Differential diagnosis of pseudotrisomy 13 syndrome

AbstractPseudotrisomy 13 syndrome is determined by the combination of three findings: holoprosencephaly, postaxial polydactyly, and a normal karyotype. We report two cases of a prenatal diagnosis of pseudotrisomy 13 syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype and karyotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remains unclear; however, it is thought to be monogenic and inherited as an autosomal recessive disorder. Given the poor prognosis and the easily recognizable malformations associated with this disease, it is important to perform an early diagnosis.

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Malignant Deciduoid Mesothelioma: A Diagnostic Challenge

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-403-mdmadc ◽

2005 ◽

Vol 129 (3) ◽

pp. 403-406 ◽

Cited By ~ 2

Author(s):

Najat Mourra ◽

Cecilede Chaisemartin ◽

Isabelle Goubin-Versini ◽

Rolland Parc ◽

Jean-Francois Flejou

Keyword(s):

Differential Diagnosis ◽

Cesarean Section ◽

Tumor Cells ◽

Elderly People ◽

Young Women ◽

Poor Prognosis ◽

Diagnostic Challenge ◽

Keratin 5 ◽

The Poor ◽

Rare Phenotype

Abstract Malignant deciduoid mesothelioma, a rare phenotype of epithelioid mesothelioma, arises more commonly from the peritoneum of young women, but it is also reported in the pleura of elderly people. We report a case of malignant deciduoid mesothelioma that occurred in a 41-year-old woman after cesarean section and was initially misdiagnosed as pseudotumoral deciduosis. Microscopically, the tumor was entirely composed of deciduoid areas, and only scattered tumor cells were positive for calretinin and keratin 5/6. The patient died 14 months after the first operation. This observation confirms the poor prognosis of this entity and the importance of the differential diagnosis of pseudotumoral deciduosis.

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Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

Case Reports in Dentistry ◽

10.1155/2015/817989 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6 ◽

Cited By ~ 2

Author(s):

Aisha Khoja ◽

Mubassar Fida ◽

Attiya Shaikh

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Bone Turnover ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Great Emphasis ◽

Treatment Goals ◽

Oral Complications ◽

Characteristic Features ◽

Insight Into

Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

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Beta-ketothiolase deficiency brought with lethargy: Case report

Human & Experimental Toxicology ◽

10.1177/0960327110396533 ◽

2011 ◽

Vol 30 (10) ◽

pp. 1724-1727 ◽

Cited By ~ 1

Author(s):

Vefik Arica ◽

Secil Gunher Arica ◽

Huseyin Dag ◽

Hatice Onur ◽

Ömer Obut ◽

...

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Blood Glucose ◽

Amino Acid ◽

Ketone Body ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Branched Chain Amino Acid ◽

Amino Acid Levels ◽

Branched Chain

Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

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A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome

Medicina ◽

10.3390/medicina57030272 ◽

2021 ◽

Vol 57 (3) ◽

pp. 272

Author(s):

Gina Nam ◽

Angela Cho ◽

Mi-hye Park

Keyword(s):

Pregnant Woman ◽

Prenatal Diagnosis ◽

Preterm Labor ◽

Autosomal Recessive ◽

Genetic Diagnosis ◽

Autosomal Recessive Disorder ◽

Bartter Syndrome ◽

Case Presentation ◽

Good Clinical Condition

Background: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only be confirmed following a clinical diagnosis in infants. Reports of prenatal diagnosis and treatment of antenatal Bartter syndrome are limited. Case Presentation: We present the case of a 33-year-old pregnant woman with refractory polyhydramnios at 31 weeks of gestation. There were no structural anomalies or placental problems on ultrasonography; therefore, antenatal Bartter syndrome was suspected. With repeated amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks of gestation. The clinical features of the infant and subsequent genetic testing confirmed the diagnosis of antenatal Bartter syndrome. The baby was in good clinical condition at the 3-month follow-up visit. Conclusions: For pregnant women with early onset and refractory severe polyhydramnios without morphological anomalies, antenatal Bartter syndrome should be highly suspected.

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Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Genes ◽

10.3390/genes11121518 ◽

2020 ◽

Vol 11 (12) ◽

pp. 1518

Author(s):

Simone Reiter ◽

Barbara Wallner ◽

Gottfried Brem ◽

Elisabeth Haring ◽

Ludwig Hoelzle ◽

...

Keyword(s):

United States ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

The United States ◽

Syndrome Type ◽

Reference Allele ◽

Single Nucleotide ◽

Similar Phenotype ◽

The 19Th Century

Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.

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Fecal Excretion of Rose Bengal I131 in the Diagnosis of Obstructive Jaundice in Infancy with Special Reference to Biliary Atresia

PEDIATRICS ◽

10.1542/peds.48.6.966 ◽

1971 ◽

Vol 48 (6) ◽

pp. 966-969

Author(s):

João Gilberto Maksoud ◽

Anneliese Fischer Thom ◽

Julio Kieffer ◽

Virgilio A. Carvalho Pinto

Keyword(s):

Differential Diagnosis ◽

Obstructive Jaundice ◽

Biliary Atresia ◽

Special Reference ◽

Rose Bengal ◽

Poor Prognosis ◽

Surgical Intervention ◽

Correct Diagnosis ◽

Fecal Excretion ◽

The Poor

Despite the poor prognosis of biliary atresia, there are a small number of cases in which early surgery will be of real benefit. Every effort must therefore be made to arrive at the correct diagnosis as quickly as possible so as not to delay surgical intervention. In our experience, FERB I131 has been the most reliable diagnostic test; we are convinced that this test must be done in every case in which the differential diagnosis of neonatal or infantile jaundice is not clear.

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Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family

Blood ◽

10.1182/blood-2002-10-3116 ◽

2003 ◽

Vol 101 (9) ◽

pp. 3492-3494 ◽

Cited By ~ 29

Author(s):

Marguerite Neerman-Arbez ◽

Dung Vu ◽

Bassam Abu-Libdeh ◽

Isabelle Bouchardy ◽

Michael A. Morris

Keyword(s):

Prenatal Diagnosis ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Direct Sequencing ◽

Autosomal Recessive Disorder ◽

Causative Mutation ◽

Chain Gene ◽

Congenital Afibrinogenemia ◽

The Media ◽

Homozygous Deletions

Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease, homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Subsequent analyses revealed that most afibrinogenemia alleles are truncating mutations of FGA, although mutations in all 3 fibrinogen genes, FGG, FGA andFGB have been identified. In this study, we performed the first prenatal diagnosis for afibrinogenemia. The causative mutation in a Palestinian family was a novel nonsense mutation in theFGB gene, Trp467Stop (W467X). Expression of the Trp467Stop mutant FGB cDNA in combination with wild-typeFGA and FGG cDNAs showed that fibrinogen molecules containing the mutant beta chain are not secreted into the media. The fetus was found to be heterozygous for the Trp467Stop mutation by direct sequencing and by linkage analysis, a result that was confirmed in the newborn by intermediate fibrinogen levels.

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Postnatal diagnosis of harlequin ichthyosis a case report

International Journal of Pregnancy & Child Birth ◽

10.15406/ipcb.2021.07.00224 ◽

2021 ◽

Vol 7 (2) ◽

pp. 40-43

Author(s):

Mohammed Ahmed Ibrahim Ahmed ◽

Mohamed Ali Saad Mohamed ◽

Salwa Ahmed Mohammed Abbas ◽

Athar Asim Ahmed Mohammed ◽

Nosiba Ibrahim Hammed Alyamani

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Neonatal Death ◽

Poor Prognosis ◽

Autosomal Recessive ◽

Inheritance Pattern ◽

Extreme Type ◽

Postnatal Diagnosis ◽

Harlequin Ichthyosis ◽

Epidermal Membrane

Objective: Ichthyoses are cornification disorders in which irregular epidermal separation and desquamation result in a faulty epidermal membrane. Harlequin ichthyosis (HI) was a rare and extreme type that led to neonatal death. It was caused by mutations in the ABCA12 gene, and the inheritance pattern is autosomal recessive. Case report: We present a case of HI that was diagnosed postnatally by clinical review. Extreme ectropion, eclabium, flattened nose, and primitive ears were discovered in the fetus. As a result of HI complications, the fetus died. Conclusion: The presence of HI was linked to a poor prognosis and a high mortality rate. Prenatal ultrasound and genetic analysis were critical for prenatal diagnosis of HI, but genetic modalities were not available and were prohibitively costly, despite their utility in providing appropriate prenatal therapy to families with HI babies. This case was recorded because of its rarity, as well as to draw attention to the connection between.

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Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

Journal of Pediatric Genetics ◽

10.1055/s-0040-1721826 ◽

2021 ◽

Author(s):

Davor Petrović ◽

Vida Čulić ◽

Zofia Swinderek-Alsayed

Keyword(s):

Low Income ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Joubert Syndrome ◽

Interesting Case ◽

Low Income Countries ◽

Ocular Motor ◽

Quality Health Care ◽

Quality Health ◽

Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

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A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

Journal of Pediatric Genetics ◽

10.1055/s-0040-1719161 ◽

2020 ◽

Author(s):

Hasan Akduman ◽

Dilek Dilli ◽

Serdar Ceylaner

Keyword(s):

Mutation Analysis ◽

Autosomal Recessive ◽

Glucose Transporter ◽

Neonatal Period ◽

Autosomal Recessive Disorder ◽

Homozygous Mutation ◽

New Mutation ◽

Early Neonatal Period ◽

Sodium Dependent ◽

Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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