Abstract
Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders. Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations. In this review, the neurological manifestations of genetic disorders of thyroid metabolism are outlined, with particular focus on Allan-Herndon-Dudley syndrome and benign hereditary chorea. We report in detail the clinical features, major neurological and neuropsychiatric manifestations, molecular genetic findings, disease mechanisms, and therapeutic strategies for these emerging genetic ‘brain-thyroid’ disorders.
Highlights
Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system
We report in detail the clinical features, major neurological and neuropsychiatric manifestations, molecular genetic findings, disease mechanisms, and therapeutic strategies for these emerging genetic ‘brain-thyroid’ disorders
The pathophysiological processes underpinning the neurological symptoms in hypothyroid and hyperthyroid states are likely to be multifactorial, and include (1) autoimmune mechanisms, for example in Hashimoto encephalopathy, Graves disease, and thyroid dysfunction related to myasthenia gravis; (2) ‘channelopathy’ as seen in thyrotoxic periodic paralysis; (3) adrenergic hypersensitivity associated with hyperthyroid tremor; and (4) ischaemia in vascular strokes in patients with hyperthyroid and atrial fibrillation.[4]
Summary
Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations. At the other end of the spectrum, patients with hyperthyroidism have been reported to have an even wider range of neurological symptoms, including anxiety, depression, psychosis, encephalopathy, marked tremor, Graves ophthalmopathy, muscle weakness, and even cerebrovascular events.[3,4] Less frequently, deterioration in cognitive function (affecting memory, attention, and planning), headaches, seizures, myasthenia, dysphonia, paroxysmal dyskinesias, and chorea[5,6] have been found in association with hyperthyroid states. Neurological/neuropsychiatric features Neurological features associated with AHDS are variable but evolve along a predictable trajectory throughout development, with profound hypotonia prominent in early infancy and gradual evolution of a spastic paraplegia
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