Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identifiedGLI3 mutations

2003 ◽  
Vol 120A (1) ◽  
pp. 49-58 ◽  
Author(s):  
Philippe Debeer ◽  
H. Peeters ◽  
S. Driess ◽  
L. De Smet ◽  
K. Freese ◽  
...  
Keyword(s):  
Radiological Findings ◽  
Greig Cephalopolysyndactyly Syndrome ◽  
Sporadic Cases ◽  
Independent Families ◽  
Variable Phenotype

Clinical, hormonal, biochemical and genetic characteristics of 75 patients with hypophosphatemic rickets

2016 ◽  
Vol 62 (2) ◽  
pp. 31-36
Author(s):  
Kristina S. Kulikova ◽  
Anna A. Kolodkina ◽  
Evgeniy V. Vasiliev ◽  
Vasiliy M. Petrov ◽  
Elena N. Gorbach ◽  
...  
Keyword(s):  
Bioinformatic Analysis ◽  
Lower Limbs ◽  
Hypophosphatemic Rickets ◽  
Ion Torrent ◽  
Radiological Findings ◽  
Genetic Characteristics ◽  
Disease Mutations ◽  
Familial Form ◽  
Multiplex Amplification ◽  
Sporadic Cases

Aim — the present research was aimed at identifying the genetic causes for hr in patients, as well as evaluating the clinical, hormonal and biochemical characteristics of the disease in this group of patients.Material and methods. 75 patients (aged, of 3 months to 57 years; females, n=38; males, n=37) with clinical and radiological findings of rickets, low serum phosphate and low tubular reabsorption of phosphate were included. ‘rickets panel’ genes were sequenced using a custom Ion Ampliseq gene panel and PGM semiconductor sequencer (Ion Torrent). The panel included primers for multiplex amplification of 22 genes associated with genetic calcium metabolism dysfunctions. Bioinformatic analysis was performed using torrent suite (Ion Torrent) and ANNOVAR software packages.Results. Out of the 75 patients 36 were diagnosed with familial form of hr, and 39 probands had sporadic cases. Out clinical characteristics the most widespread symptoms of the disease included: lower limbs malformations since the patients started to walk (94.5%), hypotonia in the first 12 months of life (70.2%), multiple caries (58%). Mutations were identified in 100% of familial and 88,5% of sporadic cases. In 68 probands (90,5%) mutations were detected in PHEX, 40 of which were novel. For familial forms of the disease mutations were discovered in 100% cases, for sporadic — in 82% cases. One subject had both DMP1 and PHEX mutations. No mutations were detected in FGF23, SLC34A1, SLC34A3, SLC9A3R1, ENPP1, CLClCN5 and SLC2A2 genes.Conclusion. The study confirmed predominance of PHEX mutations among the patients with HR. The identification of causative agent is very important for antenatal diagnostics for familial forms of disease and enables well-timed conservative treatment.

scholarly journals Severe Eosinophilic Meningoencephalitis Secondary to Suspected Neuroangiostrongyliasis with a Good Clinical Outcome

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Fabian Chiong ◽  
Andrew R. Lloyd ◽  
Jeffrey J. Post
Keyword(s):  
Urinary Incontinence ◽  
Angiostrongylus Cantonensis ◽  
Radiological Findings ◽  
Good Clinical Outcome ◽  
Level Of Consciousness ◽  
Sporadic Cases ◽  
Full Neurological Recovery ◽  
Recovery Management ◽  
Eosinophilic Meningoencephalitis ◽  
Sydney Australia

Angiostrongylus cantonensishas caused sporadic cases of eosinophilic meningoencephalitis in Sydney, Australia. We describe a 36-year-old man who presented subacutely with fevers, reduced level of consciousness, confusion, ophthalmoplegia, and urinary incontinence. He was diagnosed with severe eosinophilic meningoencephalitis secondary to suspectedAngiostrongylus cantonensisbased on clinical, serological, and radiological findings. The patient was treated with albendazole and prednisolone with full neurological recovery. Management of neuroangiostrongyliasis with anthelminthic is controversial as it is thought to cause worsened outcomes through inciting an inflammatory response as a result of parasite killing. We managed to successfully treat our patient using albendazole and prednisolone and achieved a good outcome.

scholarly journals PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism

2020 ◽  
Author(s):  
Dulce Lima Cunha ◽  
Nicholas Owen ◽  
Vijay Tailor ◽  
Marta Corton ◽  
Maria Theodorou ◽  
...  
Keyword(s):  
Family Planning ◽  
Dna Binding ◽  
Genetic Counselling ◽  
Paired Domain ◽  
Missense Variants ◽  
Phenotypic Spectrum ◽  
Sporadic Cases ◽  
Foveal Hypoplasia ◽  
Independent Families ◽  
Allele Fraction

Abstract PAX6 is considered the master regulator of eye development, the majority of variants affecting this gene cause the pan-ocular developmental eye disorder aniridia. Although no genotype-phenotype correlations are clearly established, missense variants affecting the DNA-binding paired domain of PAX6 are usually associated with non-aniridia phenotypes like microphthalmia, coloboma or isolated foveal hypoplasia. In this study, we report two missense heterozygous variants in the paired domain of PAX6 resulting in isolated foveal hypoplasia with nystagmus in two independent families: c.112 C > G; p.(Arg38Gly) and c.214 G > C; p.(Gly72Arg) in exons 5 and 6, respectively. Furthermore, we provide evidence that paternal postzygotic mosaicism is the cause of inheritance, with clinically unaffected fathers and reduced affected allele fraction. This work contributes to increase the phenotypic spectrum caused by PAX6 variants, and to our knowledge, is the first report to describe the presence of postzygotic parental mosaicism causing isolated foveal hypoplasia with nystagmus. These results support the growing evidence that suggest an overestimation of sporadic cases with PAX6 variants, which has strong implications for both genetic counselling and family planning.

scholarly journals A RARE BRAINSTEM INFLAMMATORY SYNDROME, CLIPPERS, MYTH OR FACT. CASE REPORT WITH CRITICAL REVIEW

2021 ◽  
Vol 74 (1) ◽  
pp. 161-164
Author(s):  
Pavel A. Dyachenko ◽  
Raisa A. Hramova ◽  
Anatoly G. Dyachenko
Keyword(s):  
Case Report ◽  
Inflammatory Disease ◽  
Critical Review ◽  
Medical Literature ◽  
Diagnostic Assessment ◽  
Neurological Manifestations ◽  
Radiological Findings ◽  
Therapeutic Challenge ◽  
Sporadic Cases ◽  
Inflammatory Syndrome

A very rare inflammatory disease of CNS, CLIPPERS syndrome, was recently described and only a few sporadic cases are reported in the medical literature. Its etiology and pathogenesis are unknown, that together with the polymorphic and sometimes confounding neurological manifestations, and radiological findings represent a real diagnostic and therapeutic challenge for clinicians. Aim: To highlight the importance of clear and specific diagnostic assessment. Here we present the case of a 40-year-old male with a subacute lymphocytic midbrain inflammation accompanied by vasculitis. We discuss the symptoms, imaging and treatment of this lesion.

scholarly journals Joubert syndrome: large clinical variability and a unique neuroimaging aspect

2010 ◽  
Vol 68 (2) ◽  
pp. 273-276 ◽  
Author(s):  
Emília Katiane Embiruçu Leão ◽  
Marcília Martyn Lima ◽  
Otacílio de Oliveira Maia Júnior ◽  
Juliana Parizotto ◽  
Fernando Kok
Keyword(s):  
Mental Retardation ◽  
Cognitive Performance ◽  
Hepatic Fibrosis ◽  
Autosomal Recessive ◽  
Renal Cysts ◽  
Joubert Syndrome ◽  
Ocular Abnormalities ◽  
Molar Tooth Sign ◽  
Independent Families ◽  
Variable Phenotype

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.

Variable Phenotype Expression of a Maternally Inherited 16P13.11 Deletion in Twin Brothers with Epilepsy

2018 ◽  
Vol 49 (S 01) ◽  
pp. S1-S12
Author(s):  
M. Sallemi ◽  
S. Gambara ◽  
J. Galli ◽  
E. Fazzi
Keyword(s):  
Variable Phenotype ◽  
Phenotype Expression

Evaluation of radiological findings of complete gastric erosions

1987 ◽  
Vol 23 (3) ◽  
pp. 432
Author(s):  
H S Jung ◽  
S S Choi ◽  
Y S Lim ◽  
B C Kim ◽  
Y S Chung ◽  
...  
Keyword(s):  
Radiological Findings ◽  
Gastric Erosions
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