scholarly journals A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism

2018 ◽  
Vol 10 (1S) ◽  
pp. 62-65
Author(s):  
N. N. Savelieva ◽  
A. V. Yakunina ◽  
I. E. Poverennova
Keyword(s):  
Valproic Acid ◽  
Differential Diagnosis ◽  
Intellectual Disability ◽  
Effective Treatment ◽  
Female Patient ◽  
Clinical Case ◽  
De Novo ◽  
Chromosome 22 ◽  
Symptomatic Epilepsy ◽  
Bckdhb Gene

This paper describes a female patient aged 3 years 6 months with SYNGAP1-associated encephalopathy manifesting with symptomatic epilepsy, intellectual disability, and autism. There were difficulties in  differential diagnosis, since in addition to SYNGAP1 mutation (c2214_2217deltgag), heterozygous BCKDHB gene mutation  (chr6: 80910740G>a, rs3834233) and microduplication of a segment of chromosome 22 were found de novo. The features of the course and  treatment of epilepsy in SYNGAP1 are discussed. A combination of  valproic acid and oxcarbazepine was the most effective treatment for epilepsy.

scholarly journals Poorly Differentiated Chordoma: Case Review

2020 ◽  
Vol 3 (4) ◽  
pp. 86-93
Author(s):  
N. V. Kochergina ◽  
I. V. Boulytcheva ◽  
S. N. Prokhorov ◽  
A. B. Bludov ◽  
A. V. Fеdorova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Research Methods ◽  
Female Patient ◽  
Clinical Case ◽  
Immunohistochemical Study ◽  
Case Review ◽  
Immunohistochemical Examination ◽  
Imaging Methods ◽  
Wide Range ◽  
Poorly Differentiated

Purpose: Demonstrate a clinical case of poorly differentiated chordoma, confirmed using a wide range of research methods.Material and methods: A 63-year-old female patient with poorly differentiated chordoma who underwent immunohistochemical examination, MRI, CT and scintigraphy.Results: An immunohistochemical study confirmed the morphological affiliation of the tumor, supplemented by the data of imaging methods.Conclusion: The poorly differentiated type of chordoma has a specific immunohistochemical picture, however, differential diagnosis based on imaging methods is currently a difficult task.

scholarly journals Practical lesson «Secondary acute encephalopolyradiculoneuropathy»

2016 ◽  
pp. 30-34
Author(s):  
V. Sereda ◽  
N. Svyrydova ◽  
T. Parnikoza ◽  
N. Khanenko ◽  
T. Cherednichenko ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Effective Treatment ◽  
Clinical Case ◽  
Cranial Nerves ◽  
Pain Syndrome ◽  
Disease Symptoms ◽  
Mild Pain ◽  
Secondary Damage

Acute encephalopolyradiculoneuropathy - syndromic disease, which is mostly representing secondary damage of the nervous system. Among patients with verified herpetic neuroinfection, encephalopolyradiculoneuropathy type composes 20% cases. In 30-60% of cases infection, hypothermia, toxic lesions, vaccination, surgery precede this disease. Symptoms increase within few days till 1 month. In 25% of cases respiratory and bulbar muscles, cranial nerves are affected. The clinical case of secondary acute encephalopolyradiculoneuropathy with bulbar disorders and mild pain syndrome has a mixed genesis - infectious and allergic, arouses interest because of increasing frequency. The attention focused on this group of diseases, namely because of the difficulties in differential diagnosis and effective treatment.

Upper Extremity Anomalies

2019 ◽  
pp. 203-210
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Valproic Acid ◽  
Differential Diagnosis ◽  
Upper Extremity ◽  
Clinical Case ◽  
Background Information ◽  
Amniotic Band ◽  
Case Presentation ◽  
Vascular Disruption ◽  
Common Causes ◽  
Malformation Syndromes

This chapter reviews background information about the incidence, epidemiology, genetics, and other anomalies associated with common congenital anomalies of the upper extremity. The discussion reviews the differential diagnosis of transverse, longitudinal (amelia, radial, ulnar), intercalary (phocomelia), and central (split hand/foot) defects of the radius and ulna and combined upper and lower extremity defects. The chapter summarizes common causes of upper extremity anomalies, including amniotic band disruption sequence, teratogenic agents (misoprostol, thalidomide, valproic acid), vascular disruption, chromosome anomalies, and Mendelian congenital malformation syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with Holt–Oram syndrome.

scholarly journals Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Otto Lennartsson ◽  
Maria Lodefalk ◽  
Henrik Wehtje ◽  
Eva-Lena Stattin ◽  
Lars Sävendahl ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Clinical Case ◽  
Distal Femur ◽  
De Novo ◽  
Bone Age ◽  
Autism Spectrum ◽  
Tall Stature ◽  
Leg Length ◽  
Early Puberty

ObjectiveTo present a rare clinical case of a patient with Tatton-Brown-Rahman syndrome and the outcome of tall stature management with bilateral epiphysiodesis surgery at the distal femur and proximal ends of tibia and fibula.Study DesignClinical case report.ResultsThis is a 20-year-old female with a history of proportional tall stature, developmental psychomotor and language delay with autism spectrum behavior and distinctive facial features. At 12 years and 2 months of age she was in early puberty and 172.5 cm tall (+ 2.8 SDS) and growing approximately 2 SDS above midparental target height of 173 cm (+ 0.9 SDS). A bone age assessment predicted an adult height of 187.1 cm (+3.4 SDS). To prevent extreme tall stature, bilateral epiphysiodesis surgery was performed at the distal femur and proximal ends of tibia and fibula at the age of 12 years and 9 months. After the surgery her height increased by 12.6 cm to 187.4 cm of which approximately 10.9 cm occurred in the spine whereas leg length increased by only 1.7 cm resulting in a modest increase of sitting height index from 50% (-1 SDS) to 53% (+ 0.5 SDS). Genetic evaluation for tall stature and intellectual disability identified a de novo nonsense variant in the DNMT3A gene previously associated with Tatton-Brown-Rahman syndrome.ConclusionTatton-Brown-Rahman syndrome should be considered in children with extreme tall stature and intellectual disability. Percutaneous epiphysiodesis surgery to mitigate extreme tall stature may be considered.

scholarly journals A Rare, Recurrent,De Novo14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Almira Zada ◽  
Farmaditya E. P. Mundhofir ◽  
Rolph Pfundt ◽  
Nico Leijsten ◽  
Willy Nillesen ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Female Patient ◽  
De Novo ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
Facial Dysmorphism ◽  
Feeding Problems ◽  
Motor Delay ◽  
Genome Wide ◽  
Low Copy Repeats

We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subtelomeric MLPA analysis. Subsequent genome wide array analysis was performed on DNA from blood and revealed a 1.1 Mb deletion in 14q32.2q32.31 (chr14:100,388,343-101,506,214; hg19). Subsequent carrier testing in the parents by array showed that the deletion had occurredde novoin the patient and that her paternal 14q32 allele was deleted. The deleted region encompasses theDLK1/GTL2imprinted gene cluster which is consistent with the maternal UPD(14)-like phenotype of the patient. This rare, recurrent microdeletion was recently shown not to be mediated by low copy repeats, but by expanded TGG repeats, flanking the 14q32.2q32.21 deletion boundaries, a novel mechanism of recurrent genomic rearrangement. This is another example how the application of high resolution genome wide testing provides an accurate genetic diagnosis, thereby improving the care for patients and optimizing the counselling for family.

scholarly journals Functional hemispherotomy in the treatment of drug-resistant epilepsy: a clinical case

2019 ◽  
Vol 10 (4) ◽  
pp. 54-60
Author(s):  
A. A. Sufianov ◽  
R. T. Deniel ◽  
S. Zh. Stefanov ◽  
G. Z. Sufianova ◽  
A. S. Orlov ◽  
...  
Keyword(s):  
Early Childhood ◽  
Surgical Treatment ◽  
Female Patient ◽  
Clinical Case ◽  
Practical Interest ◽  
Epileptic Seizures ◽  
Drug Resistant ◽  
Symptomatic Epilepsy ◽  
Great Practical Interest ◽  
Drug Resistant Epilepsy

Though brain hemiatrophy is not among the leading causes of symptomatic epilepsy; the problem remains important and is of great practical interest to neurologists and neurosurgeons in Russia. In this article; we present an example of successful surgical treatment of Dyke-Davidoff-Masson syndrome. Here; functional hemispherotomy was performed in a 22 years old female patient; as a result; the occurrence and intensity of epileptic seizures decreased. This clinical case provides hope for this procedure to show even better results if performed in early childhood.

scholarly journals Patient with anemia (clinical case study)

2021 ◽  
Vol 2 (2) ◽  
pp. 28-31
Author(s):  
Leonid I. Dvoretsky ◽  
Keyword(s):  
Differential Diagnosis ◽  
Laboratory Test ◽  
Female Patient ◽  
Clinical Case ◽  
Clinical Problem ◽  
Test Results ◽  
Clinical Case Study ◽  
Laboratory Test Results ◽  
Future Direction

For physicians, every new case of anemia is a clinical problem with multiple unknowns. The case of female patient K. aged 40 with clinical and laboratory manifestations of anemia is reported. Pathogenetic variants of anemia have been studied; each variant characterized by specific laboratory test results determines future direction of diagnosis aimed at search for the cause of anemia (nosological diagnosis). Differential diagnosis has been developed.

scholarly journals Case report of Hashimoto encephalopathy in a 21-year-old female patient

2021 ◽  
Vol 15 (4) ◽  
pp. 99-104
Author(s):  
Tatiana E. Popova ◽  
Alexey A. Tappakhov ◽  
Tatiana K. Davydova ◽  
Tatiana G. Govorova ◽  
Alyona Yu. Petrova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Female Patient ◽  
Neurological Disorder ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Diagnosis And Treatment ◽  
High Efficacy ◽  
Timely Diagnosis ◽  
Hashimoto Encephalopathy

Hashimoto encephalopathy is a rarely diagnosed autoimmune neurological disorder, associated with the presence of antithyroid antibodies. The variability of clinical presentation, rarity of the disease, and absence of specific diagnostic markers make timely diagnosis very complicated. This article describes a clinical case of a female patient with Hashimoto encephalopathy and discusses diagnosis, differential diagnosis and treatment approaches. We emphasize the importance of establishing a timely diagnosis, considering high efficacy of targeted treatment.

scholarly journals Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report

2020 ◽  
Vol 11 (4) ◽  
pp. 232-238 ◽  
Author(s):  
Masashi Ogasawara ◽  
Eiji Nakagawa ◽  
Eri Takeshita ◽  
Kohei Hamanaka ◽  
Satoko Miyatake ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Female Patient ◽  
De Novo ◽  
Intractable Epilepsy ◽  
Good Choice ◽  
De Novo Mutation ◽  
Facial Dysmorphism ◽  
Mild Intellectual Disability ◽  
Female Patients ◽  
Male Patients

The <i>NEXMIF</i> (<i>KIAA2022</i>) gene is located in the X chromosome, and hemizygous mutations in <i>NEXMIF</i> cause X-linked intellectual disability in male patients. Female patients with heterozygous mutations in <i>NEXMIF</i> also show similar, but milder, intellectual disability. Most female patients demonstrate intractable epilepsy compared with male patients, and the treatment strategy for epilepsy is still uncertain. Thus far, 24 female patients with <i>NEXMIF</i> mutations have been reported. Of these 24 patients, 20 also have epilepsy. Until now, epilepsy has been controlled in only 2 of these female patients. We report a female patient with a heterozygous de novo mutation, NM_001008537.2:c.1123del (p.Glu375Argfs*21), in <i>NEXMIF</i>. The patient showed mild intellectual disability, facial dysmorphism, obesity, generalized tonic-clonic seizures, and nonconvulsive status epilepticus. Sodium valproate was effective but caused secondary amenorrhea. We successfully treated her epilepsy with clonazepam without side effects, indicating that clonazepam might be a good choice to treat epilepsy in patients with <i>NEXMIF</i> mutations.

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