Developmental delay and assessment in an infant with PCWH syndrome: A case report
Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cells during early embryonic development and in the glial cells o...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
|
| Series: | Annals of Movement Disorders |
| Subjects: | |
| Online Access: | http://www.aomd.in/article.asp?issn=2590-3446;year=2023;volume=6;issue=2;spage=96;epage=99;aulast=Kumar |
| _version_ | 1827783430895566848 |
|---|---|
| author | Ashna Kumar Michelle do Rosario Shahyan Siddiqui Divyani Garg Anju Shukla Suvasini Sharma |
| author_facet | Ashna Kumar Michelle do Rosario Shahyan Siddiqui Divyani Garg Anju Shukla Suvasini Sharma |
| author_sort | Ashna Kumar |
| collection | DOAJ |
| description | Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cells during early embryonic development and in the glial cells of the peripheral and central nervous systems during late embryonic development, as well as in adults. Here, we describe our findings in a 9-month-old male infant presenting with failure to thrive, global developmental delay, seizures, hypotonia, heterochromia iridis, hypopigmented skin macules, pendular nystagmus, Hirschsprung’s disease, and hearing impairment. Nerve conduction studies were suggestive of sensorimotor demyelinating polyneuropathy. Brain magnetic resonance imaging showed diffuse hypomyelination. Targeted genetic testing revealed a novel stop-loss variant in the SOX10 gene (NM_006941.4). This case highlights the importance of clinical phenotyping that can aid in targeted genetic testing. |
| first_indexed | 2024-03-11T15:47:31Z |
| format | Article |
| id | doaj.art-d6f41654c4e2429d8b44f90d986c9f09 |
| institution | Directory Open Access Journal |
| issn | 2590-3446 2590-3454 |
| language | English |
| last_indexed | 2024-03-11T15:47:31Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Movement Disorders |
| spelling | doaj.art-d6f41654c4e2429d8b44f90d986c9f092023-10-26T05:45:36ZengWolters Kluwer Medknow PublicationsAnnals of Movement Disorders2590-34462590-34542023-01-0162969910.4103/aomd.aomd_34_22Developmental delay and assessment in an infant with PCWH syndrome: A case reportAshna KumarMichelle do RosarioShahyan SiddiquiDivyani GargAnju ShuklaSuvasini SharmaPeripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cells during early embryonic development and in the glial cells of the peripheral and central nervous systems during late embryonic development, as well as in adults. Here, we describe our findings in a 9-month-old male infant presenting with failure to thrive, global developmental delay, seizures, hypotonia, heterochromia iridis, hypopigmented skin macules, pendular nystagmus, Hirschsprung’s disease, and hearing impairment. Nerve conduction studies were suggestive of sensorimotor demyelinating polyneuropathy. Brain magnetic resonance imaging showed diffuse hypomyelination. Targeted genetic testing revealed a novel stop-loss variant in the SOX10 gene (NM_006941.4). This case highlights the importance of clinical phenotyping that can aid in targeted genetic testing.http://www.aomd.in/article.asp?issn=2590-3446;year=2023;volume=6;issue=2;spage=96;epage=99;aulast=Kumarhirschsprung’s diseasehypomyelinationpendular nystagmuswaardenburg syndrome |
| spellingShingle | Ashna Kumar Michelle do Rosario Shahyan Siddiqui Divyani Garg Anju Shukla Suvasini Sharma Developmental delay and assessment in an infant with PCWH syndrome: A case report Annals of Movement Disorders hirschsprung’s disease hypomyelination pendular nystagmus waardenburg syndrome |
| title | Developmental delay and assessment in an infant with PCWH syndrome: A case report |
| title_full | Developmental delay and assessment in an infant with PCWH syndrome: A case report |
| title_fullStr | Developmental delay and assessment in an infant with PCWH syndrome: A case report |
| title_full_unstemmed | Developmental delay and assessment in an infant with PCWH syndrome: A case report |
| title_short | Developmental delay and assessment in an infant with PCWH syndrome: A case report |
| title_sort | developmental delay and assessment in an infant with pcwh syndrome a case report |
| topic | hirschsprung’s disease hypomyelination pendular nystagmus waardenburg syndrome |
| url | http://www.aomd.in/article.asp?issn=2590-3446;year=2023;volume=6;issue=2;spage=96;epage=99;aulast=Kumar |
| work_keys_str_mv | AT ashnakumar developmentaldelayandassessmentinaninfantwithpcwhsyndromeacasereport AT michelledorosario developmentaldelayandassessmentinaninfantwithpcwhsyndromeacasereport AT shahyansiddiqui developmentaldelayandassessmentinaninfantwithpcwhsyndromeacasereport AT divyanigarg developmentaldelayandassessmentinaninfantwithpcwhsyndromeacasereport AT anjushukla developmentaldelayandassessmentinaninfantwithpcwhsyndromeacasereport AT suvasinisharma developmentaldelayandassessmentinaninfantwithpcwhsyndromeacasereport |