Rett syndrome complicated by diabetes mellitus type 1
Rett syndrome (RS) is an X-linked neurodevelopmental disorder primarily affecting females. RS and diabetes mellitus (DM) type 1 are rare disorders with distinct etiologies. Although some cases of RS complicated by DM type 1 have been reported, the association between these distinct conditions is poo...
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Bioscientifica
2025-02-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
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| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0010.xml |
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| _version_ | 1823863651961929728 |
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| author | Yasutaka Kuniyoshi Satoru Takahashi |
| author_facet | Yasutaka Kuniyoshi Satoru Takahashi |
| author_sort | Yasutaka Kuniyoshi |
| collection | DOAJ |
| description | Rett syndrome (RS) is an X-linked neurodevelopmental disorder primarily affecting females. RS and diabetes mellitus (DM) type 1 are rare disorders with distinct etiologies. Although some cases of RS complicated by DM type 1 have been reported, the association between these distinct conditions is poorly understood and warrants further studies to elucidate the underlying mechanisms and inform clinical management. We report the case of a 10-year-old girl diagnosed with RS and DM type 1. The patient initially presented at 3 years of age with polydipsia, polyuria and decreased appetite over several weeks. Physical examination showed signs of dehydration, and laboratory evaluation revealed hyperglycemia, elevated HbA1c, glycosuria, ketonuria and low C-peptide levels. Anti-glutamic acid decarboxylase antibodies were positive, confirming autoimmune DM type 1. Fluid resuscitation and insulin therapy were initiated with good glycemic control on continuous subcutaneous insulin infusion. A review of her history revealed normal early developmental milestones, including the onset of stereotypical hand movements at 3 years, communication impairment and seizures at 4 years and a diagnosis of autism spectrum disorder. At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. Clinical features, including breathing abnormalities, bruxism, abnormal tone and inappropriate laughing, met the diagnostic criteria for RS. This is the reported first case of RS with a confirmed MECP2 mutation complicated by DM type 1. Our case report contributes to the increasing evidence supporting the potential association between RS and DM type 1. |
| format | Article |
| id | doaj-art-ff47cf699bd24daa80b1285b3f0ebd75 |
| institution | Kabale University |
| issn | 2052-0573 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj-art-ff47cf699bd24daa80b1285b3f0ebd752025-02-09T11:58:08ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732025-02-012025110.1530/EDM-24-00101Rett syndrome complicated by diabetes mellitus type 1Yasutaka Kuniyoshi0Satoru Takahashi1Department of Paediatrics, Tsugaruhoken Medical COOP Kensei Hospital, Hirosaki, JapanDepartment of Paediatrics, Asahikawa Medical University, Asahikawa, JapanRett syndrome (RS) is an X-linked neurodevelopmental disorder primarily affecting females. RS and diabetes mellitus (DM) type 1 are rare disorders with distinct etiologies. Although some cases of RS complicated by DM type 1 have been reported, the association between these distinct conditions is poorly understood and warrants further studies to elucidate the underlying mechanisms and inform clinical management. We report the case of a 10-year-old girl diagnosed with RS and DM type 1. The patient initially presented at 3 years of age with polydipsia, polyuria and decreased appetite over several weeks. Physical examination showed signs of dehydration, and laboratory evaluation revealed hyperglycemia, elevated HbA1c, glycosuria, ketonuria and low C-peptide levels. Anti-glutamic acid decarboxylase antibodies were positive, confirming autoimmune DM type 1. Fluid resuscitation and insulin therapy were initiated with good glycemic control on continuous subcutaneous insulin infusion. A review of her history revealed normal early developmental milestones, including the onset of stereotypical hand movements at 3 years, communication impairment and seizures at 4 years and a diagnosis of autism spectrum disorder. At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. Clinical features, including breathing abnormalities, bruxism, abnormal tone and inappropriate laughing, met the diagnostic criteria for RS. This is the reported first case of RS with a confirmed MECP2 mutation complicated by DM type 1. Our case report contributes to the increasing evidence supporting the potential association between RS and DM type 1.https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0010.xmldiabetespaediatric endocrinology |
| spellingShingle | Yasutaka Kuniyoshi Satoru Takahashi Rett syndrome complicated by diabetes mellitus type 1 Endocrinology, Diabetes & Metabolism Case Reports diabetes paediatric endocrinology |
| title | Rett syndrome complicated by diabetes mellitus type 1 |
| title_full | Rett syndrome complicated by diabetes mellitus type 1 |
| title_fullStr | Rett syndrome complicated by diabetes mellitus type 1 |
| title_full_unstemmed | Rett syndrome complicated by diabetes mellitus type 1 |
| title_short | Rett syndrome complicated by diabetes mellitus type 1 |
| title_sort | rett syndrome complicated by diabetes mellitus type 1 |
| topic | diabetes paediatric endocrinology |
| url | https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0010.xml |
| work_keys_str_mv | AT yasutakakuniyoshi rettsyndromecomplicatedbydiabetesmellitustype1 AT satorutakahashi rettsyndromecomplicatedbydiabetesmellitustype1 |