Unknown presentation of a rare genetic disorder: Monogenic diabetes in young type 4 presenting with hepatic cysts and procoagulant state

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

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Anesthesia in Carvajal syndrome; the first case report

Anaesthesia, Pain & Intensive Care ◽

10.35975/apic.v24i1.1233 ◽

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.

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Featural versus configural face processing in a rare genetic disorder: Williams syndrome

Journal of Intellectual Disability Research ◽

10.1111/j.1365-2788.2011.01426.x ◽

2011 ◽

Vol 55 (11) ◽

pp. 1034-1042 ◽

Cited By ~ 9

Author(s):

L. Isaac ◽

A. Lincoln

Keyword(s):

Williams Syndrome ◽

Face Processing ◽

Genetic Disorder ◽

Rare Genetic Disorder ◽

Configural Face Processing

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Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy

VASA ◽

10.1024/0301-1526.37.4.383 ◽

2008 ◽

Vol 37 (4) ◽

pp. 383-385 ◽

Cited By ~ 2

Author(s):

Katsinelos ◽

Vasiliadis ◽

Soufleris ◽

Chatzimavroudis ◽

Zavos ◽

...

Keyword(s):

Arterial Hypertension ◽

Capsule Endoscopy ◽

Intestinal Ischemia ◽

Genetic Disorder ◽

Rare Genetic Disorder ◽

Unusual Condition ◽

Congenital Afibrinogenemia ◽

Abdominal Arteries ◽

First Time

Congenital afibrinogenemia is a rare genetic disorder characterized by the complete absence of functional fibrinogen. We report a 22-year-old female who developed nephrogenic arterial hypertension and intestinal ischemia due to congenital afibrinogenemia-associated angiopathy of large abdominal arteries. We describe, for the first time, the capsule findings and discuss the pathophysiology of this unusual condition.

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

Russian Journal of Child Neurology ◽

10.17650/2073-8803-2019-14-2-42-48 ◽

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.

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