scholarly journals Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

2021 ◽  
pp. 470-473
Author(s):  
Sultan Al-Khenaizan ◽  
Asma AlSwailem ◽  
Mohammed Ali AlBalwi
Keyword(s):  
Early Childhood ◽  
Premature Birth ◽  
Autosomal Recessive ◽  
Initiation Codon ◽  
Codon Site ◽  
Rare Form ◽  
Distinctive Features ◽  
Neonatal Asphyxia ◽  
Homozygous Variant ◽  
Clinical Triad

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the <i>SLC27A4</i> gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (<i>c</i>.<i>1</i> A&#x3e; <i>G</i>, <i>p</i>.<i>Met1Val</i>) in the <i>SLC27A4</i> gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

2020 ◽  
Author(s):  
Matthias Eckenweiler ◽  
Johannes A. Mayr ◽  
Sarah Grünert ◽  
Angela Abicht ◽  
Rudolf Korinthenberg
Keyword(s):  
Early Childhood ◽  
Early Diagnosis ◽  
Metabolic Disorder ◽  
Autosomal Recessive ◽  
Psychomotor Development ◽  
Compound Heterozygosity ◽  
Pathogenic Variants ◽  
Clinical Stabilization ◽  
Biotin Supplementation ◽  
Thiamine Treatment

AbstractEpisodic encephalopathy due to mutations in the thiamine pyrophosphokinase 1 (TPK1) gene is a rare autosomal recessive metabolic disorder. Patients reported so far have onset in early childhood of acute encephalopathic episodes, which result in a progressive neurologic dysfunction including ataxia, dystonia, and spasticity. Here, we report the case of an infant with TPK1 deficiency (compound heterozygosity for two previously described pathogenic variants) presenting with two encephalopathic episodes and clinical stabilization under oral thiamine and biotin supplementation. In contrast to other reported cases, our patient showed an almost normal psychomotor development, which might be due to an early diagnosis and subsequent therapy.

scholarly journals Multiple Nail Candidosis in a Child with APECED Syndrome

2019 ◽  
Vol 4 (1) ◽  
pp. 01-01
Author(s):  
Chaouche M ◽  
Dah Cherif A ◽  
Barbach Y ◽  
Gallouj S ◽  
Mernissi FZ
Keyword(s):  
Early Childhood ◽  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Tissue Specific ◽  
Rare Autosomal Recessive Disorder ◽  
Mucocutaneous Candidiasis ◽  
Classic Triad ◽  
Autoimmune Polyendocrinopathy ◽  
Dermatological Disorders

The APECED syndrome (autoimmune polyendocrinopathy, candidosis, ectodermal dystrophy) is a rare autosomal recessive disorder that develops in early childhood and results in tissue-specific multiorgan autoimmunity, leading to the hypofunction of multiple glands. Is clinically defined as the presence of at least two components of the classic triad of hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. We report a case in a child, illustrating the importance of dermatological disorders.

scholarly journals SAT-062 Twins with a Homozygous Variant of ARNT2, This Is a Known Saudi Mutation (KSM) of Webb- Dattani Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Abdullah Abdulruhman Aljasser
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Cortical Blindness ◽  
High Signal ◽  
Thin Corpus Callosum ◽  
Homozygous Variant ◽  
Saudi Family ◽  
Delayed Myelination

Abstract Webb-Dattani syndrome (WEDAS) is an autosomal recessive disorder caused by mutation in the ARNT2 gene characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency. The condition is reported to be associated with consanguinity and with Saudi Arabian ancestry. We presented twin baby girls with developmental delayment seizures, and microcephaly. They have also hypopituitarism in the form of diabetes insipidus and hypocortlisim. also they have cortical blindness. Their brain MRI shows brain atrophic changes and delayed myelination thin corpus callosum,and small pituitary gland ad absence posterior high signal spot and pituitary stalk. Genetic testing by Exome sequencing was done and it shows A homozygous variant of ARNT2 (ARNT2:NM_014862:exon3:c.147-1G&gt;A). One of this twin her condition deteriorated with uncontrolled seizures and spasticity and died at age 22 months. Conclusion: we report another cases of the ARNT2 mutation in a Saudi family illustrating the disease of webb-dattani Syndrome with seizures and hypopituitarism and severe visual impairment and global developmental delayment.

Comprehensive genomic profiling of urethral cancer to reveal distinctive features compared to bladder cancer.

2017 ◽  
Vol 35 (6_suppl) ◽  
pp. 429-429
Author(s):  
Tanya B. Dorff ◽  
Julia Andrea Elvin ◽  
Jo-Anne Vergilio ◽  
James Suh ◽  
Shakti Ramkissoon ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Genomic Alteration ◽  
Genomic Profiling ◽  
Rare Form ◽  
Distinctive Features ◽  
Ffpe Specimen ◽  
Comprehensive Genomic Profiling ◽  
Tumor Mutational Burden ◽  
Copy Number Changes ◽  
Homozygous Deletions

429 Background: Relapsed and refractory urethral cancer (UrethC) is a rare form of genito-urinary malignancy that includes urothelial carcinoma (UC), squamous cell carcinoma (SCC), adenocarcinoma (AC) and clear cell carcinoma (CCC) subtypes. No standard treatment exists. Methods: DNA was extracted from 40 microns of FFPE specimen from 46 cases of mUrethC. Comprehensive genomic profiling (CGP) was performed using a hybrid-capture, adaptor ligation based next generation sequencing assay to a mean coverage depth of >500X. Tumor mutational burden (TMB) was calculated from a minimum of 1.11 Mb of sequenced DNA as previously described and reported as mutations/Mb. The results were analyzed for all classes of genomic alterations (GA), including base substitutions, insertions and deletions (short variants; SV), fusions, and copy number changes including amplifications (amp) and homozygous deletions. Results: The clinical features, GA, TMB findings in the mUrethC patients and the subtypes of UrethC are shown in the Table. In comparison with 1,183 similarly profiled UC of the bladder (UCB), all 46 mUrethC and the 21 urothelial mUrethC as a separate group widely differed in GA frequencies. With the exception of similar TP53 GA frequencies, there were significantly lower GA in ERBB2, FGFR1-3 and PIK3CAin the mUrethC cases (p<0.0001 for all comparisons) In addition, mUrethC featured as significantly lower frequency of TMB > 20 mut/Mb (4%; p=0.0001). Conclusions: CGP of mUrethC reveals distinctive genomic alteration frequencies among the 4 disease subtypes with higher numbers of GA in the AC than in the UC, SCC and CCC. The TMB appears to be lower in mUrethC than classically seen in UCB where checkpoint inhibition is now approved. Further study of this rare form of genitourinary cancer appears warranted. [Table: see text]

scholarly journals Van der Knaap disease

2019 ◽  
Vol 7 (10) ◽  
pp. 3917
Author(s):  
Manoj Kumar Mahata ◽  
Saikat Ghosh ◽  
K. C. Ghosh ◽  
R. Bhattacharya ◽  
G. P. Mondal
Keyword(s):  
Cognitive Impairment ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Rare Form ◽  
Temporal Lobes ◽  
Mri Brain ◽  
Early Onset Ataxia ◽  
Subcortical Cysts

Van der Knaap disease is a rare form of leukodystrophy, phenotypically characterized by megalencephaly, early-onset ataxia, pyramidal features, cognitive impairment, with an autosomal recessive inheritence. MRI Brain shows T1 and FLAIR hypointense subcortical cysts in mostly temporal lobes and in fronto-parietal subcortical areas. Authors report a 20 yr. girl with typical features.

scholarly journals ETYOLOGY OF CIRCULAR CARIES

2019 ◽  
Vol 31 (4) ◽  
pp. 829-833
Author(s):  
Olga Kokoceva-Ivanovskа ◽  
Efka Zabokova-Bilbilovska ◽  
Aneta Mijoska
Keyword(s):  
Early Childhood ◽  
Premature Birth ◽  
Early Childhood Caries ◽  
Normal Pregnancy ◽  
Health Condition ◽  
First Year ◽  
Developmental Phase ◽  
Pathological Pregnancy ◽  
Premature Born ◽  
Childhood Caries

In everyday dental practice, because of the incorrect diet and the absence of oral hygiene in the earliest childhood age, we increasingly face the problem of diagnosing circular cavities in the advanced developmental phase. The aim of the research was to show whether the diseases and complications which occur during the pregnancy period of the mother, and the child’s health condition immediately after the birth, affect the appearance and predisposition of the circular caries. Our examines were children 2-3 years old, where during the standard check-ups we diagnosed starting phases of circular caries-initial lesion (white spot) and superficial form. A questionnaire prepared in advance was given to the mothers of the children diagnosed with circular caries, where we inserted the data for the period of pregnancy (pathologic pregnancy, premature birth with complications and normal pregnancy without any complications) as well as the diseases of the children during the first year of their life (bronchitis, pneumonias, infective diseases). After elaborating the data from the questionnaire, we got the number of 28.21% mothers who had pathological pregnancy and 18.80% had premature birth accompanied with complications. In the first year of the age 35.38% of the children had bronchitis, pneumonias and very often 10% infective diseases. The analysis of the results showed that the circular caries so called early childhood caries is present more often at children whose mothers had pathological pregnancy, premature born children and children who were often ill during the first year of age. These results prove that the fact that problematic pregnancy and the child’s state of health immediately after the birth are factors of predisposition to the appearance of the early childhood caries.

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