Hepatic Adenomatosis in Aicardi Syndrome: A Clinical Report and Review of The Literature

Abstract Aicardi Syndrome is a rare X-linked dominant genetic disorder characterized by callosal agenesis, generalized seizures, chorioretinal lacunae and vertebral anomalies. Uncommon neoplasms have been previously observed in affected patients. We describe the case of a 19-year-old woman with Aicardi Syndrome developing multiple giant mass lesions in the liver. Histopathology revealed hepatic adenomas.

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Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

Journal of Gastrointestinal Cancer ◽

10.1007/s12029-021-00606-0 ◽

2021 ◽

Author(s):

Enrico Boninsegna ◽

Emilio Simonini ◽

Stefano Crosara ◽

Antonia Semeraro ◽

Stefano Colopi

Keyword(s):

Clinical Report ◽

Review Of The Literature ◽

Aicardi Syndrome ◽

Hepatic Adenomatosis

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Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

Molecular Cytogenetics ◽

10.1186/s13039-021-00546-1 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Qiao-Yan Shao ◽

Pei-Lin Wu ◽

Bi-Yun Lin ◽

Sen-Jing Chen ◽

Jian Liu ◽

...

Keyword(s):

Digeorge Syndrome ◽

Clinical Manifestations ◽

Large Deletion ◽

Terminal Deletion ◽

Facial Features ◽

Clinical Report ◽

Review Of The Literature ◽

Case Presentation ◽

Contiguous Gene ◽

Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

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TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

10.36106/gjra/4910349 ◽

2021 ◽

pp. 95-96

Author(s):

Fabricio Andrés Lasso Andrade ◽

Jorge Alejandro Cadena Arteaga ◽

Ángela Maria Fajardo Arteaga ◽

Viviana Lizeth Echeverry Morillo ◽

David Alfredo Acevedo Vargas ◽

...

Keyword(s):

Nervous System ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Causal Link ◽

Benign Tumors ◽

Review Of The Literature ◽

Dominant Inheritance ◽

Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

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Aicardi Syndrome in One Dizygotic Twin

PEDIATRICS ◽

10.1542/peds.76.3.450 ◽

1985 ◽

Vol 76 (3) ◽

pp. 450-453

Author(s):

William H. Constad ◽

Rudolph S. Wagner ◽

Anthony R. Caputo

Keyword(s):

Corpus Callosum ◽

Strong Evidence ◽

Infantile Spasms ◽

Unaffected Sibling ◽

Early Age ◽

Mutational Event ◽

Dizygotic Twin ◽

First Case ◽

Vertebral Anomalies ◽

Aicardi Syndrome

The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an χ-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an χ-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.

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Full-Mouth Rehabilitation for a Patient With Dentinogenesis Imperfecta: A Clinical Report

Journal of Oral Implantology ◽

10.1563/aaid-joi-d-12-00217 ◽

2014 ◽

Vol 40 (5) ◽

pp. 593-600 ◽

Cited By ~ 4

Author(s):

Sompop Bencharit ◽

Michael B. Border ◽

C. Russell Mack ◽

Warren C. Byrd ◽

John T. Wright

Keyword(s):

Dental Implants ◽

Computer Aided Design ◽

Genetic Disorder ◽

Asian Woman ◽

Clinical Report ◽

Dentinogenesis Imperfecta ◽

Posterior Teeth ◽

Anterior Teeth ◽

Computer Aided ◽

Full Mouth Rehabilitation

Dentinogenesis imperfecta (DI) is a genetic disorder affecting the structural integrity of the dentin that can result in weakened dentin. The affected teeth, especially posterior teeth, often need to be extracted due to severe wear or fracture. This frequently yields a loss of posterior occlusion and occlusal vertical dimension. Besides wear and fracture, anterior teeth often have an unesthetic appearance because of discoloration. Current treatments of choice, including composite bonding restorations and, more recently, all-ceramic restorations, are typically suggested to preserve the remaining teeth and tooth structure. However, there are a limited number of studies on dental implants in patients with DI. The effectiveness of dentin bonding and dental implants in patients with DI is not known. This clinical report describes a 32-year-old Asian woman with DI who underwent full-mouth rehabilitation. The posterior occlusion, mostly in the molar areas, was restored with dental implants and ceramometal restorations. The anterior teeth and premolars were restored with bonded lithium disilicate glass-ceramic pressed veneers and crowns made with computer-aided design/computer-aided manufacturing. This case demonstrates that restoring functional occlusion and esthetics for a patient with DI can be completed successfully using contemporary implant therapy and adhesive dentistry.

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Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Clinical Case Reports ◽

10.1002/ccr3.1783 ◽

2018 ◽

Vol 6 (11) ◽

pp. 2103-2110 ◽

Cited By ~ 3

Author(s):

Sofia Frisk ◽

Catherine Grandpeix-Guyodo ◽

Karin Popovic Silwerfeldt ◽

Helgi Thor Hjartarson ◽

Dimitris Chatzianastassiou ◽

...

Keyword(s):

Male Patient ◽

Clinical Report ◽

Review Of The Literature ◽

Goltz Syndrome

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Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature

World Neurosurgery ◽

10.1016/j.wneu.2020.06.230 ◽

2020 ◽

Vol 142 ◽

pp. 450-455 ◽

Cited By ~ 1

Author(s):

Joshua D. Bernstock ◽

Hannah E. Olsen ◽

David Segar ◽

Kevin Huang ◽

Ari D. Kappel ◽

...

Keyword(s):

Case Report ◽

Refractory Epilepsy ◽

Review Of The Literature ◽

Corpus Callosotomy ◽

Aicardi Syndrome

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Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature

Clinical Dysmorphology ◽

10.1097/00019605-200307000-00010 ◽

2003 ◽

Vol 12 (3) ◽

pp. 195-196 ◽

Cited By ~ 1

Author(s):

Anne M. Slavotinek ◽

Felicitas Lacbawan

Keyword(s):

Short Stature ◽

Interstitial Deletion ◽

Clinical Report ◽

Review Of The Literature ◽

Severe Short Stature ◽

Chromosome 13Q

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Hipocalcemia Crónica por Anticorpos Anti-Recetor do Cálcio

Acta Médica Portuguesa ◽

10.20344/amp.4408 ◽

2014 ◽

Vol 27 (3) ◽

pp. 399

Author(s):

Pedro Marques ◽

Rita Santos ◽

Branca Cavaco ◽

Valeriano Leite

Keyword(s):

Parathyroid Hormone ◽

Genetic Disorder ◽

Neck Surgery ◽

Urinary Calcium ◽

Clinical Report ◽

Calcium Sensing Receptor ◽

Casr Gene ◽

Calcium Sensing ◽

Calcium Phosphorus ◽

Receptor Antibodies

Introduction: Hypoparathyroidism is an entity associated with hypocalcemia, more frequently a consequence of neck surgery. An autoimmune etiology is rare and its diagnosis difficult to establish. Clinical report: 52 year-old woman, with irrelevant past medical history and no significant familial conditions, referred because of hypocalcemia and basal ganglia calcifications, detected in the course of investigation of myalgias. Besides hypocalcemia (4.6 mg/ dL), hyperphosphatemia (8.7 mg/dL), undetectable parathyroid hormone and low urinary calcium, phosphorus and magnesium were present. Molecular analysis of CaSR gene excluded germinal mutations. Anti-calcium sensing receptor antibodies (anti-CaSR) were present. The patient is asymptomatic and normocalcemic under treatment with calcium and vitamin D. Discussion: Although rare, hypocalcemia due to anti-CaSR hypoparathyroidism must be considered in the absence of previous neck surgery, hypocalcemic drugs, familial history or phenotype suggesting a genetic disorder. Low or undetectable parathyroid hormone excludes pseudohypoparathyroidism and anti-CaSR positivity establishes the diagnosis. Keywords: Hypocalcemia; Hypoparathyroidism; Autoantibodies; Receptors, Calcium-Sensing.

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