Adult-onset isolated hemichorea revealing iatrogenic hypoparathyroidism and bilateral basal ganglia calcification

Desai, Karan; Walzade, Priyanka; Ravat, Sangeeta; Agarwal, Poojan

doi:10.4103/aian.aian_123_18

Cited by 6 publications

(4 citation statements)

References 14 publications

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“…In children with severe Sydenham's chorea, improvement can be achieved with the use of corticosteroids in combination with antibiotics to treat the rheumatic infection with beta‐hemolytic Streptococcus 25 . Chorea due to endocrine or metabolic disorders, such as hyperthyroidism, hypoglycemia, hypoparathyroidism, hypocalcemia, or hypomagnesemia, responds most favorably to treatment of the underlying condition 26,27 . A nondrug treatment for chorea is deep brain stimulation (DBS).…”

Section: Discussionmentioning

confidence: 99%

“… 25 Chorea due to endocrine or metabolic disorders, such as hyperthyroidism, hypoglycemia, hypoparathyroidism, hypocalcemia, or hypomagnesemia, responds most favorably to treatment of the underlying condition. 26 , 27 A nondrug treatment for chorea is deep brain stimulation (DBS). It has been successfully applied in patients with Huntington's chorea, 28 in patients with chorea due to acanthocytosis, 29 or in patients with chorea due to cerebral hypoxia.…”

Section: Discussionmentioning

confidence: 99%

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Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants

Finsterer¹,

Ghosh

2023

Clinical Case Reports

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Hypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome.The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloperidol and mitochondrial cocktails have proven beneficial in some of these cases. Here we present another patient with mitochondrial choreaballism who benefited significantly from symptomatic therapy. The patient is a 14-year-old male with a history of hypoacusis, ptosis, and focal tonic-clonic seizures of the upper/lower limbs on either side since childhood. Since this time he has also developed occasional, abnormal involuntary limb movements, choreaballism, facial grimacing, carpopedal spasms, and abnormal lip sensations. He was diagnosed with a non-syndromic mitochondrial disorder after detection of the variant m.15043G > A in MT-CYB.Seizures have been successfully treated with lamotrigine. Hypocalcemia was treated with intravenous calcium. For hypoparathyroidism calcitriol was given.Choreaballism was treated with haloperidol and tetrabenazine. In addition, he received coenzyme Q10, L-carnitine, thiamine, riboflavin, alpha-lipoic acid, biotin, vitamin-C, vitamin-E, and creatine-monohydrate. With this therapy, the choreaballism disappeared completely. This case shows that mitochondrial disorders can manifest with cognitive impairment, seizures, movement disorder, hypoacusis, endocrinopathy, cardiomyopathy, neuropathy, and myopathy, that choreaballism can be a phenotypic feature of multisystem mitochondrial disorders, and that choreaballism favorably responds to haloperidol, tetrabenazine, and possibly to a cocktail of antioxidants, cofactors, and vitamins.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants

Finsterer¹,

Ghosh

2023

Clinical Case Reports

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“…Hypoglycemia; hypo/hypernatremia; hypocalcemia; hypoparathyroidism (sometimes presenting as hemichorea and with calcification of the basal ganglia [26]; hyperthyroidism; acute intermittent porphyria; liver failure including chronic hepatocerebral degeneration; kidney failure; carbon monoxide; manganese; mercury; thallium; organophosphates, 3-NP [14]; vitamin B12 deficiency [28]; Wernicke encephalopathy [89]; 3-Hydroxy-sobutyryl-CoAHydrolase (HIBCH) deficiency (children, sometimes only paroxysmal chorea, e.g. during stress [99]), Tay-Sachs disease [59].…”

Section: Metabolic Endocrine and Toxic Causesmentioning

confidence: 99%

Differential diagnosis of chorea (guidelines of the German Neurological Society)

Saft,

Burgunder,

Dose

et al. 2023

Neurol. Res. Pract.

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Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. Summary or definition of the topic The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries. Recommendations Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27–35 CAG repeats) which may display expansions into the pathogenic range). Conclusions The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.

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“…87,88 There can also be a disconnection between the apparent symmetry of the calcification and asymmetry of clinical symptoms. 83,85,[87][88][89] This suggests that the imaging findings may be correlative rather than causative. The threshold for abnormal movements is potentially lowered by the basal ganglia mineralization, causing increased sensitivity to electrolyte disruption.…”

Section: Infectious/para-infectiousmentioning

confidence: 99%

Diagnostic Uncertainties: Chorea

Cincotta

Walker

2023

Semin Neurol

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Chorea is a hyperkinetic movement disorder with a multitude of potential etiologies, both acquired and inherited. Although the differential diagnosis for new-onset chorea is extensive, there are often clues in the history, exam, and basic testing that can help to narrow the options. Evaluation for treatable or reversible causes should take priority, as rapid diagnosis can lead to more favorable outcomes. While Huntington's disease is most common genetic cause of chorea, multiple phenocopies also exist and should be considered if Huntington gene testing is negative. The decision of what additional genetic testing to pursue should be based on both clinical and epidemiological factors. The following review provides an overview of the many possible etiologies as well as a practical approach for a patient presenting with new-onset chorea.

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Adult-onset isolated hemichorea revealing iatrogenic hypoparathyroidism and bilateral basal ganglia calcification

Cited by 6 publications

References 14 publications

Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants

Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants

Differential diagnosis of chorea (guidelines of the German Neurological Society)

Diagnostic Uncertainties: Chorea

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