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- Title
Novel SLC16A2 Gene Mutation: A Rare Case of Delayed Myelination with Dysthyroidism,v Allan–Herndon–Dudley Syndrome.
- Authors
Mahesan, Aakash; Kamila, Gautam; Choudhary, Puneet; Jauhari, Prashant; Chakrabarty, Biswaroop; Kumar, Atin; Gulati, Sheffali
- Abstract
This article discusses a rare case of delayed myelination with dysthyroidism, specifically Allan-Herndon-Dudley syndrome (AHDS). AHDS is an X-linked disorder that presents with developmental delay, feeding difficulties, seizures, and other symptoms due to a defect in the MCT8 transporter, which leads to central hypothyroidism and peripheral hyperthyroidism. The article describes the case of a 5½-year-old boy with intellectual disability, stiffness of limbs, and abnormal twisting movements. The boy had a mutation in the SLC16A2 gene, which is associated with AHDS. The article also discusses the differential diagnoses and treatment options for this condition.
- Subjects
GENETIC mutation; MYELINATION; SYNDROMES; FAMILY support; EVOKED response audiometry
- Publication
Neurology India, 2023, Vol 71, Issue 6, p1282
- ISSN
0028-3886
- Publication type
Article
- DOI
10.4103/0028-3886.391343