Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review
BackgroundAlpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointest...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-12-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1460658/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850063450865139712 |
|---|---|
| author | F. F. Comisi C. Soddu M. Corpino M. Marica R. Cacace T. Foiadelli S. Savasta |
| author_facet | F. F. Comisi C. Soddu M. Corpino M. Marica R. Cacace T. Foiadelli S. Savasta |
| author_sort | F. F. Comisi |
| collection | DOAJ |
| description | BackgroundAlpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.Case presentationWe report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported.ConclusionsConsidering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations. |
| format | Article |
| id | doaj-art-897ec7adda6e435aa0e532485900f2aa |
| institution | DOAJ |
| issn | 2296-2360 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-897ec7adda6e435aa0e532485900f2aa2025-08-20T02:49:36ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-12-011210.3389/fped.2024.14606581460658Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature reviewF. F. Comisi0C. Soddu1M. Corpino2M. Marica3R. Cacace4T. Foiadelli5S. Savasta6Pediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, University of Cagliari, Cagliari, ItalyPediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, Cagliari, ItalyPediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, Cagliari, ItalyPediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, Cagliari, ItalyPediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, University of Cagliari, Cagliari, ItalyPediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, ItalyPediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, University of Cagliari, Cagliari, ItalyBackgroundAlpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.Case presentationWe report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported.ConclusionsConsidering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations.https://www.frontiersin.org/articles/10.3389/fped.2024.1460658/fullgastrointestinal dysmotilityalpha thalassemiaalpha-thalassemia X-linked intellectual disabilityATR-X syndromepyridostigmineconstipation |
| spellingShingle | F. F. Comisi C. Soddu M. Corpino M. Marica R. Cacace T. Foiadelli S. Savasta Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review Frontiers in Pediatrics gastrointestinal dysmotility alpha thalassemia alpha-thalassemia X-linked intellectual disability ATR-X syndrome pyridostigmine constipation |
| title | Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review |
| title_full | Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review |
| title_fullStr | Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review |
| title_full_unstemmed | Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review |
| title_short | Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review |
| title_sort | pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in atr x syndrome case report and literature review |
| topic | gastrointestinal dysmotility alpha thalassemia alpha-thalassemia X-linked intellectual disability ATR-X syndrome pyridostigmine constipation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1460658/full |
| work_keys_str_mv | AT ffcomisi pyridostigmineasatherapeuticoptionforpediatricgastrointestinaldysmotilitiesinatrxsyndromecasereportandliteraturereview AT csoddu pyridostigmineasatherapeuticoptionforpediatricgastrointestinaldysmotilitiesinatrxsyndromecasereportandliteraturereview AT mcorpino pyridostigmineasatherapeuticoptionforpediatricgastrointestinaldysmotilitiesinatrxsyndromecasereportandliteraturereview AT mmarica pyridostigmineasatherapeuticoptionforpediatricgastrointestinaldysmotilitiesinatrxsyndromecasereportandliteraturereview AT rcacace pyridostigmineasatherapeuticoptionforpediatricgastrointestinaldysmotilitiesinatrxsyndromecasereportandliteraturereview AT tfoiadelli pyridostigmineasatherapeuticoptionforpediatricgastrointestinaldysmotilitiesinatrxsyndromecasereportandliteraturereview AT ssavasta pyridostigmineasatherapeuticoptionforpediatricgastrointestinaldysmotilitiesinatrxsyndromecasereportandliteraturereview |