scholarly journals Intermittent exotropia course in frontonasal dysplasia and severe orbital hypertelorism: Case report

2016 ◽  
Vol 69 (9-10) ◽  
pp. 302-304
Author(s):  
Zorana Pavlovic ◽  
Branislav Stankovic
Keyword(s):  
Case Report ◽  
Small Angle ◽  
Rare Condition ◽  
Strabismus Surgery ◽  
Type I ◽  
Early Assessment ◽  
Intermittent Exotropia ◽  
Frontonasal Dysplasia ◽  
Orbital Rotation ◽  
Ophthalmologic Examination

Introduction. Frontonasal dysplasia is a rare condition of congenital structure malformations of the midface. Ophthalmologic abnormalities have been estimated to occur in 87% of cases of frontonasal dysplasia. Case Report. We report a case of type I frontonsal dysplasia in a 15-year old boy after the correction of severe hypertelorism, median nasal cleft with a broad nasal root and associated decompensated intermittent exotropia with overaction of the inferior oblique muscles and V pattern. He underwent bilateral lateral rectus recessions of 6.0 mm for intermittent exotropia when he was six years old. The correction of hypertelorism was performed with orbital rotation surgery when he was thirteen years old. For some time after strabismus surgery, the ocular alignment improved, but it deteriorated gradually. The ocular alignment improved after the hipertelorismus correction; however, intermittent exotropia deteriorated gradually again six to seven months later. On the last ophthalmologic examination, he had the ocular alignment on the level of small angle exotropia and associated hypertropia and occasionally even small angle esotropia at near. There was bilateral overelevation in adduction and V pattern, which remained unchanged after extensive facial bones surgical procedures. Conclusion. The high incidence of ocular abnormalities, particularly exodeviations, indicates that the early assessment by an ophthalmologist should be a part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems.

MARKED FIRST-DEGREE ATRIOVENTRICULAR BLOCK ASSOCIATED WITH PSEUDO-PACEMAKER SYNDROME: A CASE REPORT

2019 ◽  
pp. 199-206
Author(s):  
О. З. Скакун ◽  
С. В. Федоров ◽  
О. С. Вербовська ◽  
І. З. Твердохліб
Keyword(s):  
Case Report ◽  
Atrioventricular Block ◽  
Heart Block ◽  
Pacemaker Implantation ◽  
Rare Condition ◽  
Permanent Pacemaker ◽  
Type I ◽  
Atrial Contraction ◽  
General Weakness ◽  
Pacemaker Syndrome

Distinctive atrioventricular type I heart block is diagnosed when the PQ interval is 0.30 s. or more. Prolongation of the PQ interval more than 0.50 s. is a very rare condition. Usually it is associated with a pseudo-pacemaker syndrome. The last one manifests itself with dizziness, syncope, general weakness, shortness of breath upon physical exertion, cough, seizures, cold sweat, a feeling of pulsation in the head, neck and abdomen, a headache, paroxysmal nocturnal dyspnea, swelling of the lower extremities, tachypnea and jugular venous pulsation. The P wave appears immediately after the previous QRS complex. Atrial contraction occurs at the moment when the ventricles don’t relax after the previous contraction; due to the fact that pressure in the ventricles at this moment is higher than in the atria, the tricuspid and mitral valves remains closed. During the atrial contraction, most of the blood is ejected not into the ventricles, but backward into the pulmonary veins from the left atrium and into the venae cavae from the right atrium. Also, an atrial kick is absent which results in a less ventricular filling. There is increased pressure in the atria leading to their distension and excessive secretion of the atrial natriuretic peptide. A case report of the distinctive atrioventricular type I heart block associated with the pseudo-pacemaker syndrome is described. The patient suffered from a pre-syncope, short-term dizziness during the previous two days, tinnitus, general weakness, feeling of pulsation in the abdomen, neck, head, which interfered with his sleep. He developed these complaints after an infectious disease, which manifested as a runny nose and sore throat. In this patient, an extremely prolonged PQ interval up to 0.70 s. was observed. Also, episodes of Mobitz I and Mobitz type II atrioventricular block were detected. During the monitoring of patient state, the interval PQ was gradually shortening, and in 1 month it reached the normаl duration. It can be assumed that in the case of distinctive atrioventricular type I heart block, a significant prolongation of the refractory period in the rapid pathways of the AV-node plays a key role in the pathogenesis of this condition. According to the recommendations of the ACC/AHA (1998), for patients with distinctive atrioventricular type I heart block accompanied by the pseudo-pacemaker syndrome and documented alleviation of symptoms with temporary AV pacing, the pacemaker implantation should be considered (IIaB). The implantation of dual chamber pacemaker may reduce symptoms and lead to an improvement in the functional state of patients, in whom shortening of the interval between atrial and ventricular contractions improves hemodynamics. For asymptomatic patients with the PQ interval of ≥ 0.30 s, pacemaker is not recommended. The distinctive atrioventricular type I heart block in patients with pseudo-pacemaker syndrome is a rare condition and often remains undiagnosed. But it may have a benign course with a gradual normalization of the PQ interval. Indications for permanent pacemaker implantation should be reviewed as this block may be completely reversible. A permanent pacemaker may be used in the case of absence of positive dynamics in a shortening of the PQ interval.    

scholarly journals Neonate with congenital absence of the nose: case report

2021 ◽  
Vol 7 (8) ◽  
pp. 1384
Author(s):  
Adriana Nieto-Sanjuanero ◽  
Arturo García-Ramírez ◽  
María Martínez-Cobos ◽  
Edmundo García-Martínez ◽  
Manuel De la O-Cavazos ◽  
...  
Keyword(s):  
Case Report ◽  
Olfactory System ◽  
Rare Condition ◽  
Congenital Absence ◽  
Type I ◽  
Proper Management

<p class="abstract">The congenital absence of the nose is called arrhinia and according to the Losee et al classification, it is type I. Total arrhinia is considered if it is associated with the absence of the olfactory system (olfactory tracts and bulbs). In Mexico, there is only one reported case of arrhinia. In this case report, we presented a neonate with a congenital absence of the nose. The absence of olfactory tracts and bulbs was verified with imaging and pathological studies, classifying it as total congenital arrhinia. This case was the first of its type in our country. Since it was a rare condition, there was little bibliography on its management, therefore, coordination between the different specialties is important for proper management.</p>

Fournier's gangrene as Amyand's hernia complication

2019 ◽  
Vol 98 (7) ◽  
pp. 291-296
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Rare Condition ◽  
Sporadic Case ◽  
Fournier’S Gangrene ◽  
Amyand’S Hernia ◽  
Fournier's Gangrene ◽  
Randomized Controlled Studies ◽  
Based Medicine ◽  
Hernia Complication

Introduction: Fournier’s gangrene is a rare but fast deteriorating and serious condition with high mortality. In most cases, it is characterized as necrotizing fasciitis of the perineum and external genitals. Amyand’s hernia is a rare condition where the appendix is contained in the sac of an inguinal hernia. Inflammatory alterations in the appendix account only for 0.1 % of the cases when Amyand’s hernia is verified. Fournier’s gangrene as a complication of a late diagnosis of appendicitis located in the inguinal canal is described in the literature as rare case reports. Case report: The case report of a 70-year-old patient with Fournier’s gangrene resulting from gangrenous appendicitis of Amyand’s hernia. Conclusion: Fournier’s gangrene as a complication of Amyand’s hernia is a rare condition. Only sporadic case reports thereof can be found in the literature. Because of the rarity of this pathology and the lack of randomized controlled studies, it is difficult to determine the optimal treatment according to the principles of evidence-based medicine. An appropriate approach for this condition appears to be the combination of guidelines developed in Amyand’s therapy according to Losanoff and Basson, along with the recommended “gold standard” therapy for Fournier’s gangrene. This means early and highly radical surgical debridement, adequate antibiotic therapy and intensive care.

Surgical Repair of Type I Truncus Arteriosus 7 Years After Pulmonary Artery Banding: A case Report.

1998 ◽  
Vol 48 (3) ◽  
pp. 215-218
Author(s):  
Masao Suzuki ◽  
Akio Ohtaki ◽  
Shigeru Ohki ◽  
Takashi Ibe ◽  
Jun Murakami ◽  
...  
Keyword(s):  
Case Report ◽  
Pulmonary Artery ◽  
Surgical Repair ◽  
Pulmonary Artery Banding ◽  
Truncus Arteriosus ◽  
Type I

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Linlin Huang ◽  
Ting Shi ◽  
Ying Li ◽  
Xiaozhong Li
Keyword(s):  
Acute Kidney Injury ◽  
Case Report ◽  
Frameshift Mutation ◽  
Novel Mutation ◽  
Kidney Injury ◽  
Febrile Illness ◽  
Type I ◽  
Continuous Venovenous Hemodiafiltration ◽  
Glutaric Acidemia Type I ◽  
Acute Decompensation

This is a case report of a girl with glutaric acidemia type I (GA-I) who experienced rhabdomyolysis and acute kidney injury (AKI). Her first acute metabolic crisis occurred at the age of 5 months, which mainly manifested as irritable crying, poor appetite, and hyperlactatemia. Mutation analysis showed 2 pathogenic mutations in the glutaryl-CoA dehydrogenase (GCDH) gene, which were c.383G&#x3e;A (p.R128Q) and c.873delC (p.N291Kfs*41), the latter of which is a novel frameshift mutation of GA-I. She had a febrile illness at the age of 12 months, followed by AKI and severe rhabdomyolysis. Four days of continuous venovenous hemodiafiltration (CVVHDF) helped to overcome this acute decompensation. This case report describes a novel mutation in the GCDH gene, that is, c.873delC (p.N291Kfs*41). Also, it highlights the fact that patients with GA-I have a high risk of rhabdomyolysis and AKI, which may be induced by febrile diseases and hyperosmotic dehydration; CVVHDF can help to overcome this acute decompensation.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

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