Table 1 Clinical features of the AHDS patient compared with a patient with different splicing mutation
From: A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report
Patients | The case in the current study | The case in the literature [8] | ||||
|---|---|---|---|---|---|---|
Before Triac treatment | After Triac treatment | |||||
Age | 6-month-old | 18-month-old | 24-month-old | 8-month-old | ||
Mutation | c.431-2 A > G | c.431-1G > C | ||||
Ethnicity | Chinese | Chinese | ||||
Gender | Male | Male | ||||
Age of diagnosis | 12-month-old | 8-month-old | ||||
Family history | No | Yes | ||||
Hypotonia | Yes | Yes | Yes | Yes | ||
Dystonia | Yes | Yes | Yes | Yes | ||
Head control | No | Improved | Improved | No | ||
Ability to sit | No | No | No | No | ||
Language development | No | No | No | No | ||
Cognitive dysfunction | Yes | Mildly improved | improved | Yes | ||
Hearing impairment | No | No | No | Not available | ||
Seizure | No | No | No | Not available | ||
Serum FT3 | 9.49 pg/ml | 8.12 pg/ml | 7.35pg/ml | 7.12 pg/ml | ||
(normal range) | (2.00-4.40) | (2.66–4.82) | (4.10–7.42) | (2.41–5.50) | ||
Serum FT4 | 0.49 pg/dl | 0.68 pg/dl | 0.07 pg/dl | 0.87 pg/dl | ||
(normal range) | (1.00-1.70) | (1.12–1.77) | (0.19–0.29) | (0.96–1.77) | ||
Serum TSH | 4.93 uIU/ml | 5.33 uIU/ml | 0.854 uIU/ml | 5.55 uIU/ml | ||
(normal range) | (0.27–4.20) | (0.38–7.31) | (0.38–7.31) | (0.70–5.97) | ||
Brain MRI | delayed myelination and mild cortical atrophy | delayed myelination and mild cortical atrophy | NA | delayed myelination and severe cortical atrophy | ||