scholarly journals SAT0495 LONG TERM OUTCOME OF JUVENILE IDIOPATHIC ARTHRITIS IN ADULTHOOD; THE MONOCENTRIC EXPERIENCE OF 520 PATIENTS FOLLOWED FOR 20 YEARS IN A TRANSITION TERTIARY CLINIC OF PEDIATRIC RHEUMATOLOGY.

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1204.2-1204
Author(s):  
I. Pontikaki ◽  
S. Carbogno ◽  
F. Corona ◽  
A. Petaccia ◽  
R. Cimaz
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Educational Level ◽  
Disease Duration ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Term Outcome ◽  
Long Term Outcome

Background:Juvenile Idiopathic Arthritis (JIA) is a chronic pediatric inflammatory disease that shows many differences compared to adult-onset arthritis. The different clinical manifestations, the assessment and the management of JIA is the reason that the transition from childhood to adulthood is an important multidimensional process that emphasizes a lot of aspects.Objectives:To describe the long-term outcome of JIA.Methods:Five-hundred and twenty patients affected by JIA and referred to a transition care rheumatology tertiary centre were considered between 1999 and 2019. The outcome assessment included remission, disease duration, medications, number of prosthesis implantation, pregnancies, mortality and social integration (employment status and educational level).Results:A hundred and thirty-eight (26%) males and 382 (73%) females were included; 157 (30%) patients were lost to follow up. The mean age of the patients was 27 (18-57) years, with a mean age at onset of 8 years and an average disease duration of 19 years. Subtypes of JIA at disease onset included 252 (48%) oligoarthritis, 134 (26%) polyarthritis, 64 (12%) systemic arthritis, 22 (4%) psoriatic arthritis, 43 (8%) enthesitis related arthritis and 1 (0.1%) undifferentiated arthritis. Ninty-three (18%) patients suffered of uveitis. Ninty-five implant prosthesis and 16 arthrodesis were recorded. At follow up 198 (38%) patients were on remission of which 107 (20%) off medication. Among the 322 patients still on medication, 84 (16%) were under treatment with oral steroids, 226 (43%) with sDMARDs and 249 (40%) with bDMARDs. Five deaths (1%) occurred in this cohort. Two hundred and thirty-five subjects had a higher educational level, 327 had an employment. We have data of twenty-nine pregnancies. The transition age was considered after the age of 16 years old. The key word for the management of this cohort was the multidisciplinary approach towards each patient, with the collaboration of other specialists (ophthalmologist, orthopedic, dermatologist, gastroenterologist, obstetric and psychologist).Conclusion:In the era of biologic therapy the long-term outcome of JIA underwent an outstanding improvement regarding a lot of variables. Two hundred and thirty-two patients were still followed, not only because of the continuation of the biological therapy, but also for a multidisciplinary care even during remission. JIA often persists over the adulthood, therefore the long term follow-up and care of these patients needs to be conducted by a rheumatologist expertized in JIA in collaboration with other specialists.Disclosure of Interests:None declared

scholarly journals Predictors and long-term outcome in Greek adults with juvenile idiopathic arthritis: a 17-year continuous follow-up study

Rheumatology ◽  
2017 ◽  
Vol 56 (11) ◽  
pp. 1928-1938 ◽  
Author(s):  
Despoina Dimopoulou ◽  
Maria Trachana ◽  
Polyxeni Pratsidou-Gertsi ◽  
Prodromos Sidiropoulos ◽  
Florentia Kanakoudi-Tsakalidou ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Follow Up Study ◽  
Greek Adults

scholarly journals Anorexia nervosa: 30-year outcome

2019 ◽  
Vol 216 (2) ◽  
pp. 97-104 ◽  
Author(s):  
Sandra Rydberg Dobrescu ◽  
Lisa Dinkler ◽  
Carina Gillberg ◽  
Maria Råstam ◽  
Christopher Gillberg ◽  
...  
Keyword(s):  
Anorexia Nervosa ◽  
Eating Disorder ◽  
Psychiatric Treatment ◽  
Age At Onset ◽  
Favourable Outcome ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Symptom Recovery

BackgroundLittle is known about the long-term outcome of anorexia nervosa.AimsTo study the 30-year outcome of adolescent-onset anorexia nervosa.MethodAll 4291 individuals born in 1970 and attending eighth grade in 1985 in Gothenburg, Sweden were screened for anorexia nervosa. A total of 24 individuals (age cohort for anorexia nervosa) were pooled with 27 individuals with anorexia nervosa (identified through community screening) who were born in 1969 and 1971–1974. The 51 individuals with anorexia nervosa and 51 school- and gender-matched controls were followed prospectively and examined at mean ages of 16, 21, 24, 32 and 44. Psychiatric disorders, health-related quality of life and general outcome were assessed.ResultsAt the 30-year follow-up 96% of participants agreed to participate. There was no mortality. Of the participants, 19% had an eating disorder diagnosis (6% anorexia nervosa, 2% binge-eating disorder, 11% other specified feeding or eating disorder); 38% had other psychiatric diagnoses; and 64% had full eating disorder symptom recovery, i.e. free of all eating disorder criteria for 6 consecutive months. During the elapsed 30 years, participants had an eating disorder for 10 years, on average, and 23% did not receive psychiatric treatment. Good outcome was predicted by later age at onset among individuals with adolescent-onset anorexia nervosa and premorbid perfectionism.ConclusionsThis long-term follow-up study reflects the course of adolescent-onset anorexia nervosa and has shown a favourable outcome regarding mortality and full symptom recovery. However, one in five had a chronic eating disorder.

scholarly journals SAT0328 OUTCOME OF INTERSTITIAL LUNG DISEASE (ILD) IN ANTI-PM/SCL PATIENTS WITH SYSTEMIC SCLEROSIS: RESULTS FROM AN EUSTAR CASE-CONTROL STUDY.

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1109.2-1110
Author(s):  
M. G. Lazzaroni ◽  
C. Campochiaro ◽  
E. Marasco ◽  
J. De Vries-Bouwstra ◽  
F. Franceschini ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Disease Duration ◽  
Case Control Study ◽  
Age At Onset ◽  
Control Group ◽  
Research Support ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Control Study

Background:The main clinical associations of anti-PM/Scl in Systemic Sclerosis (SSc) so far reported include calcinosis, myositis and interstitial lung disease (ILD). Nevertheless, data regarding the long-term outcome of ILD in these patients are lacking. A single centre Spanish cohort reported a better functional outcome in 14 SSc-ILD patients anti-Pm/Scl+ as compared to 49 anti-Topo I after a mean follow-up of 7 years (1).Objectives:To analyze the long-term outcome of ILD in a large multicentre EUSTAR study dedicated to anti-Pm/Scl SSc patients.Methods:A case-control study within the EUSTAR cohort collected 165 anti-PM/Scl+ SSc cases and 257 anti-PM/Scl- SSc controls, matched for sex, cutaneous subset, disease duration, and age at onset. Data for ILD at HRCT were available for 162/165 cases and 249/257 controls. Data for pulmonary function tests (PFT) at the baseline (T0), 1 year after diagnosis (T1) and at the last visit (LV) were analyzed.Results:A significantly higher frequency of ILD was reported in anti-Pm/Scl+ cases vs anti-Pm/Scl- controls (62.3% vs 39.4%, p:<0.0001, OR 95%, CI 2.55, 1.70-3.83). Complete PFTs data were available for 81/101 ILD anti-Pm/Scl+ cases and 78/98 anti-Pm/Scl- ILD controls, with similar age at onset and female/male ratio and disease duration at LV (112±81 months vs. 115±64 months, p:0.77). Diffuse cutaneous involvement was less frequent in cases than in controls (27.2% vs. 44.9%, p:0.03).In ILD cases, %pFVC tended to improve from T0 (85.1±18.3) to T1 (89.5±16.5, p:0.045) and to LV (87.9±16.9, p:0.057), while in ILD controls remained stable from T0 (90.4±18.5) to T1 (91.1±16.5, p:0.38) and significantly declined to LV (85.0±18.0, p:0.0002). %pDLCO remained stable from T0 (60.5±16.8) to T1 (60.1±17.6, p:0.87) and to LV (60.4±16.9, p:0.77) in ILD cases, while significantly declined from T0 (67.0±18.9) to T1 (62.7±18.2, p:0.0016) and to LV (59.6±18.4, p<0.0001) in the control group. Mean %pFVC and %pDLCO at the 3 time points were not significantly different between the two groups.Delta %pFVC (LV-T0) was 2.85±11.3 for the anti-Pm/Scl+ group vs -5.42±13.4 in the control group (p:0.0004) with a significant smaller proportion of patients with FVC loss ≥10% from T0 to LV in the anti-PM/Scl group (12.3% vs. 39.7%, p:0.0001). Delta %pDLCO (LV-T0) was -0.13±10.8 for the anti-PM/Scl+ group vs -7.38±14.6 in the control group (p:0.0015), with a significant smaller proportion of patients with DLCO loss ≥10% from T0 to LV in the anti-PM/Scl+ group (13.6% vs. 42.3%, p<0.0001).Conclusion:In this multicenter real-life study, the long-term pulmonary functional outcome in SSc-ILD patients with anti-Pm/Scl positivity seems to be more favorable than in patients without anti-Pm/Scl antibodies.References:[1]Guillen-Del Castillo A, Semin Arthritis Rheum 2014, 44 (3), 331-7.Disclosure of Interests: :Maria Grazia Lazzaroni: None declared, Corrado Campochiaro Speakers bureau: Novartis, Pfizer, Roche, GSK, SOBI, Emiliano Marasco: None declared, Jeska de Vries-Bouwstra: None declared, Franco Franceschini: None declared, Francesco Del Galdo: None declared, Christopher Denton Grant/research support from: GlaxoSmithKline, CSL Behring, and Inventiva, Consultant of: Medscape, Roche-Genentech, Actelion, GlaxoSmithKline, Sanofi Aventis, Inventiva, CSL Behring, Boehringer Ingelheim, Corbus Pharmaceuticals, Acceleron, Curzion and Bayer, Lorenzo Cavagna: None declared, Oliver Distler Grant/research support from: Grants/Research support from Actelion, Bayer, Boehringer Ingelheim, Competitive Drug Development International Ltd. and Mitsubishi Tanabe; he also holds the issued Patent on mir-29 for the treatment of systemic sclerosis (US8247389, EP2331143)., Consultant of: Consultancy fees from Actelion, Acceleron Pharma, AnaMar, Bayer, Baecon Discovery, Blade Therapeutics, Boehringer, CSL Behring, Catenion, ChemomAb, Curzion Pharmaceuticals, Ergonex, Galapagos NV, GSK, Glenmark Pharmaceuticals, Inventiva, Italfarmaco, iQvia, medac, Medscape, Mitsubishi Tanabe Pharma, MSD, Roche, Sanofi and UCB, Speakers bureau: Speaker fees from Actelion, Bayer, Boehringer Ingelheim, Medscape, Pfizer and Roche, Yannick Allanore Grant/research support from: BMS, Inventiva, Roche, Sanofi, Consultant of: Actelion, Bayer AG, BMS, BI, Paolo Airò: None declared

Focal Dystonia in Woodwind Instrumentalists: Long-term Outcome

2003 ◽  
Vol 18 (1) ◽  
pp. 15-20
Author(s):  
Stephan Schuele ◽  
Richard J Lederman
Keyword(s):  
Clinical Characteristics ◽  
Involuntary Movement ◽  
Age At Onset ◽  
Focal Dystonia ◽  
Professional Musicians ◽  
Term Outcome ◽  
Duration Of Symptoms ◽  
Long Term Outcome

This study was conducted to describe the clinical characteristics and long-term outcome in woodwind instrumentalists with focal dystonia. Occupational cramp in musicians has been recognized for 150 years, but only in the past two decades has there been a resurgence of interest in this problem. Despite its overall rarity, the diagnosis of focal dystonia is made in a substantial number of instrumental musicians seeking care for playing-related problems, ranging from 5% to 14% in three larger series. The authors present the clinical characteristics and the results of a follow-up survey of 24 woodwind instrumentalists with focal dystonia seen at their institution between 1987 and 2001. Of the 24 musicians, 15 were male, 9 female. Mean age at onset was 34 years (range 18 to 56 years). Duration of symptoms on presentation averaged 3.5 years. Of the 24, 20 were professional musicians, three music students, and one amateur. Fifteen musicians (63%) responded to the written questionnaire, another five were assessed on subsequent visits, and four were lost to follow-up. The questionnaire was administered on average 7.1 years after initial presentation. Long-term information was available on average 8.5 years after the initial onset of symptoms. The main complaint was “impaired control” of movements, in 18 (75%) affecting the limb and in six (25%) the muscles of embouchure. Four patients (22%) with limb and two (33%) with embouchure dystonia had spreading of the dystonia to other activities. In 77% of the patients abnormal involuntary movement and posturing were noted during playing the instrument. Three patients with limb dystonia experienced moderate benefit from anticholinergic treatment, in two combined with botulinum toxin injections. Another four patients indicated benefit from splinting or incidental casting of their limb. Two patients with embouchure dystonia benefited from rebuilding their embouchure. Overall, half of the patients were unable to pursue their careers as professional musicians, in equal proportions in the two groups. Focal dystonia may affect the limb or muscles of embouchure in woodwind instrumentalists. Available treatment is often of little value, and in half of the patients the dystonia leads to the end of the musical career. More effective approaches are badly needed.

Abstract 13189: Clinical Presentation, Long-Term Follow-Up, and Disease Penetrance of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in 1001 Patients and Family Members

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Judith A Groeneweg ◽  
Aditya Bhonsale ◽  
Cynthia A James ◽  
Anneline S te Riele ◽  
Jeroen F van der Heijden ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Disease Onset ◽  
Family Members ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Term Outcome ◽  
Genetic Characteristics ◽  
Long Term Outcome ◽  
Right Ventricular Dysplasia

Introduction: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is a hereditary progressive cardiomyopathy. We aimed to define long-term outcome in a transatlantic ARVD/C cohort of 1001 individuals. Methods: Clinical/genetic characteristics and follow-up data of ARVD/C index patients (n=439, fulfillment of 2010 criteria in all) and family members (n=562) were assessed. Genetic screening of desmosomal and TMEM43 and PLN genes was performed in index patients. Results: Mutations, predominantly in PKP2, were identified in 276/439 (63%). Index patients presented mostly with sustained ventricular arrhythmias (VA) (268/439, 61%). Recurrent sustained VA (in 301/416 (72%) patients presenting alive) characterized follow-up (median 7 years) with 10/63 (16%) sudden cardiac deaths (SCD) in patients without implantable cardioverter-defibrillators (ICDs) versus 2/335 (0.6%) in those with ICDs. Overall, cardiac mortality during follow-up (6%) and cardiac transplantation rate (4%) were low. Although disease onset was significantly earlier in index patients with mutations (first presentation 34 vs.38 years old, p<0.001), disease burden was similar in index patients with and without identified mutations. No phenotypic differences were found between index patients with familial and isolated ARVD/C. Of family members, 37% (207/562) had ARVD/C. Symptoms at presentation correlated with disease expression. Nonetheless, even 103/324 (32%) initially asymptomatic mutation-carrying family members, developed ARVD/C. Family members with mutations more often had ARVD/C (40 vs. 18%, p<0.001), sustained VA (11 vs. 1.3%, p<0.001), and cardiac death (2 vs. 0%) than those without. Conclusions: Long-term outcome in ARVD/C index patients was favorable when diagnosed and treated. Prognosis in family members was determined by symptoms and mutation status. One in three family members, including asymptomatic mutation carriers, developed ARVD/C.

scholarly journals Early relapse rate determines further relapse risk: results of a 5-year follow-up study on pediatric CFH-Ab HUS

2020 ◽  
Author(s):  
Johannes Hofer ◽  
Magdalena Riedl Khursigara ◽  
Markus Perl ◽  
Thomas Giner ◽  
Alejandra Rosales ◽  
...  
Keyword(s):  
Kidney Function ◽  
Disease Onset ◽  
Factor H ◽  
Complement Factor ◽  
Normal Kidney ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Normal Kidney Function

Abstract Background The complement factor H antibody (CFH-Ab)–associated hemolytic uremic syndrome (HUS) forms a distinct subgroup within the complement-mediated HUS disease spectrum. The autoimmune nature of this HUS subgroup implies the potential benefit of a targeted immunosuppressive therapy. Data on long-term outcome are scarce. Methods This observational study evaluates the clinical outcome of 19 pediatric CFH-Ab HUS patients from disease onset until their 5-year follow-up. Results All but one relapse occurred during the first 2 years, and patients who had no relapse within the first 6 months were relapse-free until the end of the observation period. Kidney function at disease onset determines long-term kidney function: all individuals with normal kidney function at disease onset had normal kidney function after 5 years, and all patients with reduced kidney function at onset had impaired kidney function at the last follow-up. Level of CFH-Ab titer at disease onset was not correlated with a higher risk of recurrences or worse long-term outcome after 5 years. Resolution of CFH-Ab titers after 5 years was common. Conclusions CFH-Ab HUS patients have a varied overall long-term course. Early relapses are common, making close surveillance during the first years essential, regardless of the initial CFH-Ab titer.

Long-term follow-up of meningiomas of the cavernous sinus after surgical treatment alone

2007 ◽  
Vol 107 (5) ◽  
pp. 937-944 ◽  
Author(s):  
Marc Sindou ◽  
Ernesto Wydh ◽  
Emmanuel Jouanneau ◽  
Mustapha Nebbal ◽  
Thomas Lieutaud
Keyword(s):  
Cavernous Sinus ◽  
Secondary Growth ◽  
Clinical Manifestations ◽  
Tumor Control ◽  
Ocular Motility ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Group 1

Object The authors report on the long-term outcome in 100 consecutive patients with meningiomas arising from the cavernous sinus (CS) with compressive extension outside the CS. The treatment in all cases was surgery alone without adjuvant radiosurgery or radiotherapy. The aim of this study was to evaluate the percentage of patients in whom surgery alone was able to produce long-term tumor control. Methods All 100 patients harbored meningiomas with supra- and/or laterocavernous extension, and 27 had petro-clival extension. Surgery was performed via frontopterionotemporal craniotomy associated with orbital and/or zygomatic osteotomy in 97 patients. Proximal control of the internal carotid artery at the foramen lacerum was undertaken in 65 patients; the paraclinoid carotid segment was exposed extradurally at the space made by the anterior clinoidectomy in 81 patients. For the petroclival tumor extension, a second-stage surgery was performed via a presigmoid–retro-labyrinthine or retrosigmoid approach in 13 and 14 patients, respectively. Results The mortality rate was 5% and two patients had severe hemiplegic or aphasic sequelae. The creation or aggravation of disorders in vision, ocular motility, or trigeminal function occurred in 19, 29, and 24% of patients respectively, with a significantly higher rate of complications when resection was performed inside the CS (p < 0.05). Gross-total removal of both the extra- and intracavernous portions was achieved in 12 patients (Group 1), removal of the extracavernous portions with only a partial resection of the intracavernous portion in 28 patients (Group 2), and removal only of the extracavernous portions was performed in 60 patients (Group 3). The follow-up period ranged from 3 to 20 years (mean 8.3 years). There was no tumor recurrence in Group 1. In the 83 surviving patients in Groups 2 and 3 combined, the tumor remnant did not regrow in 72 patients (86.7%); regrowth was noted in 11 (13.3%). Conclusions The results suggest that there is no significant oncological benefit in performing surgery within the CS. Because entering the CS entails a significantly higher risk of complications, radiosurgical treatment should be reserved for remnants with secondary growth and clinical manifestations.

Klinische Langzeitergebnisse der perkutanen transluminalen Angioplastie bei Patienten mit peripherer arterieller Verschlusskrankheit

VASA ◽  
2002 ◽  
Vol 31 (1) ◽  
pp. 36-42 ◽  
Author(s):  
. Bucek ◽  
Hudak ◽  
Schnürer ◽  
Ahmadi ◽  
Wolfram ◽  
...  
Keyword(s):  
Success Rate ◽  
Clinical Stage ◽  
Ankle Brachial Index ◽  
Clinical Situation ◽  
Clinical Results ◽  
Transluminal Angioplasty ◽  
Term Outcome ◽  
Long Term Outcome

Background: We investigated the long-term clinical results of percutaneous transluminal angioplasty (PTA) in patients with peripheral arterial occlusive disease (PAOD) and the influence of different parameters on the primary success rate, the rate of complications and the long-term outcome. Patients and methods: We reviewed clinical and hemodynamic follow-up data of 166 consecutive patients treated with PTA in 1987 in our department. Results: PTA improved the clinical situation in 79.4% of patients with iliac lesions and in 88.3% of patients with femoro-popliteal lesions. The clinical stage and ankle brachial index (ABI) post-interventional could be improved significantly (each P < 0,001), the same results were observed at the end of follow-up (each P < 0,001). Major complications occurred in 11 patients (6.6%). The rate of primary clinical long-term success for suprainguinal lesions was 55% and 38% after 5 and 10 years (femoro-popliteal 44% and 33%), respectively, the corresponding data for secondary clinical long-term success were 63% and 56% (60% and 55%). Older age (P = 0,017) and lower ABI pre-interventional (P = 0,019) significantly deteriorated primary clinical long-term success for suprainguinal lesions, while no factor could be identified influencing the outcome of femoro-popliteal lesions significantly. Conclusion: Besides an acceptable success rate with a low rate of severe complications, our results demonstrate favourable long-term clinical results of PTA in patients with PAOD.

Psychopathology 8½ Years Post Parasuicide

Crisis ◽  
1999 ◽  
Vol 20 (3) ◽  
pp. 115-120 ◽  
Author(s):  
Stephen Curran ◽  
Michael Fitzgerald ◽  
Vincent T Greene
Keyword(s):  
Rating Scales ◽  
Psychiatric Morbidity ◽  
Parental Bonding ◽  
Social Maladjustment ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Face To Face ◽  
Long Term Follow Up

There are few long-term follow-up studies of parasuicides incorporating face-to-face interviews. To date no study has evaluated the prevalence of psychiatric morbidity at long-term follow-up of parasuicides using diagnostic rating scales, nor has any study examined parental bonding issues in this population. We attempted a prospective follow-up of 85 parasuicide cases an average of 8½ years later. Psychiatric morbidity, social functioning, and recollections of the parenting style of their parents were assessed using the Clinical Interview Schedule, the Social Maladjustment Scale, and the Parental Bonding Instrument, respectively. Thirty-nine persons in total were interviewed, 19 of whom were well and 20 of whom had psychiatric morbidity. Five had died during the follow-up period, 3 by suicide. Migration, refusals, and untraceability were common. Parasuicide was associated with parental overprotection during childhood. Long-term outcome is poor, especially among those who engaged in repeated parasuicides.

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

2019 ◽  
Vol 24 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Bianca K. den Ottelander ◽  
Robbin de Goederen ◽  
Marie-Lise C. van Veelen ◽  
Stephanie D. C. van de Beeten ◽  
Maarten H. Lequin ◽  
...  
Keyword(s):  
Treatment Protocol ◽  
First Year ◽  
Ventricular Size ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Skull Growth ◽  
Muenke Syndrome ◽  
First Year Of Life

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

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