scholarly journals Pseudohypoparathyroidism-Ib due to novel heterozygous stop gain mutation in exon 8 of STX16 gene: A case report

2021 ◽  
Vol 1 ◽  
pp. 26-29
Author(s):  
Abhishek J. Kulkarni ◽  
Poorvi Chandraprakash Agrawal ◽  
Aditi Shah ◽  
Oneza Kothawala
Keyword(s):  
Autosomal Dominant ◽  
Thyroid Stimulating Hormone ◽  
Age Group ◽  
Familial Cases ◽  
Pediatric Age Group ◽  
Site Of Action ◽  
Renal Action ◽  
Symptomatic Hypocalcemia ◽  
Renal Tubular ◽  
Methylation Defects

We report a case of pseudohypoparathyroidism type 1b (PHP1b) manifesting in childhood with hypocalcemic seizures. Symptomatic hypocalcemia is a common emergency in the pediatric age group with vitamin D deficiency being a frequent underlying etiology and PHP is rare. Patients with PHP1b do not depict the Albright’s hereditary osteodystrophy (AHO) phenotype typical of patients with PHP1a and pseudopseudohypoparathyroidism (PPHP). The resistance to parathyroid hormone (PTH) is documented mostly at renal tubular site of action in patients with PHP1b. Hypothyroidism is reported occasionally, signifying resistance to thyroid-stimulating hormone (TSH). Individuals with autosomal dominant and maternally inherited form of PHP harbor methylation defects at GNAS exon A/B, while sporadic and non-familial cases harbor methylation defects at other locus sites, including differentially methylated regions (GNAS-DMR). A novel heterozygous stop gain mutation c.C910T/p.Arg304X in exon 8 of the STX16 gene (Syntaxin 16) was observed in our case. Resistance seems limited to the renal action of PTH alone as currently, TSH level is normal. Maternal STX16 gene analysis results confirmed the modality of inheritance.

scholarly journals Fahr’s syndrome in adolescence: a case report

2020 ◽  
Vol 10 (3) ◽  
Author(s):  
Karla Costa ◽  
Jamson Nunes Junior ◽  
Guilherme Giunzioni ◽  
Maria de Fatima Rizzo ◽  
Gabriela Paladini
Keyword(s):  
Autosomal Dominant ◽  
Age Group ◽  
Pediatric Age ◽  
Fahr’S Disease ◽  
Pediatric Age Group ◽  
Incurable Disease ◽  
Fahr's Disease ◽  
Immunodeficiency Virus ◽  
The Central Nervous System ◽  
Irreversible Evolution

We present here a case of Fahr’s disease in the pediatric age group. Fahr’s disease is a neurological, degenerative and rare disease, especially in this age group. It differs from Fahrs syndrome, which is associated with infectious pathologies, such as human immunodeficiency virus infection and metabolic causes, such as hypoparathyroidism. In contrast, Fahr’s disease has an idiopathic or familial cause and is related to neuropsychic symptoms. However, the differentiation of these terms is still poorly established in the literature. It has an unknown prevalence and affects individuals of both sexes in any age group, and individuals from the 4th decade are more likely to develop it. It has polygenic etiology being autosomal dominant, characterized by abnormal deposits of minerals, including mainly calcium and phosphate in the basal ganglia. It presents extra-pyramidal, psychiatric and epileptic manifestations. It is an incurable disease with progressive and irreversible evolution. Due to the involvement of the central nervous system, the prognosis is reserved and eventually fatal. The patient in question was MF, 15-years-old, male, with severe holocranial headache and convulsive crisis with findings of calcifications in the base ganglia bilaterally tomography of the skull.

scholarly journals Familial Florid Cemento-Osseous Dysplasia: A Rare Manifestation in an Indian Family

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Adit Srivastava ◽  
Rahul Agarwal ◽  
Romesh Soni ◽  
Avesh Sachan ◽  
G. C. Shivakumar ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Phenotypic Expression ◽  
Age Group ◽  
Maxillofacial Region ◽  
Indian Family ◽  
Familial Cases ◽  
Osseous Dysplasia ◽  
Rare Manifestation ◽  
Mode Of Transmission

Florid cemento-osseous dysplasia (FCOD) is one of the uncommon dysplasias affecting the maxillofacial region. The age group may vary from 19 to 76 years and typically presents in the 4th and 5th decades. In most cases patients do not have hereditary basis of disease, and only a few familial cases have been documented. As far as we know this is the 1st reported case of familial FCOD in an Indian family. The mother and son exhibited multiple sclerotic masses in both jaws. The mode of transmission appeared to be autosomal dominant with variable phenotypic expression.

scholarly journals Clinico-epidemiological study of genodermatoses in pediatric age group

2019 ◽  
Vol 6 (1) ◽  
pp. 34
Author(s):  
Kalyan Dalave ◽  
Mahendra Singh Deora ◽  
Sonia Sabhandasani ◽  
Pallavi Singh ◽  
Alisha Mittal ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Autosomal Dominant ◽  
Genetic Diseases ◽  
Clinical Information ◽  
Epidemiological Data ◽  
Age Group ◽  
Systemic Involvement ◽  
Medical College ◽  
Pediatric Age Group ◽  
Epidemiological Trends

<p class="abstract"><strong>Background:</strong> Genetic diseases causing abnormalities in structure and<strong>/</strong>or function of skin are termed as genodermatoses. As there is paucity of epidemiological data of genodermatoses from our country, this study was conducted to determine the latest clinical and epidemiological trends of pediatric genodermatoses.</p><p class="abstract"><strong>Methods:</strong> A hospital-based observational study consisting of 35 clinically diagnosed pediatric genodermatoses cases, who reported to the Dermatology OPD, Dr. D.Y. Patil Medical College, Pune, was conducted for a period of two years. Socio-demographic and clinical information was collected and clinical examination was performed on all patients to record any cutaneous<strong>/</strong>extra-cutaneous abnormality. The participants were then subjected to necessary investigations to elucidate the additional disease components. The data was evaluated using appropriate statistical methods.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 4032 pediatric patients<strong>, </strong>35 were found to have genodermatoses.<strong> </strong>Majority (57.14%) cases belonged to the first decade of life. There was no sexual predilection (male:female - 0.94:1). The commonest genodermatoses detected were neurofibromatosis and tuberous sclerosis (17.14% each). Most common mode of inheritance seen was autosomal dominant (57.14%). Family history and consanguinity were recorded in 45.71% and 22.86% cases respectively. Café-au-lait macules seen in 22.86% cases and ocular anomalies recorded in 34.38% cases were the commonest cutaneous and extracutaneous manifestations, respectively.</p><p class="abstract"><strong>Conclusions:</strong> Genodermatoses are rare skin disorders with systemic involvement at times, resulting in poorer prognosis. This necessitates more focus on this speciality.</p>

Atypical Osteoid Osteoma of sacral region in pediatric age group: a case report

2017 ◽  
pp. 28-31
Author(s):  
Shashi Sharma ◽  
Sakshi Dewan ◽  
Naveen Bhardwaj ◽  
Mir Aziz ◽  
Shilpa Singh ◽  
...  
Keyword(s):  
Case Report ◽  
Osteoid Osteoma ◽  
Age Group ◽  
Pediatric Age ◽  
Sacral Region ◽  
Pediatric Age Group ◽  
Group A

Antiticiombin III Deficiency In A Large Family with 41 Affected Members

1981 ◽  
Author(s):  
J Stibbe ◽  
S Adhin ◽  
G L Ong ◽  
R S Panday ◽  
S H Peters ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Large Family ◽  
Clinical Information ◽  
Impedance Plethysmography ◽  
Age Group ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pills ◽  
At Iii ◽  
L 51 ◽  
First Time

Hereditary Antithrombin III (AT III) deficiency was found in a large Hindustani family, living partly in the Netherlands, partly in Suriname. Of 201 members investigated 35 were found to affected: AT III activity (chromogenic substrate) and AT III antigen (immuno-electrophoresis according to Laurell) were about 45 %. Analysis of this fanily clearly demonstrated the autosomal dominant inheritance of the condition. Six non-investigated members (1 living, 5 non-living) were diagnosed as being affected on the basis of affected offspring.Seventeen affected members had no signs of thrombo-embolic(TE) processes (age group 0-10 years old, n=2; 11-20, n=5; 21-30, n=4; 31-40, n=4; 41-50, n=2). Thirteen showed clinical or proven signs of TE processes (first time in age group 0-10 years old, n=0; 11-20, n=l; 21-30, n=G; 31-40, n=4; 41-50,n=l; 51-60, n=0; 61-70, n=l). No clinical information is yet available on the remaining affected members. Deep venous thrombosis (DVT) occurred in 9 patients (age group 21-30, n=5; 31-40, n=3; 61-70, n=l). Triggering factors were none 4, surgery 1, oral contraceptives and preg- nancy4. Pulmonary embolism occurred in 6 patients (2 clinical, 4 proven) and was fatal in 4; ages were 19, 21, 26, 37, 48 and 68 years old. Pregnancy was uncomplicated in 3 women (total of 4 pregnancies), one of these women was treated prophylactically with anticoagulants during pregnancy (1 pregnancy). Two women (9 pregnancies) had a thrombotic episode (1st and 3rd pregnancy respectively) and 1 woman died suddenly 7 days after her 7th childbirth. DVT occurred in 2 of 4 women who used oral contraceptive pills.In some symptomless patients (age 22, 26, 32, 33, 40 years old) impedance plethysmography (n=5), 125I-fibrinogen leg scanning (n=3), 125I-fibrinogen T½(n=3) and 51C-platelet survival (n=l) were normal

scholarly journals Congenital Lumbar Hernia in an 8-Month-Old Boy

2021 ◽  
Vol 15 (1) ◽  
pp. 431-435
Author(s):  
Mohamed Mansy ◽  
Mostafa Kotb ◽  
Mohamed Abouheba
Keyword(s):  
Congenital Anomalies ◽  
Lumbar Hernia ◽  
The Body ◽  
Age Group ◽  
Pediatric Age ◽  
Operative Repair ◽  
Pediatric Age Group ◽  
Organ Systems

Congenital lumbar hernias are uncommonly seen in the pediatric age group, with only about 60 cases reported in the literature. It is usually accompanied by a multitude of congenital anomalies involving different organ systems of the body. For instance, it may involve the ribs, spine, muscles, and the kidneys. Herein, we report a case of congenital lumbar hernia in an 8-month-old boy who underwent an operative repair using a mesh with an uneventful outcome.

scholarly journals The enlarging head and neck mass in infants and pediatric age group

2020 ◽  
Vol 16 ◽  
pp. 100199
Author(s):  
Archwin Tanphaichitr ◽  
Songphon Nuchawong ◽  
Dev Kamdar ◽  
Morris C. Edelman ◽  
Dhave Setabutr
Keyword(s):  
Head And Neck ◽  
Neck Mass ◽  
Age Group ◽  
Pediatric Age ◽  
Pediatric Age Group

Renal Tubular Site of Action of Fluoride in Fischer 344 Rats

1977 ◽  
Vol 46 (4) ◽  
pp. 260-264 ◽  
Author(s):  
Richard J. Roman ◽  
J. Roland Carter ◽  
William C. North ◽  
Michael L Kauker ◽  
J. A. McNally
Keyword(s):  
Fischer 344 Rats ◽  
Fischer 344 ◽  
Site Of Action ◽  
Renal Tubular
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