autoimmune disorders during follow-up period. Eleven (55%) cases with fever improved immediately after excision biopsy of affected lymph nodes. Eight (30.8%) cases treated with steroid showed dramatic responses. Six patients (23.1%) had resolutions of symptoms simply with symptomatic treatments. The recurrence happened in 6 (23.1%) children within a few weeks from the first episode. CONCLUSIONS: Contrary to previous reports on Asian cases, KD in Korean children is not rare in young boys, and fever is more common presenting symptoms. It’s relationship with autoimmune diseases or infection of EBV is not clear. Symptoms such as fever improved in some cases only by the removal of affected lymph node for excision biopsy. In agreement with previous reports, patients treated with steroid recovered dramatically. Therefore, we suggest an earlier excision biopsy for patients suspicious with KD and an immediate treatment of cases with severe symptoms with steroid. The recurrence rate in this study was higher than that in previous studies, therefore, a spell of follow-up period after disappearance of symptoms is advisable for patients with original diagnosis of KD.

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