Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses

2001 ◽  
Vol 4 (2) ◽  
pp. 180-184 ◽  
Author(s):  
F. Daïkha-Dahmane ◽  
M. Dommergues ◽  
F. Narcy ◽  
M.C. Gubler ◽  
Y. Dumez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Histological Examination ◽  
Autosomal Recessive ◽  
Dna Analysis ◽  
Autosomal Recessive Disease ◽  
Type I ◽  
Autopsy Findings ◽  
Congenital Erythropoietic Porphyria ◽  
Made In

Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus.

Magnetic resonance imaging findings of adult-onset glutaric aciduria type I

2007 ◽  
Vol 48 (5) ◽  
pp. 557-559 ◽  
Author(s):  
G. Sonmez ◽  
H. Mutlu ◽  
E. Ozturk ◽  
H. O. Sildiroglu ◽  
A. T. Keskin ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Glutaric Aciduria ◽  
Glutaric Acidemia Type I ◽  
Glutaric Aciduria Type I

Glutaric aciduria or glutaric acidemia type I, an autosomal recessive disease, usually presents with an acute encephalopathic crisis in young children. We report the magnetic resonance (MR) and proton MR spectroscopy (MRS) imaging findings of a previously healthy 20-year-old man who presented with recurrent headaches. Organic acids from the patient's urine contained large amounts of adipate, glutarate, and 3-hydroxyglutarate consistent with glutaric aciduria type I.

scholarly journals Intracranial Calcifications in Autoimmune Polyendocrine Ectodermal Dystrophy Syndrome (APECED): About A Case Report

2021 ◽  
pp. 1-3
Author(s):  
Benfaddoul O ◽  
◽  
Zouita B ◽  
El azzouzi B ◽  
Basraoui N ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Chronic Mucocutaneous Candidiasis ◽  
Type I ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrinopathy ◽  
Life Threatening ◽  
Autoimmune Polyglandular Syndrome Type

Autoimmune polyendocrinopathy ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS I), is an uncommon, but debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE), It is characterized by a broad and diverse clinical spectrum which can lead to severe metabolic alterations and eventually life-threatening events. Hypoparathyroidism is one of the major criteria for clinical diagnosis, in addition to chronic mucocutaneous candidiasis and autoimmune adrenal insufficiency. This component is responsible for the forming of brain calcifications which tend to have a characteristic predilection for the basal ganglia. In this article, we report an additional case to the literature and provide a literature review of the expanding radiological spectrum of this syndrome

scholarly journals Prenatal diagnosis of homozygous alpha thalassaemia by direct DNA analysis of uncultured amniotic fluid cells.

BMJ ◽  
1984 ◽  
Vol 288 (6427) ◽  
pp. 1327-1329 ◽  
Author(s):  
V Chan ◽  
A Ghosh ◽  
T K Chan ◽  
V Wong ◽  
D Todd
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Dna Analysis ◽  
Amniotic Fluid Cells ◽  
Alpha Thalassaemia

scholarly journals The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

2018 ◽  
Vol 19 (8) ◽  
pp. 2218 ◽  
Author(s):  
Valentina Citro ◽  
Chiara Cimmaruta ◽  
Maria Monticelli ◽  
Guglielmo Riccio ◽  
Bruno Hay Mele ◽  
...  
Keyword(s):  
General Population ◽  
Autosomal Recessive ◽  
Biochemical Analysis ◽  
Autosomal Recessive Disease ◽  
Type I ◽  
Missense Mutations ◽  
Loss Of Function ◽  
Phenotype Correlation ◽  
Phenotypic Spectrum ◽  
Partial Deficiency

Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N-glycosylation of proteins. PMM2-CDG is an autosomal recessive disease with a large phenotypic spectrum, and is associated with mutations in the PMM2 gene. The biochemical analysis of mutants does not allow a precise genotype–phenotype correlation for PMM2-CDG. PMM2 is very tolerant to missense and loss of function mutations, suggesting that a partial deficiency of activity might be beneficial under certain circumstances. The patient phenotype might be influenced by variants in other genes associated with the type I disorders of glycosylation in the general population.

A rare case of epignatus in the fetus

2017 ◽  
Author(s):  
N.V. Mashinets, V.N. Demidov, Y.L. Podurovskaya et all
Keyword(s):  
Blood Flow ◽  
Case Report ◽  
Prenatal Diagnosis ◽  
Surgical Treatment ◽  
Amniotic Fluid ◽  
Histological Examination ◽  
Tumor Size ◽  
Rare Case ◽  
Review Of The Literature ◽  
Positive Effect

We present a review of the literature and own case report of prenatal diagnosis of epignatus at 31 week of gestation. Ultrasound of the fetus revealed a massive formation of solid structure of the blubber of the mouth. The size of epignatus was 3,0  3,0  2,8 cm, intratumoral blood flow was not determined, the amount of amniotic fluid was normal. With the progression of pregnancy the tumor size has not increased. After the birth the neonate was an independent breath. Carried out surgical treatment with a positive effect. The diagnosis of epignatus confirmed by histological examination.

scholarly journals Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

2014 ◽  
Vol 4 ◽  
pp. 20 ◽  
Author(s):  
Eduardo Felix Martins Santana ◽  
Priscila Nogueira Oliveira Serni ◽  
Liliam Cristine Rolo ◽  
Edward Araujo Júnior
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Autosomal Recessive ◽  
Pulmonary Hypoplasia ◽  
Autosomal Recessive Disease ◽  
Three Dimensional ◽  
Fetal Malformations ◽  
Adequate Evaluation ◽  
Rare Autosomal Recessive Disease

Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.

First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination

1990 ◽  
Vol 10 (2) ◽  
pp. 133-134 ◽  
Author(s):  
C. Jakobs ◽  
F. Stellaard ◽  
E. A. Kvittingen ◽  
M. Henderson ◽  
R. Lilford
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
First Trimester ◽  
Type I ◽  
Tyrosinemia Type I

scholarly journals Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Neerja Gupta ◽  
Anita Kaul ◽  
Madhulika Kabra
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Autosomal Recessive ◽  
Dna Analysis ◽  
Fetal Life ◽  
Fetal Ultrasound ◽  
Genetic Syndrome ◽  
First Case ◽  
The Family ◽  
Syndrome Diagnosis

Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

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