Cargando…

A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review

A full-term female newborn was transferred to our neonatal intensive care unit (NICU) on day two of life for hypotonia. Physical examination was significant for overriding sutures, displaced small anterior fontanelle, axial hypotonia, extremity hypertonia, and slow deep tendon reflexes. She was also...

Descripción completa

Detalles Bibliográficos
Autores principales:	Spyridakis, Ana C, Cao, Ying, Litra, Florentina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392422/ https://www.ncbi.nlm.nih.gov/pubmed/36004024 http://dx.doi.org/10.7759/cureus.27098

Ejemplares similares

Correction: A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
por: Spyridakis, Ana C, et al.
Publicado: (2023)

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
por: Amin, Mutaz, et al.
Publicado: (2022)

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review
por: Dabaj, Ivana, et al.
Publicado: (2022)

Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review
por: Szeto, Chun Ho, et al.
Publicado: (2023)

Brain morphometry in Pontocerebellar Hypoplasia type 2
por: Ekert, Kaspar, et al.
Publicado: (2016)

Pontocerebellar hypoplasia type 2: a neuropathological update
por: Barth, Peter G., et al.
Publicado: (2007)

Natural course of pontocerebellar hypoplasia type 2A
por: Sánchez-Albisua, Iciar, et al.
Publicado: (2014)

Pontocerebellar Hypoplasia Diagnosed on Autopsy: A Case Report
por: Stoyanov, George S, et al.
Publicado: (2020)

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
por: Namavar, Yasmin, et al.
Publicado: (2011)

Clinico-radiological Profile of Children with Pontocerebellar Hypoplasia
por: Kasinathan, Ananthanarayanan, et al.
Publicado: (2020)

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
por: Appelhof, Bart, et al.
Publicado: (2020)

What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
por: van Dijk, Tessa, et al.
Publicado: (2018)

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia
por: Stoll, Marion, et al.
Publicado: (2016)

Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl
por: Jain, Puneet, et al.
Publicado: (2014)

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
por: Eggens, Veerle RC, et al.
Publicado: (2014)

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
por: Accogli, Andrea, et al.
Publicado: (2017)

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
por: Kapp, Meghan Elizabeth, et al.
Publicado: (2021)

No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
por: Ibrahim, Iman, et al.
Publicado: (2023)

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
por: Ucuncu, Ekin, et al.
Publicado: (2020)

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience
por: Bilge, Serap, et al.
Publicado: (2022)

Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?
por: Samanta, Debopam, et al.
Publicado: (2016)

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
por: Višnjar, Tanja, et al.
Publicado: (2022)

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
por: Marsh, Ashley P.L., et al.
Publicado: (2015)

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels
por: Müller, Juliane S, et al.
Publicado: (2020)

Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia
por: Schmidt, Casey A., et al.
Publicado: (2022)

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
por: Skopkova, Martina, et al.
Publicado: (2023)

A Rare Case of Lung Hypoplasia in a 1-Year-Old Girl
por: Rashed, Atef A, et al.
Publicado: (2022)

A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons
por: Morton, Derrick J., et al.
Publicado: (2020)

Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence
por: He, Tiantian, et al.
Publicado: (2023)

Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant
por: Krishnamurthy, Kritika, et al.
Publicado: (2019)

TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation
por: Pacheva, Iliyana Hristova, et al.
Publicado: (2018)

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing
por: Lardelli, Rea M., et al.
Publicado: (2017)

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
por: Wan, Jijun, et al.
Publicado: (2012)

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
por: Lühl, S., et al.
Publicado: (2016)

Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures
por: Wambach, Jennifer A., et al.
Publicado: (2018)

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
por: Ramadesikan, Swetha, et al.
Publicado: (2022)

A Neonate with a Diagnosis of Pontocerebellar Hypoplasia Type 6 Treated with Biotin and Developed Biotin Interference with Laboratory Thyroid Function Tests
por: Nagafuji, Motomichi, et al.
Publicado: (2021)

Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
por: Sekulovski, Samoil, et al.
Publicado: (2021)

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
por: Nicolle, Romain, et al.
Publicado: (2023)

Herpes Simplex Virus Type 1 (HSV-1) Meningoencephalitis in an Immunocompetent Young Adolescent Female
por: Garcia, Monica, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_d3c1h6u72095seabu69nmlmg9o