Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

Abstract Background Cerebro-oculo-facio-skeletal syndrome (COFS) is a severe and progressive neurologic condition characterized by prenatal onset of arthrogryposis, cataract, microcephaly and growth failure. The aim of this study was to present a case of recurrence of the COFS syndrome and to propose a differential diagnosis flow-chart in case of prenatal findings of arthrogryposis and cataract. Case presentation We report a case of recurrence of COFS3 syndrome within the same family, with similar diagnostic features. In the first case the COFS syndrome remained undiagnosed, while in the second case, due to prenatal findings of arthrogryposis and cataract, genetic investigation focusing on responsible genes of COFS (ERCC5, ERCC6 and FKTN genes) was carried out. The fetus was found to be compound heterozygous for two different ERCC5 mutations, confirming the clinical suspect of COFS syndrome. A review of the literature on possible causative genes of prenatal cataract and arthrogryposis was performed and we present a flow-chart to guide differential diagnosis and possible genetic testing in case of these findings. Conclusion COFS syndrome is a rare autosomic recessive condition. However, it can be suspected and diagnosed prenatally. The flow-chart illustrates a pathway to guide differential diagnosis according to the prenatal findings. Main syndromes, key testing and specific genes are included. Targeted molecular testing should be offered to the couple in order to reach a diagnosis and assess the recurrence risk for future pregnancies.

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Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

10.21203/rs.2.11655/v2 ◽

2019 ◽

Author(s):

jun liu ◽

Xu-Yun Hu ◽

Zhi-Peng Zhao ◽

Ruo-Lan Guo ◽

Jun Guo ◽

...

Keyword(s):

Donor Site ◽

Severe Neutropenia ◽

Recurrent Fever ◽

Neutrophilic Dermatosis ◽

Molecular Testing ◽

Compound Heterozygous ◽

Case Presentation ◽

Reactive Protein ◽

Pathogenic Variants ◽

Moderate Anemia

Abstract Background: Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. Case presentation: We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327+1G>C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in LPIN2. Conclusions: Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.

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Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

BMC Medical Genetics ◽

10.1186/s12881-019-0919-3 ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 2

Author(s):

Jun Liu ◽

Xu-Yun Hu ◽

Zhi-Peng Zhao ◽

Ruo-Lan Guo ◽

Jun Guo ◽

...

Keyword(s):

Donor Site ◽

Severe Neutropenia ◽

Recurrent Fever ◽

Neutrophilic Dermatosis ◽

Molecular Testing ◽

Compound Heterozygous ◽

Case Presentation ◽

Reactive Protein ◽

Pathogenic Variants ◽

Moderate Anemia

Abstract Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. Case presentation We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327 + 1G > C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in LPIN2. Conclusions Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.

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Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report

BMC Pediatrics ◽

10.1186/s12887-019-1751-9 ◽

2019 ◽

Vol 19 (1) ◽

Author(s):

Linlin Zhang ◽

Yingying Li ◽

Wenli Shi ◽

Jinshuang Gao ◽

Yuan Tian ◽

...

Keyword(s):

Differential Diagnosis ◽

Autosomal Recessive Disorder ◽

Amplicon Sequencing ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Splicing Mutation ◽

Case Presentation ◽

Citrin Deficiency ◽

Genetic Analyzer

Abstract Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25A13 gene, which encodes citrin protein expressed in the liver, have been identified as the genetic cause for NICCD. Case presentation Here, we report a 4-month-old female with clinical features including jaundice, hyperbilirubinemia, hyperlactacidemia, and abnormal liver function. The patient was diagnosed with NICCD by differential diagnosis using genetic analysis. Mutations in 60 jaundice-related genes were tested by using amplicon sequencing, which was performed on an Ion S5XL genetic analyzer. A compound heterozygous mutation in the SLC25A13 gene was identified, consisting of a known deletion SLC25A13:c.852_855delTATG and a novel splicing mutation SLC25A13:c.1841 + 3_1841 + 4delAA. Sanger sequencing for the proband and her parents was performed to validate the result and reveal the source of mutations. Conclusion A compound heterozygous mutation in the SLC25A13 gene was identified in a 4-month-old female patient with NICCD. Our data suggest that amplicon sequencing is a helpful tool for the differential diagnosis of inherited diseases with similar symptoms. Further studies of the mutation spectrum of neonatal jaundice in China are warranted.

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Polydactyly

Genetic Consultations in the Newborn ◽

10.1093/med/9780199990993.003.0032 ◽

2019 ◽

pp. 217-222

Author(s):

Robin D. Clark ◽

Cynthia J. Curry

Keyword(s):

Differential Diagnosis ◽

Sex Ratio ◽

Clinical Case ◽

Renal Cysts ◽

Recurrence Risk ◽

Background Information ◽

Case Presentation ◽

Common Causes ◽

Malformation Syndromes ◽

Hands And Feet

This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly, craniosynsostosis, GI anomalies, macrocephaly, mocrpcephaly, renal cysts) are described. The discussion on the differential diagnosis of polydactyly summarizes its common causes, including teratogenic agents, diabetic embryopathy, chromosome anomalies, and congenital malformation syndromes caused by Mendelian traits. It gives recommendations for evaluation and management. A clinical case presentation features an infant with tibial hypoplasia/aplasia with polydactyly (Werner mesomelic syndrome).

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First case report of dermatitis associated with Leporacarus gibbus in cat

BMC Veterinary Research ◽

10.1186/s12917-020-02681-0 ◽

2021 ◽

Vol 17 (1) ◽

Author(s):

Mirabela Oana Dumitrache ◽

Adriana Györke ◽

Gianluca D’Amico ◽

Viorica Mircean

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Clinical Case ◽

Clinical Signs ◽

Zoonotic Potential ◽

Case Presentation ◽

First Case ◽

Skin Conditions ◽

Pruritic Skin ◽

Microscopy Examination

Abstract Background Leporacarus gibbus is a highly specific acarian parasitizing in rabbits, with a proven zoonotic potential. While the majority of cases of L. gibbus infestation are asymptomatic, several cases of pruritic cutaneous condition in both laboratory and pet rabbits were reported. Up to date, L. gibbus has not been linked with clinical signs in any other species than rabbits and humans. Case presentation This case report described the clinical case of a 14-month-old cat with a dermatitis linked to L. gibbus. Mites specimens were collected by brushing, followed by light microscopy examination and species identification. To the best of our knowledge, this is the first report of L. gibbus-related dermatitis in cat. Conclusions L. gibbus infestation should be considered as a possible differential diagnosis of pruritic skin conditions in cat.

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Myiasis absent Wohlfahrtiimonas chitiniclastica bacteremia in a lung cancer patient: a case report

European Journal of Medical Research ◽

10.1186/s40001-021-00576-w ◽

2021 ◽

Vol 26 (1) ◽

Author(s):

Peter Dovjak ◽

Michael Kroißenbrunner ◽

Bernhard Iglseder

Keyword(s):

Lung Cancer ◽

Differential Diagnosis ◽

Lung Cancer Patient ◽

Chronic Wounds ◽

Lung Tumor ◽

Personal Hygiene ◽

Immunocompromised Patients ◽

Human Pathogen ◽

Case Presentation ◽

First Case

Abstract Background A gruesome infection was found in a woman with advanced lung tumor and associated malnutrition. Worldwide, bacteremia with Wohlfahrtiimonas chitiniclastica was only found in 13 cases yet. Case presentation This is the first case in Austria and the first case without infestation of maggots. Conclusions This germ is an emerging human pathogen not only in patients with poor personal hygiene, difficult social circumstances, alcohol dependence or chronic wounds. It must be included in the differential diagnosis of immunocompromised patients with pneumonia.

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Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

10.21203/rs.2.11655/v3 ◽

2019 ◽

Author(s):

jun liu ◽

Xu-Yun Hu ◽

Zhi-Peng Zhao ◽

Ruo-Lan Guo ◽

Jun Guo ◽

...

Keyword(s):

Donor Site ◽

Severe Neutropenia ◽

Recurrent Fever ◽

Neutrophilic Dermatosis ◽

Molecular Testing ◽

Compound Heterozygous ◽

Case Presentation ◽

Reactive Protein ◽

Pathogenic Variants ◽

Moderate Anemia

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Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

BMC Ophthalmology ◽

10.1186/s12886-021-01814-9 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Karen Bitton ◽

J.-L. Bacquet ◽

F. Amoroso ◽

S. Mrejen ◽

M. Paques ◽

...

Keyword(s):

Valsalva Maneuver ◽

Post Partum ◽

Pathologic Myopia ◽

Pathological Myopia ◽

Case Presentation ◽

Sudden Loss ◽

Corrected Visual Acuity ◽

First Case ◽

History Of ◽

Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

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Emphysematous pyelonephritis with air bubble in the inferior vena cava

African Journal of Urology ◽

10.1186/s12301-020-00081-2 ◽

2020 ◽

Vol 26 (1) ◽

Author(s):

Tiffany A. Perkins ◽

Alberic Rogman ◽

Murali K. Ankem

Keyword(s):

Septic Shock ◽

Inferior Vena Cava ◽

Inferior Vena ◽

Vena Cava ◽

Rare Presentation ◽

Emphysematous Pyelonephritis ◽

Case Presentation ◽

Air Bubble ◽

First Case ◽

The Right

Abstract Background Emphysematous pyelonephritis (EPN) with gas in the inferior vena cava (IVC) is a rare presentation and to our knowledge, this is the first case report in the urologic literature. Case presentation A 35-Year-old obese diabetic Hispanic female presented to the emergency room with a clinical picture of septic shock. Prompt computerized tomography scan revealed EPN with gas throughout the right renal parenchyma and extending to the right renal vein, IVC, and pulmonary artery. She died before surgical intervention Conclusion This case demonstrates that patients presenting with severe EPN have a high mortality risk and providers should acknowledge that septic shock, endogenous air emboli, or a combination of both could result in cardiovascular collapse and sudden death.

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Cerebral fat embolization with paroxysmal sympathetic hyperactivity syndrome and septic shock at high altitude: a case report and literature review

Chinese Neurosurgical Journal ◽

10.1186/s41016-021-00232-6 ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Min Li ◽

Gang Zhu ◽

Hao Guo ◽

Shun Nan Ge ◽

Guo Dong Gao ◽

...

Keyword(s):

Septic Shock ◽

Differential Diagnosis ◽

Case Report ◽

Literature Review ◽

High Altitude ◽

Fat Embolism ◽

Neurological Rehabilitation ◽

Case Presentation ◽

Sympathetic Hyperactivity ◽

Paroxysmal Sympathetic Hyperactivity

AbstractBackgroundCerebral fat embolism (CFE) syndrome at high altitude was rare complicated with paroxysmal sympathetic hyperactivity (PSH) syndrome and septic shock. It is a challenge to differential diagnosis and treatment at high altitude.Case presentationThis case presents a CFE with PSH and septic shock of a 23-year-old man occurred at high altitude of 3800 m above sea level, transferred by airplane successfully and cured in the department of neurosurgery, Xi’an Tangdu Hospital.ConclusionsIt is key that CFE with PSH can be rapid diagnosed and treatment bundles of septic shock should be initiated as soon as possible. Early neurological rehabilitation played an important role for good outcome.

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