scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

scholarly journals CROUZON SYNDROME – CLINICAL-EVOLUTIVE PARTICULARITIES. CASE REPORT

2016 ◽  
Vol 65 (1) ◽  
pp. 60-62
Author(s):  
Aniko Maria Manea ◽  
◽  
Nicoleta Kiritescu ◽  
Mihaela Dobre ◽  
Mariana Boia ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Crouzon Syndrome ◽  
Normal Intelligence ◽  
Premature Newborn ◽  
Rare Genetic Disorder ◽  
Crouzon's Syndrome

The Crouzon’s Syndrome is a rare genetic disorder, with an incidence between 1/25,000 to 1/100,000 newborn babies, transmitted autosomal dominant, characterized by facial dysmorphism and craniosynostosis, based on those characteristic can be diagnosed early. We present the case of a premature newborn female admitted to the Hospital Division of Neonatology “Louis Ţurcanu” with facial dysmorphism. The anamnestic investigation revealed that the patient’s mother and sister suffer from the same type of affection. The patients affected by Crouzon Syndrome have a normal lifespan, and 97% of them have a normal intelligence. The quality of their life is affected by aesthetic considerations and the severity of abnormalities they present.

scholarly journals Williams–Beuren-szindróma (Williams-szindróma)

2017 ◽  
Vol 158 (47) ◽  
pp. 1883-1888 ◽  
Author(s):  
Györgyi Miklós ◽  
György Fekete ◽  
Irén Haltrich ◽  
Miklós Tóth ◽  
Péter Reismann
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Intellectual Disability ◽  
Genetic Analysis ◽  
Ethnic Groups ◽  
Williams Syndrome ◽  
Social Behaviour ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Genetic Disorder

Abstract: Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients’ lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883–1888.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

scholarly journals BRITTLE BONE DISEASE - A RARE GENETIC DISORDER: A CASE REPORT

2018 ◽  
Vol 05 (08) ◽  
pp. 551-553
Author(s):  
Suresh Goyal ◽  
Pradeep Meena ◽  
Juhi Mehrotra ◽  
Sunny Malvia ◽  
Ravi Rawat ◽  
...  
Keyword(s):  
Case Report ◽  
Bone Disease ◽  
Genetic Disorder ◽  
Rare Genetic Disorder ◽  
Brittle Bone Disease

scholarly journals A CASE REPORT OF APLASIA CUTIS CONGENITA TYPE VI: BART'S SYNDROME

2021 ◽  
Vol 9 (12) ◽  
pp. 251-254
Author(s):  
Ahmed Mead ◽  
◽  
Yordanos Alem ◽  
Omar Adam Sheikh ◽  
Layla Ibrahim Hussein ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Genetic Disorder ◽  
Skin Layer ◽  
Topical Antibiotic ◽  
Aplasia Cutis Congenita ◽  
Rare Genetic Disorder ◽  
Skin Formation ◽  
Aplasia Cutis

Aplasia cutis congenita type VI (Barts syndrome), is a rare genetic disorder characterized by congenital localized absence of skin, formation of blisters (epidermolysisbullosa), and nail abnormalities. In this report, we present a rare case of aplasia cutis congenita type VI (Barts syndrome) in a newborn malebaby with the absence of a skin layer over the anterior right leg, slightly below the patella (kneecap) and around the ankle joint.On the second day, the affected areas developed blisters characterizing epidermolysisbullosa.Laboratory investigationswere all normal. The patients wound was managed conservatively with dressing and topical antibiotic ointments.

scholarly journals A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

2019 ◽  
Vol 12 ◽  
pp. 117954761983723
Author(s):  
Inder Pal Singh Kochar ◽  
Aashish Sethi ◽  
Ayesha Ahamad
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
East Asia ◽  
Short Stature ◽  
Genetic Disorder ◽  
Bone Fragility ◽  
South East Asia ◽  
Homozygous State ◽  
Rare Genetic Disorder ◽  
Novel Variant

Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.

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