Síndrome de Seckel: relato de caso de uma rara condição genética / Seckel's Syndrome: case report of a rare genetic condition

AbstractSymphalangism is a rare genetic condition characterized by ankylosis of the proximal interphalangeal (PIP) or/and distal interphalangeal (DIP) joints. The patient presented with fused bilateral PIP joints and poor flexion, and an unsatisfactory range of motion (ROM) in the metacarpophalangeal (MP) and DIP joints. Concomitantly, multi-carpal coalition, proximal carpal malalignment, and ulnar styloid process abnormality were also observed in radiographs obtained at diagnosis. Rehabilitation training of the MP and DIP joints and a wrist supporter were recommended to achieve MP and DIP functional motion and restrict dramatic wrist motion. This is the first case report of symphalangism with multi-carpal coalition and abnormality of the ulnar styloid process to the best of our knowledge.

Pilomatrix Carcinoma in a Patient With Type 1 Myotonic Dystrophy: A Case Report

Plastic Surgery Case Studies ◽

10.1177/2513826x19898833 ◽

2020 ◽

Vol 6 ◽

pp. 2513826X1989883

Author(s):

Sarah L. Zhu ◽

David Choi ◽

Jenny Santos ◽

Bernard S. Jackson ◽

Matthew McRae

Keyword(s):

Case Report ◽

Myotonic Dystrophy ◽

Latissimus Dorsi ◽

Myocutaneous Flap ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Genetic Condition ◽

Latissimus Dorsi Myocutaneous Flap ◽

Pilomatrix Carcinoma

This is the first report of pilomatrix carcinoma in a man with C282Y myotonic dystrophy type 1. This pilomatrix carcinoma had originally presented as a rapidly growing recurrence of a histopathologically confirmed pilomatrixoma, removed a year prior. On examination, the fungating mass had measured 10 × 23 cm. A wide local resection with removal of suspicious lymph nodes was preformed, and the resulting defect was reconstructed with a latissimus dorsi myocutaneous flap and skin graft. Histologic investigation of the excised mass confirmed the diagnosis of pilomatrix carcinoma. This is the first reported case of pilomatrix carcinoma in a patient with a genetic condition that often presents with scalp pilomatrixomas. Potential implications of myotonic dystrophy on developing pilomatrix carcinoma are discussed.

XERODERMA PIGMENTOSUM: A CASE REPORT OF AN INTERESTING GENETIC CONDITION

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology ◽

10.1016/j.oooo.2020.04.356 ◽

2020 ◽

Vol 130 (3) ◽

pp. e185

Author(s):

MICHELE GASSEN KELLERMANN ◽

JOEL HENRIQUE ELLWANGER ◽

AMANDA OLGA MÜLLER ◽

HELOISA SOUZA PINTO ◽

LEO KRAETHER NETO

Keyword(s):

Case Report ◽

Xeroderma Pigmentosum ◽

Genetic Condition

Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review

Case Reports in Obstetrics and Gynecology ◽

10.1155/2017/6279460 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Michael Awadalla ◽

Manasi Patwardhan ◽

Adham Alsamsam ◽

Nashat Imran

Keyword(s):

Case Report ◽

Pregnant Woman ◽

Literature Review ◽

Autosomal Dominant ◽

Maximum Dose ◽

Physiological Effects ◽

Genetic Condition ◽

Water Reabsorption ◽

Liddle Syndrome ◽

In Pregnancy

Liddle syndrome is an autosomal dominant genetic condition that causes hypertension and hypokalemia due to a gain-of-function mutation in the SCNN1B or SCNN1G genes which code for the epithelial sodium channel in the kidney. This leads to increased sodium and water reabsorption causing hypertension. We report a case of a 27-year-old pregnant woman who was admitted for hypertension and hypokalemia and later diagnosed and treated for Liddle syndrome using amiloride. Maintaining a high suspicion of Liddle syndrome in pregnancy is essential in such cases to be able to adequately and effectively treat the hypertension. Due to physiological effects of pregnancy, the dose of amiloride may need to be increased as gestational age progresses up to a maximum dose of 30 mg orally per day.

Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

Journal of Cutaneous Medicine and Surgery ◽

10.2310/7750.2011.11017 ◽

2013 ◽

Vol 17 (3) ◽

pp. 212-218 ◽

Cited By ~ 5

Author(s):

Kayi Li ◽

Mary Ann Thomas ◽

Richard M. Haber

Keyword(s):

Case Report ◽

Noonan Syndrome ◽

Cutaneous Manifestation ◽

Review Of The Literature ◽

Phenotype Correlation ◽

Genetic Condition ◽

Genotype Phenotype Correlation

Background: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Objective: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. Methods: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. Results: To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. Conclusions: The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

C1-C2 Luxation in Patient with Down Syndrome

JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA ◽

10.22290/jbnc.v24i4.1455 ◽

2018 ◽

Vol 24 (4) ◽

pp. 316-321

Author(s):

Maurus Marques de Almeida Holanda ◽

Rayan Haquim Pinheiro Santos ◽

Gustavo De Moura Peixoto ◽

Normando Guedes Pereira Neto ◽

Luiz Ricardo Santiago Melo

Keyword(s):

Down Syndrome ◽

Case Report ◽

Cervical Spine ◽

Clinical Examination ◽

Chromosomal Abnormality ◽

Chromosome 21 ◽

Lateral Radiograph ◽

Atlantoaxial Instability ◽

Genetic Condition ◽

Clinical Consequences

Introduction: Down syndrome is caused by trisomy of chromosome 21, and it is the most common chromosomal abnormality in humans. This genetic condition is characterized by multiple skeletal abnormalities, including atlantoaxial instability that occurs in 9-31% of patients presenting clinical consequences in 1-3% of them. This study aims to report a case of atlantoaxial instability with clinical repercussions of quadriparesia. Case Report: A case of a 10-year-old boy, with Down syndrome, who could notget up for three months is reported. Clinical examination revealed quadriparesis. The lateral radiograph of the cervical spine showed a atlanto-odontoid distance of 6mm, confirming atlantoaxial instability.

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-019-2270-x ◽

2019 ◽

Vol 13 (1) ◽

Cited By ~ 1

Author(s):

Arun Swaminathan

Keyword(s):

Case Report ◽

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Caucasian Woman ◽

Spinocerebellar Ataxias ◽

Left Hemiparesis ◽

Genetic Condition ◽

Need To Evaluate ◽

Antiepileptic Medications ◽

Multiple Spells

Abstract Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities. Seizures are extremely uncommon in the spinocerebellar ataxias and have been reported only once before in a patient with spinocerebellar ataxia type 8. This case report highlights the need to evaluate spells in patients with a known neurodegenerative or genetic disease to exclude seizures, and it stresses the importance of timely diagnosis and therapy. Case presentation The patient was a 22-year-old Caucasian woman with known spinocerebellar ataxia 8 since age 10 years. She was admitted to our hospital with new-onset left hemiparesis and encephalopathy in addition to chronic occurrence of multiple spells of confusion and oromanual automatisms with postictal lethargy. Testing confirmed that she was having recurrent seizures with episodes of nonconvulsive status epilepticus. Urgent treatment with antiepileptic therapy was initiated; her seizures resolved shortly thereafter, and her mental status improved. Her left hemiparesis has improved; she remains seizure-free; and she has returned to her baseline antiepileptic medications following physical therapy. Conclusions Seizures have been reported extremely rarely in association with spinocerebellar ataxia 8, but they must be considered in the differential diagnosis of patients with spells of altered awareness, especially in those with a known neurodegenerative or genetic condition. Clinicoradiological correlation with symptoms can help expedite diagnosis and treatment. Expert consultation with epileptologists at the earliest signs can help establish the diagnosis quickly, minimize morbidity, and enhance recovery.

Cerebral aneurysms and accelerated atherosclerosis in Russell-Silver syndrome: a new subtype? Case report

Journal of Neurosurgery ◽

10.3171/2014.11.jns1410 ◽

2015 ◽

Vol 123 (2) ◽

pp. 467-469

Author(s):

Heinke Pülhorn ◽

Jonathan Pesic-Smith ◽

Peter Cowley ◽

Mary Murphy

Keyword(s):

Case Report ◽

Subarachnoid Hemorrhage ◽

Vascular Disease ◽

Peripheral Vascular Disease ◽

Intracranial Aneurysms ◽

Aneurysmal Subarachnoid Hemorrhage ◽

Cerebral Aneurysms ◽

Peripheral Vascular ◽

Genetic Condition ◽

Silver Syndrome

The authors describe the case of a 32-year-old woman known to have Russell-Silver syndrome who presented with repeated aneurysmal subarachnoid hemorrhage. Multiple intracranial aneurysms and advanced peripheral vascular disease were demonstrated. The authors postulate a link between these vascular features and the patient's genetic condition.

Russel — Silver syndrome a 7-month-old child: case report

Russian Journal of Woman and Child Health ◽

10.32364/2618-8430-2021-4-1-103-105 ◽

2021 ◽

Vol 4 (1) ◽

pp. 103-105

Author(s):

N.R. Khafizova ◽

◽

D.R. Merzlyakova ◽

Yu.F. Safina ◽

◽

...

Keyword(s):

Case Report ◽

Growth Retardation ◽

Intrauterine Growth Retardation ◽

Small Body ◽

Clinical Signs ◽

Hereditary Disease ◽

The Body ◽

Genetic Condition ◽

Intrauterine Growth ◽

Silver Syndrome

Russel – Silver syndrome (RSS) is a hereditary disease manifesting with intrauterine growth retardation, dwarfism, and other stigmas of embryopathy. We describe this rare genetic condition in a 7-month-old baby. The changes in physical condition and neurological status, clinical signs, laboratory tests, and management strategy are addressed. A genetic condition was suggested through an arrested development and stigmas of embryopathy only at the age of 7 months. At the age of 5 months, hydrocephaly was suspected due to asymmetrical proportions of the body (the relatively large size of head compared to a small body). However, neurosonography ruled out this diagnosis. Genetic testing for microsatellite loci on chromosome 7, which identified abnormal methylation of H19 gene verified the final diagnosis. KEYWORDS: Russel – Silver syndrome, child, intrauterine growth retardation, pseudohydrocephalus, dwarfism, genetic counseling. FOR CITATION: Khafizova N.R., Merzlyakova D.R., Safina Yu.F. Russel – Silver syndrome a 7-month-old child: case report. Russian Journal of Woman and Child Health. 2021;4(1):103–105. DOI: 10.32364/2618-8430-2021-4-1-103-105.

EP06.08: Antenatal diagnosis of MPPH‐1‐syndrome: a case report of the rare genetic condition with sonographic detection of fetal megalencephaly

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.21208 ◽

2019 ◽

Vol 54 (S1) ◽

pp. 263-263

Author(s):

J. Beyer ◽

R. Fröber ◽

I. Schreyer ◽

A. Weise ◽

E. Schleussner ◽

...

Keyword(s):

Case Report ◽

Antenatal Diagnosis ◽

Genetic Condition