Eruptive Xanthomas as Cutaneous Manifestation of Familial Combined Dyslipidaemia in an Eleven-year-old: A Case Report

Xanthomas are subcutaneous lipid deposits containing macrophages loaded with cholesterol and cholesterol esters. Although quite common in adults, xanthomas in pediatric population are infrequent and when present, may represent a cutaneous manifestation of underlying lipoprotein disorders which most often are familial. We report a case of eleven-year-old female child, with multiple eruptive xanthomas of skin since two years of age, a positive family history and deranged lipid profile consistent with possible familial Hypercholesterolemia.

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Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm-2018-1037 ◽

2019 ◽

Vol 57 (7) ◽

pp. 1102-1110 ◽

Cited By ~ 3

Author(s):

Maria Donata Di Taranto ◽

Renato de Falco ◽

Ornella Guardamagna ◽

Giulia Massini ◽

Carola Giacobbe ◽

...

Keyword(s):

Lipid Profile ◽

Familial Hypercholesterolemia ◽

Pediatric Population ◽

Genetic Disorder ◽

Genetic Diagnosis ◽

Density Lipoprotein ◽

Compound Heterozygous ◽

Premature Coronary Artery Disease ◽

Degree Relative ◽

Genetic Status

Abstract Background Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in genes involved in low-density lipoprotein (LDL) uptake (LDLR, APOB and PCSK9). Genetic diagnosis is particularly useful in asymptomatic children allowing for the detection of definite FH patients. Furthermore, defining their genetic status may be of considerable importance as the compound heterozygous status is much more severe than the heterozygous one. Our study aims at depicting the genetic background of an Italian pediatric population with FH focusing on the correlation between lipid profile and genetic status. Methods Out of 196 patients with clinically suspected FH (LDL-cholesterol [LDL-C] levels above 3.37 mmol/L, cholesterol level above 6.46 mmol/L in a first-degree relative or the presence of premature cardiovascular acute disease in a first/second-degree relative), we screened 164 index cases for mutations in the LDLR, APOB and PCSK9 genes. Results Patients with mutations (129/164) showed increased levels of LDL-C, 95th percentile-adjusted LDL-C and LDL/high-density lipoprotein (HDL) ratio and decreased levels of HDL-C, adjusted HDL-C. The association of the LDL/HDL ratio with the presence of mutations was assessed independently of age, (body mass index) BMI, parental hypercholesterolemia, premature coronary artery disease (CAD), triglycerides by multivariate logistic regression (odds ratio [OR]=1.701 [1.103–2.621], p=0.016). The LDL/HDL ratio gradually increased from patients without mutations to patients with missense mutations, null mutations and compound heterozygotes. Conclusions In conclusion, the LDL/HDL ratio proved to be a better parameter than LDL-C for discriminating patients with from patients without mutations across different genetic statuses.

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Some Risk Factors of Chronic Functional Constipation Identified in a Pediatric Population Sample from Romania

Gastroenterology Research and Practice ◽

10.1155/2016/3989721 ◽

2016 ◽

Vol 2016 ◽

pp. 1-8 ◽

Cited By ~ 2

Author(s):

Claudia Olaru ◽

Smaranda Diaconescu ◽

Laura Trandafir ◽

Nicoleta Gimiga ◽

Gabriela Stefanescu ◽

...

Keyword(s):

Family History ◽

Dietary Habits ◽

Pediatric Population ◽

Positive Family History ◽

Population Sample ◽

Control Sample ◽

Functional Constipation ◽

Control Group ◽

Significant Difference ◽

History Of

We conducted an observational study over a 1-year period, including 234 children aged 4–18 years and their caregivers and a matching control group. 60.73% of the children from the study group were males. Average age for the onset of constipation was 26.39 months. The frequency of defecation was 1/4.59 days (1/1.13 days in the control group). 38.49% of the patients in the sample group had a positive family history of functional constipation. The majority of children with functional constipation come from single-parent families, are raised by relatives, or come from orphanages. Constipated subjects had their last meal of the day at later hours and consumed fast foods more frequently than the children in the control sample. We found a statistically significant difference between groups regarding obesity/overweight and constipation (χ2=104.94, df=2, p<0.001) and regarding physical activity and constipation (χ2=18.419; df=3; p<0.001). There was a positive correlation between the number of hours spent watching television/using the computer and the occurrence of the disease (F= 92.162,p<0.001, and 95% Cl). Children from broken families, with positive family history, defective dietary habits, obesity and sedentary behavior, are at higher risk to develop chronic functional constipation.

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Aortic compression of the esophagus: A case report and literature review

Acta Radiologica Open ◽

10.1177/20584601211043256 ◽

2021 ◽

Vol 10 (9) ◽

pp. 205846012110432

Author(s):

Manuela Tomforde ◽

Heidi Kupsch ◽

Andreas Christe ◽

Mathias Sturzenegger ◽

Manfred Essig

Keyword(s):

Case Report ◽

Family History ◽

Proton Pump Inhibitor ◽

Gastroesophageal Reflux ◽

Positive Family History ◽

Barium Swallow ◽

Lower Esophagus ◽

Carcinoma Of The Esophagus ◽

Proximal Esophagus ◽

History Of

Distal aortic compression of the lower esophagus with consecutive dilatation of the proximal esophagus was first described in the literature in 1932. Here, the authors describe the case of a 66 year-old male complaining of gastroesophageal reflux. Due to a positive family history of carcinoma of the esophagus and compression of the dorsal esophagus during an esophageal barium swallow test, further tests were performed. Endoscopy and CT exam revealed a dilated esophagus due to compression of a crossing aorta. Because of mild symptoms and the absence of dysphagia, no further treatment was necessary except for the use of a proton pump inhibitor and recommended follow-ups every one to two years.

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Severe Valvular Aortic Stenosis and Homozygous Familial Hypercholesterolemia in a 8 Year Old Female Child - Case Report

Cardiovascular Journal ◽

10.3329/cardio.v1i1.8208 ◽

1970 ◽

Vol 1 (1) ◽

pp. 115-116

Author(s):

S-K A Razzaque ◽

MS Islam ◽

A Haque ◽

A Shariar ◽

MJ Alam ◽

...

Keyword(s):

Case Report ◽

Aortic Stenosis ◽

Familial Hypercholesterolemia ◽

Female Child ◽

Homozygous Familial Hypercholesterolemia ◽

Valvular Aortic Stenosis

DOI: http://dx.doi.org/10.3329/cardio.v1i1.8208 Cardiovasc. j. 2008; 1(1) : 115-116

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

Behavioural Neurology ◽

10.1155/1992/929671 ◽

1992 ◽

Vol 5 (1) ◽

pp. 39-41 ◽

Cited By ~ 3

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.

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POS1326 FAMILIAL PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA)SYNDROME; IS IT A SEPARATE DISEASE?

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2021-eular.3458 ◽

2021 ◽

Vol 80 (Suppl 1) ◽

pp. 945.2-945

Author(s):

Y. Butbul

Keyword(s):

Family History ◽

Pediatric Population ◽

Periodic Fever ◽

Positive Family History ◽

Aphthous Stomatitis ◽

M694v Mutation ◽

Fever Syndromes ◽

History Of ◽

Pfapa Syndrome ◽

Sporadic Disease

Background:Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) is the most common periodic fever syndrome in the pediatric population. Unlike other periodic fever syndromes, the pathogenesis and genetics of PFAPA is unknown. Until recently, PFAPA was believed to be a sporadic disease, yet family clustering has been widely observed and current research indicates that heredity is likely.Objectives:To identify demographic and clinical differences between patients with PFAPA who have a positive family history (FH+) compared to those with PFAPA with no family history (FH-) that can reveal if heritable and sporadic subtypes of this disorder exist.Methods:In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31(14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details.Results:FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003).Conclusion:Our findings suggest that FH+ had probably different subset of disease with higher frequency of family history of FMF arthralgia, myalgia and better response to colchicine. Colchicine prophylaxis for PFAPA should be considered in FH+.Disclosure of Interests:None declared

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Prevention starts from the crib: the pediatric point of view on detection of families at high cardiovascular risk

Italian Journal of Pediatrics ◽

10.1186/s13052-021-00985-x ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Maria Elena Capra ◽

Cristina Pederiva ◽

Giuseppe Banderali ◽

Giacomo Biasucci

Keyword(s):

Cardiovascular Risk ◽

Family History ◽

High Risk ◽

Lipid Profile ◽

Positive Family History ◽

City Hospital ◽

High Cardiovascular Risk ◽

Cvd Risk ◽

Lipid Disorders ◽

Second Degree

Abstract Background Cardiovascular disease (CVD) is one of the main causes of mortality and morbidity in Italy. Hypercholesterolemia is a modifiable CVD risk factor. The detection and treatment of hypercholesterolemia can modify the natural history of CVD, making CVD risk for affected patients comparable to that of unaffected ones. In this scenario, the detection of families at high cardiovascular risk is the first step of CVD prevention. This multicenter, observational study is aimed at finding an effective and non-invasive screening strategy to detect families at high risk for CVD. Methods A survey investigating the knowledge of lipid and CVD issues was distributed to the parents of all infants born at the Neonatology Unit of Piacenza City Hospital and San Paolo Hospital in Milan over a 6 months period. Overall, 554 surveys have been collected. Results 26.8% newborns had parents who knew their own lipid profile, 40.2% had parents who knew the correct normal blood values of total cholesterol, 37.1% had parents who declared to have first or second degree relatives with lipid disorders, 33.7% had parents who declared to have first or second degree relatives with premature CVD Conclusion Collecting a problem-tailored and accurate family history seems to be a good strategy to detect high risk families. Our data suggest that the percentage of adults who are unaware of their lipid profile, with a positive family history for CVD and/or lipid disorders is higher than expected. As a result, even the number of undetected paediatric patients at high cardiovascular risk might be greater than expected.

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Supernumerary Teeth in all 4 Quadrants of a Non- Syndromic Patient with a Positive Family History: A Case Report

Journal of Dentistry Oral Disorders and Therapy ◽

10.15226/jdodt.2014.00120 ◽

2014 ◽

Vol 2 (2) ◽

pp. 01-04

Author(s):

Ezinne Ogbureke

Keyword(s):

Case Report ◽

Family History ◽

Positive Family History ◽

Supernumerary Teeth

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Surgical treatment for breast tumors in children

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh190204031j ◽

2019 ◽

Vol 147 (9-10) ◽

pp. 571-577

Author(s):

Radoica Jokic ◽

Zoran Radovanovic ◽

Jelena Antic ◽

Aleksandar Komarcevic ◽

Ivana Lukic ◽

...

Keyword(s):

Family History ◽

Malignant Tumors ◽

Pediatric Population ◽

Positive Family History ◽

Breast Tumors ◽

Breast Diseases ◽

Breast Masses ◽

Mass Size ◽

The Mean ◽

Novi Sad

Introduction/Objective. Fibroadenoma, often called ?breast mice tumors? due to their mobility, are the most common breast tumors in pediatric population. Considering that some tumors have a potential for rapid growth, breast tissue damage, and that an ideal diagnostic tool has yet to be found, complete mass extirpation might be the treatment of choice. The aim of the study was to present our clinical experience in treating children with breast masses. Methods. A retrospective review (2011?2018) of patients treated for breast tumors at the Institute for Child and Youth Health Care of Vojvodina in Novi Sad was conducted. Results. In this study 29 girls (mean age 15.8 ? 1.8) were included. The majority of masses were located in the upper outer (27.6%) or lower inner (24.1%) breast quadrant. The mean mass diameter was 39.7 mm. It has been observed that the mean mass diameter in the group of girls with positive family history for breast diseases was significantly lower (p < 0.05) than in those with negative family history (27.5 vs. 43.2 mm). There were no proven malignant tumors and all tumors have been completely extirpated. The mean postoperative stay was 1.5 ? 1.02 days. Conclusion. An appropriate radical operative technique dependent on mass size and localization is still the ?gold standard? for treating breast masses in pediatric patients. Cooperation with experts in the field of oncologic breast surgery enables implementing these operative techniques in clinical practice of pediatric surgeons.

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