scholarly journals AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE

2017 ◽  
Vol 16 (4) ◽  
pp. 326-333
Author(s):  
Olga A. Klochkova ◽  
Alexey L. Kurenkov ◽  
Natalya V. Zhurkova ◽  
Kirill V. Savostyanov ◽  
Ilya S. Zhanin ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive ◽  
Clinical Case

scholarly journals T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Kwo Wei David Ho ◽  
Nivedita U. Jerath
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive ◽  
Clinical Effect ◽  
Case Series ◽  
Pmp22 Gene ◽  
Loss Of Function ◽  
Review Of The Literature ◽  
Partial Loss ◽  
Charcot Marie Tooth ◽  
Electrophysiological Studies

The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant. These three unrelated cases were heterozygotes with the T118M variant of the PMP22 gene. All three cases presented with painful peripheral neuropathy and varying degrees of Charcot-Marie-Tooth exam features. Electrophysiological studies revealed polyneuropathy with axonal and demyelinating features in one case, but there were minimal electrophysiological changes in the other two cases. We propose that the T118M variant can cause painful peripheral neuropathy, which may be an underrecognized feature of this variant.

scholarly journals Multimorbidity in Pediatric Dermatology: Clinical Case

2020 ◽  
Vol 19 (6) ◽  
pp. 483-489
Author(s):  
Nikolay N. Murashkin ◽  
Alexander I. Materikin ◽  
Eduard T. Ambarchian ◽  
Roman V. Epishev ◽  
Leonid A. Opryatin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Molecular Genetic Testing ◽  
Pediatric Dermatology ◽  
Dominant Type ◽  
Recessive Type

Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents the clinical case of multimorbid condition in 10 years old patient who has nucleotide variants in CARD14 and EXPH5 genes. Mutations in CARD14 gene are typical for patients with type 2 psoriasis and pityriasis rubra pilaris (autosomal dominant type), while mutations in EXPH5 gene are typical for patients with non-specific epidermolysis bullosa (autosomal recessive type). Mutation in the TGM1 gene that is described in patients with congenital ichthyosis (autosomal recessive type), pathogenic mutations in KRT74 gene typical for ectodermal dysplasia, hypotrichosis and uncombable hair syndrome, and mutations in the KRT86 gene typical for monilethrix were also revealed. Medical history taking and histological examination as well as clinical data evaluating are crucial for correct diagnosis. They allow to understand the absence of the such manifestations in relatives and reveal various pathological processes in the epidermis. Molecular genetic testing with new generation sequencing (NGS) helps to finally establish the diagnosis and determine the further tactics for patient management.Conclusion. Multidisciplinary approach and use of high-technology methods of examination and treatment (such as molecular genetic testing and biological therapy) are required for final diagnosis in severe forms of chronic dermatosis resistant to treatment and for decision on correct tactics for the further management of such patients.

scholarly journals Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child

2021 ◽  
Vol 67 (5) ◽  
pp. 53-57
Author(s):  
N. Yu. Raygorodskaya ◽  
E. P. Novikova ◽  
A. N. Tyulpakov ◽  
M. A. Kareva ◽  
N. A. Nikolaeva ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Gender Reassignment ◽  
And Gender ◽  
21 Hydroxylase Deficiency

11β-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11β-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11β-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.

A clinical case of autosomal recessive cholesterol deficiency in a 29-month-old Holstein dairy cow homozygous for the causative gene

2019 ◽  
Vol 10 (5) ◽  
pp. 230-233
Author(s):  
S. Moriyama ◽  
H. Fujita ◽  
K. Kiuchi ◽  
K. Watanabe ◽  
N. Horiuchi ◽  
...  
Keyword(s):  
Dairy Cow ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Causative Gene ◽  
Holstein Dairy Cow

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: Novel mutations in SETX

Neurology ◽  
2006 ◽  
Vol 66 (10) ◽  
pp. 1580-1581 ◽  
Author(s):  
T. Asaka ◽  
H. Yokoji ◽  
J. Ito ◽  
K. Yamaguchi ◽  
A. Matsushima
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
Novel Mutations ◽  
Autosomal Recessive Ataxia

scholarly journals A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23

2000 ◽  
Vol 67 (3) ◽  
pp. 664-671 ◽  
Author(s):  
Tamara Rogers ◽  
David Chandler ◽  
Dora Angelicheva ◽  
P.K. Thomas ◽  
Bryan Youl ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive

scholarly journals Ocular Manifestations of Donnai Barrow Syndrome

2020 ◽  
Vol 2 (6) ◽  
Author(s):  
Ayoub Redouan ◽  
Hind Hamdani ◽  
Soukaina Amrani ◽  
Loubna El Maaloum ◽  
Bouchra Allali ◽  
...  
Keyword(s):  
Risk Factor ◽  
Retinal Detachment ◽  
Congenital Malformation ◽  
High Myopia ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Disease ◽  
Regular Monitoring ◽  
Ocular Manifestations

Donnai-Barrow syndrome is an autosomal recessive disease due to mutations in the LRP2 gene described by Donnai and Barrow in 1993. We report through this clinical case the various ophthalmologic and extraocular manifestations of Donnai Barrow syndrome which remains a very rare congenital malformation. High myopia is a risk factor for severe amblyopia and/or retinal detachment which requires a regular monitoring. The management of this disabling disease is multidisciplinary, involving the ophthalmologist, the otorhinolaryngologist, the pediatrician and the psychiatrist.

scholarly journals Familial mediterranean fever: clinical case

2019 ◽  
Vol 10 (1) ◽  
pp. 101-107
Author(s):  
Roman S. Saykovskiy ◽  
S. V. Sadovnikova
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
History Of Research ◽  
Mediterranean Origin ◽  
History Of ◽  
Mediterranean Fever ◽  
Methods Of Treatment

Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians). This is a hereditary disease with the autosomal recessive inheritance. Includes history of research, epidemiology FMF, variants of the disease course, methods of treatment. Clinical case description. A 61-year-old woman arrived complaining of weakness, fever, joint pain. First sign of disease showed at 20-years-old. When she came in: WBC 20.1–109/l, HGB 6.7 g/ml, ESR 60 mm/h, CRP 100 mg/l, CRP 202 μmol/L, UREA 19.7 mmol/L. Quantity of protein in one liter of urine 0.160 g. Ultrasonic signs of pyelectasis in both kidneys. The diagnosis was made on the basis of characteristic attacks of fever, polyarthritis, thoracalgia of Armenian nationality patient. The diagnosis was confirmed by the detection of amyloidosis and genetic data. Conclusion. Knowledge of the FMF clinical profile is important for differential diagnosis with many acute conditions, e.g. acute abdomen, myocardial infarction, pneumothorax, rheumatic diseases. It is important to remember that untimely diagnosis and improper treatment lead to the development of AA-amyloidosis (30–40%) with the outcome of renal failure.

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