scholarly journals Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

2019 ◽  
Vol 1 (1) ◽  
pp. 01-03
Author(s):  
Aamir Mosawi
Keyword(s):  
Ct Scan ◽  
Noonan Syndrome ◽  
Brain Atrophy ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Psychomotor Retardation ◽  
Facial Dysmorphism ◽  
Autosomal Dominant Disorder ◽  
High Arched Palate ◽  
Craniofacial Dysmorphism

Background: Noonan syndrome is congenital syndrome that occur sporadically or inherited as an autosomal dominant disorder, and is associated with a wide spectrum of clinical manifestations that vary greatly in range and severity including facial dysmorphism with low set ears, bulbous nose, micrognathia, and thick upper eyelids, mental retardation, nuchal folding, a low posterior hairline, high arched palate and widely space nipples. Cerebral abnormalities have been rarely associated with this syndrome. The aim of this paper is report the rare occurrence of cerebral abnormalities in an Iraqi girl with Noonan syndrome. Methods: A ten month girl with dysmorphic features, growth retardation and psychomotor retardation was studied. Results: The girl had a sporadic form of Noonan with predominant cerebral manifestations and without congenital heart defect. She had growth and psychomotor retardation, hypotonia, craniofacial dysmorphism with low set ears, bulbous nose, thick upper eyelid, high arched palate, and micrognathia. She also had widely space nipples, nuchal folding and a low posterior hairline. CT-scan showed ventriculopathy with evidence of brain atrophy. Conclusion: This paper reported a very rare association of Noonan syndrome with CT-scan evidence of ventriculopathy and brain atrophy in an Iraqi girl.

scholarly journals Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1009
Author(s):  
Priolo Manuela ◽  
Radio Francesca Clementina ◽  
Pizzi Simone ◽  
Pintomalli Letizia ◽  
Pantaleoni Francesca ◽  
...  
Keyword(s):  
Transforming Growth Factor ◽  
Wide Spectrum ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Transforming Growth Factor Β ◽  
Bmp Signaling ◽  
Facial Dysmorphism ◽  
Speech Delay ◽  
Loss Of Function ◽  
Functional Link

Objective, the application of genomic sequencing in clinical practice has allowed us to appreciate the contribution of co-occurring pathogenic variants to complex and unclassified clinical phenotypes. Besides the clinical relevance, these findings have provided evidence of previously unrecognized functional links between genes in the context of developmental processes and physiology. Patients and Methods, a 5-year-old patient showing an unclassified phenotype characterized by developmental delay, speech delay, peculiar behavioral features, facial dysmorphism and severe cardiopathy was analyzed by trio-based whole exome sequencing (WES) analysis to identify the genomic events underlying the condition. Results, two co-occurring heterozygous truncating variants in CNOT3 and SMAD6 were identified. Heterozygous loss-of-function variants in CNOT3, encoding a subunit of the CCR4-NOT protein complex, have recently been reported to cause a syndromic condition known as intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF). Enrichment of rare/private variants in the SMAD6 gene, encoding a protein negatively controlling transforming growth factor β/bone morphogenetic protein (TGFB/BMP) signaling, has been described in association with a wide spectrum of congenital heart defects. We dissected the contribution of individual variants to the complex clinical manifestations and profiled a previously unappreciated set of facial features and signs characterizing IDDSADF. Conclusions, two concomitant truncating variants in CNOT3 and SMAD6 are the cause of the combination of features documented in the patient resulting in the unique multisystem neurodevelopmental condition. These findings provide evidence for a functional link between the CCR4-NOT complex and TGFB/BMP signaling in processes controlling cardiac development. Finally, the present revision provides evidence that IDDSADF is characterized by a distinctive facial gestalt.

scholarly journals Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

2021 ◽  
Vol 2 (3) ◽  
pp. 01-02
Author(s):  
Alvaro E. Galvis ◽  
Beatrice Batoczki ◽  
Iris S. Pecson ◽  
Evan Vidal ◽  
Craig T. Nakamura
Keyword(s):  
Genetic Testing ◽  
Pediatric Patient ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
History Of ◽  
Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

scholarly journals Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a TSC2 Variant in Renal Tissue

2021 ◽  
pp. 1-5
Author(s):  
Kristin M. Ikeda ◽  
Andrew A. House ◽  
Dervla M. Connaughton ◽  
Stephen E. Pautler ◽  
Victoria Mok Siu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Wide Spectrum ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Renal Tissue ◽  
Renal Angiomyolipoma ◽  
Autosomal Dominant Disorder ◽  
Multiple Organs ◽  
Prenatal Diagnostic

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that displays a wide spectrum of clinical manifestations, often affecting multiple organs including the kidneys, brain, lungs, and skin. A pathogenic mutation in either the TSC1 or TSC2 gene can be detected in almost 85% of the cases, with mosaicism accounting for about half of the remaining cases. We report a case of TSC diagnosed clinically, requesting genetic counselling regarding reproductive risks. No mutation was identified on initial testing of peripheral blood; however, mosaicism for a likely pathogenic frameshift variant in TSC2 was detected at a level of 15% in renal angiomyolipoma tissue. Despite widespread clinical manifestations of TCS, this variant was not detected in skin fibroblasts or saliva, raising the possibility this is an isolated somatic mutation in renal tissue with the underlying germline mutation not yet identified. This case highlights the difficulties when counselling patients with mosaicism regarding their reproductive risks and prenatal diagnostic options.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

Clinical and Radiographic Correlation (According to CT) in Patients with Degenerative Lumbar Spinal Stenosis

2017 ◽  
pp. 124-130 ◽  
Author(s):  
S. G. Mlyavykh ◽  
A. Y. Aleynik ◽  
A. E. Bokov ◽  
M. V. Rasteryaeva ◽  
M. A. Kutlaeva
Keyword(s):  
Ct Scan ◽  
Spinal Canal ◽  
Clinical Manifestations ◽  
Intervertebral Discs ◽  
Morphometric Parameters ◽  
Neurogenic Claudication ◽  
Clinical Group ◽  
Lumbar Stenosis ◽  
Degenerative Lumbar Spinal Stenosis ◽  
Lumbar Spinal

Сomputed tomography (CT) is widely used in the diagnosis of  degenerative pathology of the lumbar spine, but the relationship  between clinical manifestations of lumbar stenosis and its anatomical prerequisites has not been sufficiently studied to date.The objective: to determine the significance of the morphometric  parameters of lumbar stenosis according to CT scans and to  establish their relationship with the prevailing symptoms of the disease.Material and methods. Seventy-five consecutive patients with  clinically significant lumbar stenosis who underwent CT scan before  surgery were enrolled in this study. The average values of thirteen  different morphometric parameters were calculated at LIII–SI levels of the intervertebral discs and of the pedicels in the axial and sagittal views. The possibility of classification of clinical observations and the correlation of morphometric parameters with the clinical forms of lumbar stenosis were investigated using discriminant and logistic regression analysis. Results. CT scan with high probability allocates patients with  predominant symptoms of neurogenic claudication or bilateral  radiculopathy. The most significant morphometric predictors of this  clinical group are the depth of the lateral recesses and the cross-sectional area of the spinal canal.Conclusion. CT scan significantly expands the informative value of  magnetic resonance imaging and can be used in planning the  decompressive stage of the surgery intervention in patients with lumbar spinal canal stenosis.

Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Lupus ◽  
2021 ◽  
pp. 096120332110142
Author(s):  
Tamer A Gheita ◽  
Rasha Abdel Noor ◽  
Esam Abualfadl ◽  
Osama S Abousehly ◽  
Iman I El-Gazzar ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Population Based ◽  
Systemic Lupus ◽  
Cross Sectional

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

scholarly journals Imaging analysis of 13 rare cases of renal collecting (Bellini) duct carcinoma in northern China: a case series and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhehao Lyu ◽  
Lili Liu ◽  
Huimin Li ◽  
Haibo Wang ◽  
Qi Liu ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Ct Scan ◽  
Clinical Manifestations ◽  
Northern China ◽  
Renal Tumors ◽  
Imaging Features ◽  
Duct Carcinoma ◽  
Pet Ct ◽  
Bellini Duct Carcinoma ◽  
Mass Type

Abstract Background Collecting (Bellini) duct carcinoma (CDC) is a highly malignant and rare kidney tumor. We report our 12-year experience with CDC and the results of a retrospective analysis of patients and tumor characteristics, clinical manifestations, and imaging features by computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET)/CT. Methods Retrospective examination of tumors between January 2007 and December 2019 identified 13 cases of CDC from three medical centers in northern China. All 13 patients underwent CT scan, among which eight underwent dynamic enhanced CT scan, two underwent PET/CT scan, and one underwent magnetic resonance cholangiopancreatography (MRCP) examination. The lesions were divided into nephritis type and mass type according to the morphology of the tumors. Results The study group included ten men and three women with an average age of 64.23 ± 10.74 years. The clinical manifestations were gross hematuria, flank pain, and waist discomfort. The mean tumor size was 8.48 ± 2.48 cm. Of the 13 cases, six (46.2%) were cortical-medullary involved type and seven (53.8%) were cortex–medullary–pelvis involved type. Eleven (84.6%) cases were nephritis type and two (15.4%) were mass type. The lesions appeared solid or complex solid and cystic on CT and MRI. The parenchymal area of the tumors showed isodensity or slightly higher density on unenhanced CT scan in the 13 cases. PET/CT in two cases showed increased radioactivity intake. Evidence of intra-abdominal metastatic disease was present on CT in nine (69.2%) cases. Conclusions The imaging characteristics of CDC differ from those of other renal cell carcinomas. In renal tumors located in the junction zone of the renal cortex and medulla that show unclear borders, slight enhancement, and metastases in the early stage, a diagnosis of CDC needs to be considered. PET/CT provides crucial information for the diagnosis of CDC, as well as for designing treatment strategies including surgery.

scholarly journals Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1218
Author(s):  
Raffaella Brunetti-Pierri ◽  
Marianthi Karali ◽  
Francesco Testa ◽  
Gerarda Cappuccio ◽  
Maria Elena Onore ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Joubert Syndrome ◽  
Male Adult ◽  
Full Field ◽  
Pathogenic Variants ◽  
Disease Spectrum ◽  
Male Individual ◽  
The Central Nervous System

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in MKS1 that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in MKS1.

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