Atypical presentations of non-familial anterior megalophthalmos: a rare disease

2021 ◽  
Vol 14 (10) ◽  
pp. e244350
Author(s):  
Aparna Rao ◽  
Rakhi P Dcruz
Keyword(s):  
Family History ◽  
Late Onset ◽  
Positive Family History ◽  
Late Presentation ◽  
Optic Nerve Damage ◽  
Atypical Features ◽  
The Family ◽  
Anterior Megalophthalmos ◽  
Advanced Glaucoma ◽  
Atypical Presentations

Anterior megalophthalmos usually presents early in life with megalocornea, deep anterior chamber, raised intraocular pressure, glaucomatous optic nerve damage and iridodonesis/stromal thinning with positive family history. We report atypical features and presentations in two patients (four eyes) with non-familial megalophthalmos. While the first patient, a male, presented at 51 years of age with megalocornea, cataract, phacodonesis, normal pupillary dilatation/normal iris and advanced glaucoma, the second patient presented with iridodonesis with stromal thinning, aphakia and advanced glaucoma. The family history was negative in both patients. The vitreous index was unusually high, >70% in all four eyes, owing to aphakia in the second patient and possible late presentation/variant phenotype in the first patient. Thus, atypical features such as greater vitreous length, absent iris involvement and late-onset adult presentation are common in non-familial anterior megalophthalmos. Clinical surprises due to varied phenotypes should be kept in mind in such cases.

scholarly journals Analysis of Factors Causing Appearance of Food Hypersensitivity in Toddlers

2021 ◽  
Vol 6 (2) ◽  
pp. 101-107
Author(s):  
O. I. Matsyura ◽  
◽  
Keyword(s):  
Family History ◽  
Young Children ◽  
Bronchial Asthma ◽  
Skin Diseases ◽  
Positive Family History ◽  
Correlation Coefficients ◽  
Food Hypersensitivity ◽  
Pathogenetic Mechanisms ◽  
The Family ◽  
The City

Food hypersensitivity is a reaction to the food consumed, regardless of the pathogenetic mechanisms that cause the symptoms. It is an actual and controversial problem in pediatric practice. Nowadays there is an active search for the causes of disease progression, a large role is given to the study of genetic and external factors (food, environmental, social). This disease arises many questions due to the similarity of the clinical representation in different kinds of food hypersensitivity and in different pathogenetic mechanisms, which are involved. The purpose of the study is to perform the analysis of factors, which cause appearance of food hypersensitivity in toddlers. Materials and methods. A study of the number of children with food intolerance was conducted using a specially compiled questionnaire. Thus, 4,500 questionnaires were distributed in pre-school and medical establishments to question parents. Results and discussion. Analysis of 3,214 questionnaires was conducted, which enabled to obtain information from parents on anamnesis and living conditions of toddlers. Values of 56 factors were analyzed, calculating correlation coefficients with a formation of food hypersensitivity for each of them. Statistical analysis allowed distinguishing 15 signs among these factors, which significantly correlated with the formation of food hypersensitivity in young children. The investigation enabled not only to detect factors that affect formation of food hypersensitivity in young children, but also to suggest a mathematical model of individual calculation of risk factors for this pathology. Data of conducted mathematical analysis can be used for elaboration of a complex of prophylaxis measures on development of food hypersensitivity in toddlers. Conclusion. The formation of hypersensitivity to cow's milk in children is provoked by the presence of contact reactions in the child, adverse reactions after medication, positive family history (bronchial asthma in relatives, skin diseases in parents (father and / or mother)), smoking in the family, living in the city; at the same time, preventive factors are living in an apartment, in a new building, in a dry apartment. The formation of food hypersensitivity in young children is generally provoked by a positive family history (bronchial asthma, hay fever, urticaria, diseases of the stomach and duodenum in relatives, skin diseases in parents), smoking in the family; frequent consumption of food in a mass catering points; living in the city plays a preventive role

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

Genetic Insights into Early-onset Parkinson’s Disease

US Neurology ◽  
2010 ◽  
Vol 06 (01) ◽  
pp. 41
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Leucine Rich Repeat ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson’s disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare, and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1, PTEN-induced kinase-1 (PINK-1), andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

scholarly journals Gilles de la Tourette Syndrome—A Case Report from Guyana in South America

1992 ◽  
Vol 5 (1) ◽  
pp. 39-41 ◽  
Author(s):  
V. Eapen ◽  
M. M. Robertson
Keyword(s):  
Case Report ◽  
Family History ◽  
South America ◽  
Tourette Syndrome ◽  
Attention Deficit Disorder ◽  
Positive Family History ◽  
Cross Cultural ◽  
Biological Factors ◽  
The Family ◽  
Cultural Similarity

A case of the Gilles de la Tourette syndrome from Guyana in South America is presented. The patient had a positive family history as well as coprolalia, echolalia, and attention deficit disorder with hyperactivity. The family history and cross-cultural similarity emphasise the biological factors in the aetiology of the syndrome.

Genetic Prophecy: Promises and Perils for Late-Onset Diseases

1992 ◽  
Vol 14 (1) ◽  
pp. 6-9 ◽  
Author(s):  
Marie Boutté
Keyword(s):  
At Risk ◽  
Family History ◽  
Late Onset ◽  
Risk Status ◽  
Family Reunion ◽  
Genealogical Analysis ◽  
The Family ◽  
Family Secret ◽  
Screening Clinic ◽  
First Time

In 1975 an unusual family reunion was held at Children's Hospital in Oakland, California. The large Joseph family had gathered for the first time. One of their members had finally taken the family secret to the National Genetics Foundation and asked for help with the unique disease that for many years had been passed in their family from one generation to the next. The National Genetics Foundation sent a team of neurologists and geneticists to the reunion and held the first screening clinic for what became known as Joseph's Disease, and later as Machado-Joseph disease (MJD). Diagnosis of those afflicted with the disease was made from neurological examinations, and at-risk status was determined from family history and genealogical analysis.

scholarly journals Surveillance survey of family history in children with neural tube defects

2017 ◽  
Vol 19 (6) ◽  
pp. 690-695 ◽  
Author(s):  
Esther B. Dupépé ◽  
Daxa M. Patel ◽  
Brandon G. Rocque ◽  
Betsy Hopson ◽  
Anastasia A. Arynchyna ◽  
...  
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Positive Family History ◽  
Cns Disorders ◽  
Paternal Lineage ◽  
First Degree Relatives ◽  
The Family ◽  
History Of

OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.

scholarly journals Outcomes of Kawasaki Disease in Families

2020 ◽  
Vol 2 (5) ◽  
Author(s):  
Toshimasa Nakada
Keyword(s):  
Family History ◽  
Kawasaki Disease ◽  
Rescue Therapy ◽  
Positive Family History ◽  
Ivig Therapy ◽  
Therapy Resistance ◽  
Ivig Resistance ◽  
The Family ◽  
History Of ◽  
Acute Phase Treatment

An epidemiological study showed that a positive family history of Kawasaki disease (KD) was a risk factor for intravenous immunoglobulin (IVIG) therapy resistance, coronary artery lesions (CALs), and KD recurrence. However, real-world outcomes of KD patients with a family history remain unclear. The objective of this study was to elucidate the outcomes of KD patients with a family history in the era of 2 g/kg IVIG therapy. This retrospective study included data from 201 KD patients who underwent acute-phase treatment from January 2009 to June 2020, with 184 (91.5%) receiving 2 g/kg IVIG therapy. The patients were divided into 13 (family group) with and 188 (nonfamily group) without a family history of KD. The rates of IVIG resistance (8.3% vs. 22.1%, P = 0.315), rescue therapy (8.3% vs. 12.8%, P = 1.000), CALs (0.0% vs. 2.7%, P = 1.000), and KD recurrence (0.0% vs. 3.2%, P = 1.000) were similar between the family and nonfamily groups.

scholarly journals 116 An Assessment of Current Practice for Suspected Paediatric Testicular Torsion

2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
J Gibb ◽  
O Babawale ◽  
D Hodgson ◽  
R Harrison
Keyword(s):  
Testicular Torsion ◽  
Current Practice ◽  
Late Presentation ◽  
Paediatric Surgery ◽  
Late Presenters ◽  
Number Of Children ◽  
Atypical Features ◽  
Senior Clinician ◽  
Atypical Presentations ◽  
Immediate Surgery

Abstract Aim British Paediatric surgery guidelines (2019) state ‘immediate surgery should be performed if testicular torsion is suspected’. However, imaging ‘may be considered for a small number of children under the guidance of a senior clinician in late presenters or in those with atypical features. This study reviewed current practice in our hospital. Method Boys aged 16 and under in 2017-2019 who underwent scrotal exploration for suspected testicular torsion were reviewed. Outcomes assessed were number having ultrasound prior to theatre, pathological findings, number who had an orchidectomy, and post-op complications. Additionally, all testicular ultrasounds in those aged under 16 were screened to establish how many were requested for possible or missed torsion. Results 46 patients underwent surgical exploration of which 18 had a confirmed torsion. Six patients had imaging prior to surgery, of which five suggested torsions and four of these were confirmed in theatre. 202 boys under 16 had a testicular ultrasound; 26 of these were for late presentation or those with atypical features of torsion. Three underwent scrotal exploration two of whom had reports suggestive of torsion which was confirmed on exploration. Conclusions Most testicular torsions occur around the age of puberty with no torsion identified in patients under 10. Ultrasound is a useful tool for identification of vascularity or alternative pathology in late or atypical presentations of torsion; but does not replace clinical judgement. Imaging may have prevented unnecessary exploration in 23 cases, although negative imaging did not always preclude exploration.

scholarly journals Family history of type 2 diabetes and characteristics of children with newly diagnosed type 1 diabetes

Diabetologia ◽  
2020 ◽  
Author(s):  
Anna Parkkola ◽  
◽  
Maaret Turtinen ◽  
Taina Härkönen ◽  
Jorma Ilonen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Family History ◽  
Positive Family History ◽  
Newly Diagnosed ◽  
Family History Of Diabetes ◽  
The Family ◽  
History Of

Abstract Aims/hypothesis Shared aetiopathogenetic factors have been proposed in type 1 diabetes and type 2 diabetes and both diseases have been shown to cluster in families. Characteristics related to type 2 diabetes have been described in patients with type 1 diabetes with a positive family history of type 2 diabetes. We wanted to characterise the family history of type 2 diabetes and its possible effects on the phenotype and genotype of type 1 diabetes in affected children at diagnosis. Methods A total of 4993 children under the age of 15 years with newly diagnosed type 1 diabetes from the Finnish Pediatric Diabetes Register were recruited (56.6% boys, median age of 8.2 years) for a cross-sectional, observational, population-based investigation. The family history of diabetes at diagnosis was determined by a structured questionnaire, and markers of metabolic derangement, autoantibodies and HLA class II genetics at diagnosis were analysed. Results Two per cent of the children had an immediate family member and 36% had grandparents with type 2 diabetes. Fathers and grandfathers were affected by type 2 diabetes more often than mothers and grandmothers. The children with a positive family history for type 2 diabetes were older at the diagnosis of type 1 diabetes (p < 0.001), had higher BMI-for-age (p = 0.01) and more often tested negative for all diabetes-related autoantibodies (p = 0.02). Conclusions/interpretation Features associated with type 2 diabetes, such as higher body weight, older age at diagnosis and autoantibody negativity, are more frequently already present at the diagnosis of type 1 diabetes in children with a positive family history of type 2 diabetes. Graphical abstract

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