Progressive spasticity and developmental delay in an infant with a

Humans Muscle Spasticity / genetics Infant Developmental Disabilities / genetics Cerebral Palsy / genetics beta Catenin / genetics Male Codon, Nonsense Female Magnetic Resonance Imaging Genetic Testing
Cerebral palsy Developmental paediatrocs

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
13 Jun 2024
Historique:
medline: 14 6 2024
pubmed: 14 6 2024
entrez: 13 6 2024
Statut: epublish

Résumé

We present an infant referred to Developmental Paediatrics for delays, slow growth, hypotonia, esotropia and spasticity. Over the course of 2 months, the infant's exam progressed, demonstrating worsening spasticity and tonal changes in the setting of a normal brain MRI with acquired microcephaly. Genetic testing demonstrated a pathogenic

Identifiants

DOI: 10.1136/bcr-2024-260856 PMID: 38871641
pubmed: 38871641
pii: 17/6/e260856
doi: 10.1136/bcr-2024-260856
pii:
doi:

Substances chimiques

beta Catenin 0
CTNNB1 protein, human 0
Codon, Nonsense 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Meagan Freeman (M)

Pediatrics, Landstuhl Regional Medical Center, Landstuhl Kirchberg, Germany meagan.r.butsch@gmail.com.

Nina Fakhori (N)

U.S.Army Health Clinic Vilseck, Vilseck, Germany.

Danielle Monteil (D)

Naval Medical Center Portsmouth, Portsmouth, Virginia, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Progressive spasticity and developmental delay...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Manifestations neuromusculaires › Hypertonie musculaire › Spasticité musculaire › Progressive spasticity and developmental delay...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Progressive spasticity and developmental delay...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Incapacités de développement › Progressive spasticity and developmental delay...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Paralysie cérébrale › Progressive spasticity and developmental delay...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › bêta-Caténine › Progressive spasticity and developmental delay...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Codon non-sens › Progressive spasticity and developmental delay...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › Progressive spasticity and developmental delay...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Progressive spasticity and developmental delay...