scholarly journals Atteintes Oculaires Au Cours Du Syndrome De Wolfram À Propos De Deux Cas Et Revue De La Littérature

2017 ◽  
Vol 13 (27) ◽  
pp. 269
Author(s):  
Abba Kaka H.Y ◽  
Guirou N. ◽  
Berete C.R. ◽  
Amza A. ◽  
Daou M.
Keyword(s):  
Visual Acuity ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Type I Diabetes ◽  
Hypogonadotropic Hypogonadism ◽  
Wolfram Syndrome ◽  
Type I ◽  
Diabetic Ketosis ◽  
The Right

Introduction: Wolfram syndrome is an autosomal recessive neurodegenerative disorder. Diabetes mellitus and juvenile bilateral optic atrophy are its major signs. It is recognized that this association, which started in childhood or during adolescence, is sufficient to diagnose Wolfram syndrome. Optic atrophy occurs in 98% to 100% of cases with an average age of onset of 11 years. We reported a study of two confirmed cases referred by the internal medicine department. Observations: Case 1: A 23- year-old woman, deaf and dumb by birth, went through a diabetic ketosis test. Ophthalmologic examination showed reduced visual acuity in the fingers at 5 meters P2 in both eyes. Also, the fundus of the eye showed bilateral atrophic papillary palpation with no signs of retinopathy. She had deafness of deep perception and hypogonadotropic hypogonadism. Deafness, diabetes, optic atrophy, and hypogonadism led to the diagnosis. Case 2: A 21-year-old man born from a first-degree consanguineous marriage serves as a supplement to the management of diabetes. The visual acuity was at counting fingers at 1m to the right eye and sees the hand move to 0.5 m to the left eye. On examination at the slit lamp, it had a bilateral dense cataract. After phacoexeresis, the base revealed bilateral optic atrophy. Ultrasound of the urinary tree showed hypotonia of the renal cavities and a neurogenic bladder. Also, audiometry showed mild sensory deafness. The diagnosis of Wolfram syndrome was made in front of the tetrad: diabetes, optic atrophy, deafness, and urinary signs. Discussion: Wolfram syndrome may be familial or sporadic. The gene however is located on the short arm of chromosome 4. Optic atrophy is secondary to the involvement of pre-genetic fibers, and it is characterized initially by temporal palpation of the papilla. The evolution towards diffuse whitish discoloration occurs in a few months or years with the gradual establishment of a blindness around the age of 17 to 30 years. Conclusion: Wolfram syndrome is a clinical entity characterized by clinical and genetic polymorphism. This diagnosis should be considered in the presence of any type I diabetes associated with optic atrophy in children

scholarly journals Melioidosis in a Patient with Type I Diabetes Mellitus - A Case Report

2018 ◽  
Vol 42 (1) ◽  
pp. 46-48
Author(s):  
Tasnima Ahmed ◽  
Md Abid Hossain Mollah ◽  
Fauzia Mohsin ◽  
Jebun Nahar ◽  
Abu Talha
Keyword(s):  
Diabetes Mellitus ◽  
Burkholderia Pseudomallei ◽  
Type I Diabetes ◽  
Correct Diagnosis ◽  
Abdominal Distension ◽  
Renal Diseases ◽  
Type I ◽  
Negative Bacterium ◽  
The Right ◽  
Underlying Diseases

Melioidosis is a relatively uncommon but fatal infectious disease caused by the gram negative bacterium, Burkholderia pseudomallei which is usually found in the wet soil, mud and pooled surface water in tropic and subtropics. Documented reports of melioidosis from Bangladesh have been few and sporadic. All of the reported cases in Bangladesh were on adult. Melioidosis is commonly associated with underlying diseases like diabetes mellitus, renal diseases and immunodeficiency disorders. Early and correct diagnosis is important, as mortality in untreated melioidosis is high. Our patient, an eleven years old boy, a known case of diabetes mellitus, presented with fever for one month associated with right sided neck swelling, abdominal distension & pain for 10 days. He had an abscess on the right side of the neck and hepatosplenomegaly. Ultrasonography of abdomen showed multiple abscesses in the liver and spleen. Culture of pus drained from the neck abscess revealed growth of Burkholderia pseudomallei. After getting parenteral antibiotics and insulin, his abscesses gradually resolved and cured completely.Bangladesh J Child Health 2018; VOL 42 (1) :46-48

Vitreoretinal Surgery in Diabetic Patients on Hemodialysis

1997 ◽  
Vol 7 (3) ◽  
pp. 283-287 ◽  
Author(s):  
J. Nawrocki ◽  
W. Chrzanowski ◽  
D. Koch ◽  
K. Dziegielewski
Keyword(s):  
Visual Acuity ◽  
Pars Plana Vitrectomy ◽  
Silicone Oil ◽  
Type I Diabetes ◽  
Vitreoretinal Surgery ◽  
Final Visual Acuity ◽  
Diabetic Patients ◽  
Type I ◽  
First Results ◽  
Pars Plana

The present paper reports our first results after pars plana vitrectomy in patients with diabetic retinopathy and hemodialysis with a follow-up of 6 to 24 months. Between January 1992 and October 1994 we performed vitreoretinal surgery with silicone oil tamponade in nine eyes of seven patients with diabetic nephropathy on hemodialysis. All patients had had type I diabetes for 19–32 years. Over the observation period the retina was completely attached in eight eyes. Final visual acuity of 0.1 - 0.7 was attained in four eyes, 0.06 two, hand movements in one eye. Two eyes had no useful final visual acuity because of redetachment of the retina or secondary glaucoma with rubeosis iridis. The small number of complications shows that pars plana vitrectomy can be done in diabetic patients with nephropathy on hemodialysis. This significantly improves their quality of life

scholarly journals Bilateral internuclear ophthalmoplegia in multiple sclerosis of very late onset

2021 ◽  
Author(s):  
Guilherme Drumond Jardini Anastacio ◽  
Stella de Angelis Trivellato ◽  
Hendrick Henrique Fernandes Gramasco ◽  
Ana Claudia Pires Carvalho ◽  
Omar Gurrola Arambula ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Visual Acuity ◽  
Demyelinating Disease ◽  
Hip Prosthesis ◽  
Age Of Onset ◽  
Late Onset ◽  
Oligoclonal Bands ◽  
Internuclear Ophthalmoplegia ◽  
Lower Limb Pain ◽  
The Right

Context: Multiple sclerosis (MS) is the most common demyelinating disease of the central nervous system. The average age of onset is in the range of 28 to 31 years, but it can occur from the first year of life or after the seventh decade. If diagnosed over 60 years of age, it is called very late onset, with low prevalence. Bilateral internuclear ophthalmoplegia is a rare syndrome characterized by bilateral restriction of the adduction of the eyes in the conjugated horizontal gaze, which is generally secondary to demyelinating and vascular diseases. Case report: A 64-year-old man, brown, with a history of alcoholism, gout, hypothyroidism, arterial hypertension and generalized osteoarthritis with a right hip prosthesis with difficulty walking, presented a five-day subacute bilateral visual turbidity and binocular horizontal diplopia. On physical examination, he presented bilateral internuclear ophthalmoplegia, with a reduction in bilateral visual acuity worse on the right, in addition to lower limb pain pseudoparesis, with bilateral Babinski sign. Investigation with visual evoked potential demonstrated bilateral demyelinating optic neuropathy on the right, cerebrospinal fluid with more than two oligoclonal bands present, neuroaxis magnetic resonance imaging showing a change in the signal of the right optic nerve and multiple demyelinating lesions, fulfilling the criteria for dissemination in space and time. Therapy with Methylprednisolone 1g / day for 5 days was performed, with improvement of the condition, maintaining only visual sequelae with decreased visual acuity, and disease-modifying therapy was also started with stabilization of the condition. Conclusions: Despite being more rare, very late-onset MS should be considered as a diagnosis, even with singular presentations as in the case reported.

scholarly journals Characterization of SSBP1-related optic atrophy and foveopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Isabelle Meunier ◽  
Béatrice Bocquet ◽  
Sabine Defoort-Dhellemmes ◽  
Vasily Smirnov ◽  
Carl Arndt ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Impairment ◽  
Optic Atrophy ◽  
Age Of Onset ◽  
Fundus Autofluorescence ◽  
Cone Dystrophy ◽  
Incomplete Penetrance ◽  
Fiber Layer ◽  
Major Criterion

AbstractDominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutinized using 20° × 20° macular cube and 30° and 55° field fundus autofluorescence photographs. Age of onset, visual acuity, retinal nerve fiber layer and macular thicknesses were recorded. Three SSBP1-patients were asymptomatic, 10 had isolated DOA, and 12 had a combined DOA plus foveopathy. The foveopathy, with a tiny defect of the ellipsoid and interdigitation lines, was similar in all patients, independent of age. There were no significant statistical differences in terms of visual acuity and SD-OCT measurements between patients with isolated DOA (mean visual acuity in decimals: 0.54 ± 0.41) and those with combined foveopathy (0.50 ± 0.23). Two patients over 50 years of age developed a progressive rod-cone dystrophy, leading to severe visual impairment. SSBP1-related DOA shares similarities with OPA1-related DOA with an incomplete penetrance and an early childhood visual impairment. Nevertheless, the presence of a congenital foveopathy with no impact on visual acuity is a major criterion to distinguish SSBP1 cases and orient the appropriate genetic analysis.

Autonomy, the Right Not to Know, and the Right to Know Personal Research Results: What Rights are There, and Who Should Decide about Exceptions?

2014 ◽  
Vol 42 (1) ◽  
pp. 28-37 ◽  
Author(s):  
Gert Helgesson
Keyword(s):  
Type I Diabetes ◽  
Personal Data ◽  
Personal Health Information ◽  
Type I ◽  
Right To Know ◽  
Ethical Guidelines ◽  
The Right To Know ◽  
Screening Study ◽  
Right Not To Know ◽  
The Right

Bioethicists have for quite some time discussed the right to know and the right not to know personal health information, such as genetic information acquired in health care and incidental health-related findings in research. Several international ethical guidelines explicitly defend these rights.My own interest in these matters stems from my participation in ethics-related research tied to a longitudinal screening study on Type I diabetes involving young children. A few of the participating parents (about 2 percent) did not want to be informed if the study revealed their child had a high risk of developing diabetes. This response was troublesome, not least since the information would concern the child's and not the parents’ health. Our inclination was that there cannot be a right not to know that should be granted without qualifications. Furthermore, other contextual factors, e.g., that parents experienced pressure to participate and felt concern about some of the personal data handled in the study, gave reason to question whether autonomous decisions were made regarding participation. The autonomy of their expressed desire not to know was therefore questionable.

scholarly journals A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

2020 ◽  
pp. bjophthalmol-2020-316826
Author(s):  
Malena Daich Varela ◽  
Wadih M Zein ◽  
Camilo Toro ◽  
Catherine Groden ◽  
Jean Johnston ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Image Analysis ◽  
Optic Atrophy ◽  
Visual Function ◽  
Type I ◽  
Ophthalmic Imaging ◽  
Registration Number ◽  
Cherry Red Spot ◽  
The Mean

AimTo describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated ‘macular cherry-red spot’.MethodsSeven patients with sialidosis type I (mutations in NEU1) and one with galactosialidosis (mutations in CTSA) were included. All patients underwent detailed ophthalmological examinations. The reflectivity of macular optical coherence tomography (OCT) was measured using greyscale analysis (Fiji) and compared with age-matched healthy volunteers. Four patients were evaluated over a time of 1.5+0.5 years.ResultsThe mean age of the patients at their first visit was 27.5+9.8 years. All patients had a macular cherry-red spot, clear corneas and visually non-significant lenticular opacities. The mean visual acuity was LogMar 0.4 (20/50)+0.4 (20/20 to 20/125). Six patients had good visual function. Optic atrophy was present in two individuals with reduced acuity. A significant increase in macular reflectivity was present in all patients compared to age-matched controls (p<0.0001).ConclusionMost of our patients (75%) have preserved visual acuity, even in adulthood. The presence of optic atrophy is associated with poor visual acuity. Increased macular reflectivity by OCT greyscale measurements is noted in all patients, although the underlying biological basis is unknown. These findings complement the current methods for examining and monitoring disease progression, especially in patients for whom visualisation of the cherry-red spot is not entirely clear.Trial registration numberNCT00029965.

scholarly journals Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

2004 ◽  
Vol 89 (4) ◽  
pp. 1656-1661 ◽  
Author(s):  
R. Medlej ◽  
J. Wasson ◽  
P. Baz ◽  
S. Azar ◽  
I. Salti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Sensorineural Deafness ◽  
Microvascular Disease ◽  
Insulin Dependent Diabetes Mellitus ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus ◽  
Number Of Patients

Abstract Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87% of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5%. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5%), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.

scholarly journals Lymphocytic Adrenal Medullitis: Case Report of A Patient with Pheochromocytoma-Like Hypertensive Paroxysms

2018 ◽  
Vol 05 (01) ◽  
pp. e1-e5
Author(s):  
Jan Calissendorff ◽  
Carl Christofer Juhlin
Keyword(s):  
Blood Pressure ◽  
Adrenal Gland ◽  
Type I Diabetes ◽  
Histological Finding ◽  
Secondary Hypertension ◽  
Type I ◽  
Adrenocortical Adenoma ◽  
Unilateral Adrenalectomy ◽  
Lymphocytic Infiltrates ◽  
The Right

AbstractLymphocytic adrenal medullitis (LAM) denote the histological finding of lymphocytic infiltrates in the adrenal medulla, a rare phenomenon that previously has been deemed asymptomatic and linked to autopsy findings in patients with type I diabetes. We describe the finding of LAM in a 66-year old female presenting with hyperaldosteronism and a 17 mm lesion in the right adrenal gland. The patient displayed secondary hypertension as well as intermittently occurring exaggerated hypertensive episodes with systolic peaks above 220 mm Hg. Preoperative catecholamine screening was negative, diminishing the possibility of a pheochromocytoma. Unilateral adrenalectomy was performed, and histology revealed an aldosterone producing adrenocortical adenoma. No signs of adrenomedullary hyperplasia or pheochromocytoma were found; however, prominent B- and T-lymphocytic infiltrates were observed across the medulla. The inflammation was almost absent in the surrounding adrenocortical tissue. Postoperatively, the patient remained hypertensive, but without paroxysmal excessive blood pressure elevations. A review of our pathology records between the years 2000 to present time as well as focused histopathological re-examination of 40 cases revealed no signs of LAM in any adrenal gland investigated, confirming the occurrence in living patients as exceedingly rare. This is the first report of LAM in a living patient, with a possible clinical association to intermittent episodes of markedly increased blood pressure not commonly seen in patients with hyperaldosteronism. A coupling between LAM and exaggerated hypertensive episodes cannot be ruled out.

scholarly journals ON THE HEALTH OF PRESCHOOL CHILDREN OF KRASNODAR REGION RURAL LOCALITY

2018 ◽  
Vol 25 (4) ◽  
pp. 13-21
Author(s):  
L. V. BATRAKOVA ◽  
P. V. NEFEDOV ◽  
I. S. ZACHARCHENKO
Keyword(s):  
Visual Acuity ◽  
Preschool Children ◽  
Type I Diabetes ◽  
Health Indicators ◽  
Type I ◽  
State Of Health ◽  
Tunnel Vision ◽  
Health Group ◽  
Krasnodar Region ◽  
Rural Locality

Aim. This study was performed to assess the state of health of preschool children from Krasnodar Region rural locality according to the incidence rate.Materials and methods. The study was conducted on the basis of six municipal preschool institutions in Krasnodar Region rural locality with the coverage of 855 preschool children aged 3 to 7 years.Results. When dividing children into health groups, it was evident that most of them belonged to I health group. Among children with various health abnormalities categorized as II, III, IV and V  health groups, chronic tonsillitis, reduced visual acuity, and anemia  were more common. Girls more often than boys had chronic  pyelonephritis, bronchial asthma, Type I diabetes mellitus, anemia,  chronic pancreatitis, chronic bronchitis, and cystitis. The boys were more likely to experience reduced visual acuity and tunnel vision.Conclusion. As a result of the conducted research, it was determined that the majority of children attending preschool institutions in Krasnodar Region rural localities were  almost healthy. In comparison with other regions (according to the  literature), the health indicators of rural preschool children in  Krasnodar Region are somewhat better. The results of the study also  showed gender differences in the morbidity patterns of preschool  children, indicating that girls are at risk.

scholarly journals Streptococcus dysgalactiae endocarditis presenting as acute endophthalmitis

2012 ◽  
Vol 4 (1) ◽  
pp. 16 ◽  
Author(s):  
Angelina Su-Min Yong ◽  
Su Yin Lau ◽  
Tsung Han Woo ◽  
Jordan Yuanzhi Li ◽  
Tuck Yean Yong
Keyword(s):  
Visual Acuity ◽  
Infective Endocarditis ◽  
Mitral Valve ◽  
Type I Diabetes ◽  
Case Reports ◽  
Endogenous Endophthalmitis ◽  
Ocular Infection ◽  
Type I ◽  
Streptococcus Dysgalactiae ◽  
Group A

Endogenous endophthalmitis is a rare ocular infection affecting the vitreous and/or aqueous humours. It is associated with poor visual prognosis and its commonest endogenous aetiology is infective endocarditis. The causative organisms of endogenous endophthalmitis complicating endocarditis are mainly Group A or B streptococci. The identification of Group C and G streptococci such as <em>Streptococcus dysgalactiae </em>is comparatively uncommon and has only been reported in a few case reports or series. We therefore report a case of infective endocarditis caused by <em>Streptococcus dysgalactiae </em>first presenting with endogenous endophthalmitis, the most likely source being bilateral feet osteomyelitis in a patient with type I diabetes. The patient was treated with a course of intravenous benzylpenicillin, intravitreal antibiotics, bilateral below knee amputations and mitral valve replacement. She survived all surgical procedures and regained partial visual acuity in the affected eye.

Sign in / Sign up

Export Citation Format

Share Document