Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome
Aicardi-Goutières Syndrome (AGS) is a rare genetic disorder with autosomal recessive inheritance. AGS is characterised by an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. Involuntary muscular spasms between the ages of four months an...
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JCDR Research and Publications Private Limited
2023-01-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://www.jcdr.net/articles/PDF/17383/58913_CE(AD)_F[SK]_PF1(PS_KM)_Redo_PN(SHU).pdf |
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| author | Pradnya Dileep Pathak Preetam P Shah Laxmi S Lakade Maya U Shinde |
| author_facet | Pradnya Dileep Pathak Preetam P Shah Laxmi S Lakade Maya U Shinde |
| author_sort | Pradnya Dileep Pathak |
| collection | DOAJ |
| description | Aicardi-Goutières Syndrome (AGS) is a rare genetic disorder with autosomal recessive inheritance. AGS is characterised by an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. Involuntary muscular spasms between the ages of four months and four years are the typical starting point for Aicardi syndrome. Hepatosplenomegaly, increased liver enzymes, thrombocytopenia, and abnormal neurologic signs in a subgroup of AGS children at birth strongly imply congenital infection. Agenesis of the corpus callosum, chorioretinal lacunae, and seizures are all symptoms of Aicardi syndrome. They frequently exhibit the subacute onset of a severe encephalopathy that is characterised by intense irritability, sporadic sterile pyrexias, loss of abilities, and slowed head growth. In 40% of cases, skin lesions like chilblains can appear on the fingers, toes, and ears. This disease can be diagnosed with Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans with the appearance of calcification of the basal ganglia. The associated behavioral challenges with syndromic patients demand pharmacological management of oral rehabilitation. The literature is scarce regarding the oral manifestations of this syndrome. Hence, authors present the successful full-mouth rehabilitation of severe Early Childhood Caries (ECC) in a 3-year-old child with AGS under General Anaesthesia (GA). |
| first_indexed | 2024-04-10T17:43:03Z |
| format | Article |
| id | doaj.art-40bb49cf160c461ba4824511bba63736 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-04-10T17:43:03Z |
| publishDate | 2023-01-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-40bb49cf160c461ba4824511bba637362023-02-03T08:26:22ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2023-01-01171ZD19ZD2110.7860/JCDR/2023/58913.17383Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare SyndromePradnya Dileep Pathak0Preetam P Shah1Laxmi S Lakade2Maya U Shinde3Postgraduate Student, Department of Paediatric and Preventive Dentistry, Bharati Vidyapeeth (Deemed To Be University) Dental College and Hospital, Pune, Maharashtra, India.Professor, Department of Paediatric and Preventive Dentistry, Bharati Vidyapeeth (Deemed To Be University) Dental College and Hospital, Pune, Maharashtra, India.Associate Professor, Department of Paediatric and Preventive Dentistry, Bharati Vidyapeeth (Deemed To Be University) Dental College and Hospital, Pune, Maharashtra, India.Postgraduate Student, Department of Paediatric and Preventive Dentistry, Bharati Vidyapeeth (Deemed To Be University) Dental College and Hospital, Pune, Maharashtra, India.Aicardi-Goutières Syndrome (AGS) is a rare genetic disorder with autosomal recessive inheritance. AGS is characterised by an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. Involuntary muscular spasms between the ages of four months and four years are the typical starting point for Aicardi syndrome. Hepatosplenomegaly, increased liver enzymes, thrombocytopenia, and abnormal neurologic signs in a subgroup of AGS children at birth strongly imply congenital infection. Agenesis of the corpus callosum, chorioretinal lacunae, and seizures are all symptoms of Aicardi syndrome. They frequently exhibit the subacute onset of a severe encephalopathy that is characterised by intense irritability, sporadic sterile pyrexias, loss of abilities, and slowed head growth. In 40% of cases, skin lesions like chilblains can appear on the fingers, toes, and ears. This disease can be diagnosed with Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans with the appearance of calcification of the basal ganglia. The associated behavioral challenges with syndromic patients demand pharmacological management of oral rehabilitation. The literature is scarce regarding the oral manifestations of this syndrome. Hence, authors present the successful full-mouth rehabilitation of severe Early Childhood Caries (ECC) in a 3-year-old child with AGS under General Anaesthesia (GA).https://www.jcdr.net/articles/PDF/17383/58913_CE(AD)_F[SK]_PF1(PS_KM)_Redo_PN(SHU).pdfbehaviour managementcongenital viral infectionearly childhood cariesmimic of congenital infectionoral manifestations |
| spellingShingle | Pradnya Dileep Pathak Preetam P Shah Laxmi S Lakade Maya U Shinde Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome Journal of Clinical and Diagnostic Research behaviour management congenital viral infection early childhood caries mimic of congenital infection oral manifestations |
| title | Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome |
| title_full | Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome |
| title_fullStr | Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome |
| title_full_unstemmed | Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome |
| title_short | Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome |
| title_sort | full mouth rehabilitation of a child with aicardia goutieres a rare syndrome |
| topic | behaviour management congenital viral infection early childhood caries mimic of congenital infection oral manifestations |
| url | https://www.jcdr.net/articles/PDF/17383/58913_CE(AD)_F[SK]_PF1(PS_KM)_Redo_PN(SHU).pdf |
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