scholarly journals Esophageal Perforation in a Patient with Smith-Lemli-Opitz Syndrome

2020 ◽  
pp. 1-3
Author(s):  
Irim Salik ◽  
Irim Salik ◽  
Jasmeet Easwar
Keyword(s):  
Esophageal Perforation ◽  
Inborn Error ◽  
Congenital Heart ◽  
Cholesterol Metabolism ◽  
Clinical Manifestations ◽  
Facial Features ◽  
Difficult Airway Management ◽  
Esophageal Foreign Body ◽  
Severe Intellectual Disability ◽  
Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a rare syndrome caused by an inborn error of cholesterol metabolism secondary to a deficiency in the 7-dehydrocholesterol (7-DHC) reductase enzyme leading to hypocholesterolemia. A broad spectrum of clinical manifestations can have significant surgical and anaesthetic implications. Patients exhibit growth retardation, microcephaly, congenital heart disease and moderate to severe intellectual disability. Distinctive facial features including micrognathia, cleft palate and prominent incisors can lead to difficult airway management [1]. We present the case of a 16-year-old female with SLOS who developed an esophageal perforation following esophageal foreign body retrieval. Anaesthetic and surgical considerations in a patient with SLOS are discussed.

Smith-Lemli-Opitz Syndrome

2017 ◽  
Author(s):  
Ryan W. Lee
Keyword(s):  
Congenital Anomaly ◽  
Inborn Error ◽  
Cholesterol Synthesis ◽  
Plasma Cholesterol ◽  
Autism Spectrum ◽  
Behavioral Phenotype ◽  
Facial Features ◽  
Multiple Congenital Anomaly ◽  
Opitz Syndrome

Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

2018 ◽  
Vol 21 (1) ◽  
pp. 87-91 ◽  
Author(s):  
M Vaisvilas ◽  
V Dirse ◽  
B Aleksiuniene ◽  
I Tamuliene ◽  
L Cimbalistiene ◽  
...  
Keyword(s):  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Lymphoblastic Leukemia ◽  
Snp Array ◽  
Facial Dysmorphism ◽  
Severe Intellectual Disability ◽  
Leukemic Clone ◽  
Cell Growth And Differentiation ◽  
Facial Dysmorphia

Abstract Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years. A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia (pre-B ALL). Five genes, CDC45, CLTCL1, DGCR2, GP1BB and SEPT5, in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.

SMITH-LEMLI-OPITZ SYNDROME WITH CARDIOVASCULAR ABNORMALITY

PEDIATRICS ◽  
1971 ◽  
Vol 47 (5) ◽  
pp. 844-847
Author(s):  
Carl D. Robinson ◽  
Lowell W. Perry ◽  
Amnat Barlee ◽  
Gordon W. Mella
Keyword(s):  
Congenital Heart Disease ◽  
Mental Retardation ◽  
Heart Disease ◽  
Congenital Heart ◽  
Failure To Thrive ◽  
Neuromuscular System ◽  
Cardiac Lesion ◽  
Cardiovascular Abnormality ◽  
Opitz Syndrome ◽  
Unrelated Male

Smith, Lemli, and Opitz in 1964 described in three unrelated male children a syndrome consisting of failure to thrive, mental retardation, microcephaly, disorders of the neuromuscular system, typical facies with anteverted nares, micrognathia, broad maxillary ridge, and low set ears. Over 95% of males with the syndrome have hypospadias with or without cryptorchidism. Females have normal genitalia. Cutaneous syndactyly of the second and third toes commonly occurs. Chromosome karyotype is normal. The present case represents the fortieth to be reported. Of the 40 reported cases, eight or 20% had congenital heart disease which would appear to be emerging as a common feature of the syndrome. No specific cardiac lesion is predominantly seen.

scholarly journals The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

2020 ◽  
Vol 29 (13) ◽  
pp. 2109-2123 ◽  
Author(s):  
Jennifer L Sloan ◽  
Nathan P Achilly ◽  
Madeline L Arnold ◽  
Jerrel L Catlett ◽  
Trevor Blake ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Cholesterol Metabolism ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Methylmalonic Acidemia ◽  
Fluorescent Reporters ◽  
Early Embryonic Lethality ◽  
Full Complement ◽  
Human Disorder ◽  
Cobalamin Metabolism

Abstract Cobalamin C (cblC) deficiency, the most common inborn error of intracellular cobalamin metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and intracellular trafficking of vitamin B12. This recessive disorder is characterized by a failure to metabolize cobalamin into adenosyl- and methylcobalamin, which results in the biochemical perturbations of methylmalonic acidemia, hyperhomocysteinemia and hypomethioninemia caused by the impaired activity of the downstream enzymes, methylmalonyl-CoA mutase and methionine synthase. Cobalamin C deficiency can be accompanied by a wide spectrum of clinical manifestations, including progressive blindness, and, in mice, manifests with very early embryonic lethality. Because zebrafish harbor a full complement of cobalamin metabolic enzymes, we used genome editing to study the loss of mmachc function and to develop the first viable animal model of cblC deficiency. mmachc mutants survived the embryonic period but perished in early juvenile life. The mutants displayed the metabolic and clinical features of cblC deficiency including methylmalonic acidemia, severe growth retardation and lethality. Morphologic and metabolic parameters improved when the mutants were raised in water supplemented with small molecules used to treat patients, including hydroxocobalamin, methylcobalamin, methionine and betaine. Furthermore, mmachc mutants bred to express rod and/or cone fluorescent reporters, manifested a retinopathy and thin optic nerves (ON). Expression analysis using whole eye mRNA revealed the dysregulation of genes involved in phototransduction and cholesterol metabolism. Zebrafish with mmachc deficiency recapitulate the several of the phenotypic and biochemical features of the human disorder, including ocular pathology, and show a response to established treatments.

4313Evolocumab rapidly reverses impaired coronary endothelial function in six weeks in people living with HIV and in patients with dyslipidemia

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
T Leucker ◽  
G Gerstenblith ◽  
M Schar ◽  
T Brown ◽  
S Jones ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Endothelial Function ◽  
Highly Active Antiretroviral Therapy ◽  
Cholesterol Metabolism ◽  
Clinical Manifestations ◽  
People Living With Hiv ◽  
Isometric Handgrip ◽  
Coronary Endothelial Function ◽  
Pcsk9 Inhibition ◽  
Living With Hiv

Abstract Background/Introduction Proprotein convertase subtilisin/kexin type 9 (PCSK9) is well recognized for its importance in cholesterol metabolism. Elevated levels are associated with increased cardiovascular risk and inhibition with PCSK9 antibodies lowers cardiovascular events in patients with known coronary disease. PCSK9 levels are also elevated in people living with HIV (PLWH), and we previously reported that increased PCSK9 in PLWH is associated with impaired coronary endothelial function (CEF), a major driver for the development, progression, and clinical manifestations of coronary artery disease. Purpose Here we investigate the hypothesis that PCSK9 inhibition improves impaired CEF in PLWH and in patients with dyslipidemia (DL). Methods Cine 3T MRI was used to noninvasively measure CEF, assessed as the change in coronary cross-sectional area (CSA) from rest to isometric handgrip exercise (IHE), a known endothelial-dependent vasodilator. Eight HIV+ subjects on stable highly active antiretroviral therapy and with undetectable HIV RNA (mean age 53±9 yrs, LDLC 98±18 mg/dL, 38% on statins) and ten patients with dyslipidemia (DL) without HIV receiving evolocumab for clinical reasons (mean age 56±10 yrs, LDLC 130±28 mg/dL, 50% on statins) underwent MRI studies before and six weeks following the initiation of evolocumab 420 mg. MRI readers were blinded to group and timepoint. MRI data are presented as mean±SD for % change rest vs IHE. Results Prior to evolucumab, resting CSA in the two groups did not differ and IHE did not induce normal coronary vasodilation in either group; mean stress-induced CSA changes were −2.1±6.4% in HIV (p=0.27) and −0.6±4.1% in DL (p=0.46). Notably, CEF significantly improved following six weeks of evolocumab with IHE-induced CSA changes of 7.6±5.7% (p=0.006) and 5.0±3.6% (p=0.002) in the HIV and DL groups, respectively. The %-LDLC reduction with evolocumab was profound and comparable in the HIV and DL groups, 73±5% and 60±6% (p=0.19 HIV vs. DL). There was no significant correlation between the extents of LDLC reduction and of CEF improvement in either of these modest sized groups. Conclusion PCSK9 inhibition with evolocumab significantly improves abnormal coronary endothelial function after only six weeks in HIV+ people with normal LDLC and in HIV- people with DL. To our knowledge, these data represent the earliest (6 weeks) evidence for improvement in human coronary artery health by PCSK9 inhibition. Acknowledgement/Funding Amgen provided the PCSK9 monoclonal antibody (evolocumab) for this study.

scholarly journals Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

2020 ◽  
Vol 21 (12) ◽  
pp. 4564 ◽  
Author(s):  
Aleksandra Jezela-Stanek ◽  
Elżbieta Ciara ◽  
Karolina M. Stepien
Keyword(s):  
Transient Receptor Potential ◽  
Clinical Manifestations ◽  
Case Series ◽  
Receptor Potential ◽  
Transient Receptor Potential Channel ◽  
Facial Dysmorphism ◽  
Genetic Profile ◽  
Lysosomal Storage ◽  
Psychomotor Delay ◽  
Severe Intellectual Disability

Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include severe intellectual disability, speech deficit, progressive visual impairment leading to blindness, and myopathy. The severity of the condition may vary, including less severe psychomotor delay and/or ocular findings. As no striking recognizable facial dysmorphism, skeletal anomalies, organomegaly, or lysosomal enzyme abnormalities in serum are common features of MLIV, the clinical diagnosis may be significantly improved because of characteristic ophthalmological anomalies. This review aims to outline the pathophysiology and genetic defects of this condition with a focus on the genotype–phenotype correlation amongst cases published in the literature. The authors will present their own clinical observations and long-term outcomes in adult MLIV cases.

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

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