Decoding the Neurodevelopment and Seizure Puzzle : A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7
Copyright © 2024, Aldoseri et al..
Autosomal Dominant Mental Retardation Type 7 is a disorder caused by pathogenic variants in the DYRK1A gene. Clinical features associated with this gene mutation include focal dysmorphism, developmental delay, and epilepsy. In this report, we present a case of an 8-year-old boy with a DYRK1A gene mutation, whose clinical manifestations underscore the rarity and clinical challenges of this genetic condition. The patient is a known case of global developmental delay with intractable epilepsy on multiple anti-epileptic medications. Upon examination, the patient showed delayed developmental milestones, hypotonia with brisk deep tendon reflexes, as well as dysmorphic features in the form of microcephaly, deep-set eyes, prominent ears, and a short nose. MRI was done, and findings were suggestive of a DYRK1A gene mutation. The diagnosis was later confirmed by Whole Exome Sequencing (WES). Our report aims to contribute to the growing knowledge about DYRK1A mutations, facilitating a better understanding of the associated clinical features and implications for patient care.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:16 |
|---|---|
| Enthalten in: |
Cureus - 16(2024), 4 vom: 28. Apr., Seite e57460 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Aldoseri, Abdulrahman A [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Revised 04.04.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.7759/cureus.57460 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM370562216 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM370562216 | ||
| 003 | DE-627 | ||
| 005 | 20240404235516.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240404s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.7759/cureus.57460 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1365.xml |
| 035 | |a (DE-627)NLM370562216 | ||
| 035 | |a (NLM)38566780 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Aldoseri, Abdulrahman A |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Decoding the Neurodevelopment and Seizure Puzzle |b A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7 |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 04.04.2024 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Copyright © 2024, Aldoseri et al. | ||
| 520 | |a Autosomal Dominant Mental Retardation Type 7 is a disorder caused by pathogenic variants in the DYRK1A gene. Clinical features associated with this gene mutation include focal dysmorphism, developmental delay, and epilepsy. In this report, we present a case of an 8-year-old boy with a DYRK1A gene mutation, whose clinical manifestations underscore the rarity and clinical challenges of this genetic condition. The patient is a known case of global developmental delay with intractable epilepsy on multiple anti-epileptic medications. Upon examination, the patient showed delayed developmental milestones, hypotonia with brisk deep tendon reflexes, as well as dysmorphic features in the form of microcephaly, deep-set eyes, prominent ears, and a short nose. MRI was done, and findings were suggestive of a DYRK1A gene mutation. The diagnosis was later confirmed by Whole Exome Sequencing (WES). Our report aims to contribute to the growing knowledge about DYRK1A mutations, facilitating a better understanding of the associated clinical features and implications for patient care | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a chromosome | |
| 650 | 4 | |a dyrk1a | |
| 650 | 4 | |a epilepsy | |
| 650 | 4 | |a gene mutations | |
| 650 | 4 | |a neurodevelopment | |
| 650 | 4 | |a seizure | |
| 700 | 1 | |a Buhaza, Rashed N |e verfasserin |4 aut | |
| 700 | 1 | |a Jadah, Raafat Hammad Seroor |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Cureus |d 2013 |g 16(2024), 4 vom: 28. Apr., Seite e57460 |w (DE-627)NLM24118083X |x 2168-8184 |7 nnns |
| 773 | 1 | 8 | |g volume:16 |g year:2024 |g number:4 |g day:28 |g month:04 |g pages:e57460 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.7759/cureus.57460 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 16 |j 2024 |e 4 |b 28 |c 04 |h e57460 | ||