University of Groningen
Moving forward in childhood-onset movement disorders
Eggink, Hendriekje
DOI:
10.33612/diss.94395271
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Publication date:
2019
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Eggink, H. (2019). Moving forward in childhood-onset movement disorders: a multidisciplinary approach to
diagnosis and care. Rijksuniversiteit Groningen. https://doi.org/10.33612/diss.94395271
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PATIENCE IS THE KEY: CONTRACEPTIVE
INDUCED CHOREA IN A GIRL WITH DOWN
SYNDROME
HENDRIEKJE EGGINK
ANOUK KUIPER
CATHÉRINE C.S. DELNOOZ
DEBORAH A. SIVAL
TOM J. DE KONING
MARINA A.J. TIJSSEN
38
CHAPTER 2a
ABSTRACT
Background: Isolated (sub)acute chorea in young patients is a relatively rare movement disorder with a broad differential diagnosis, including drug-induced, post-infectious, auto-immunological and vascular etiologies.
Case presentation: We describe an adolescent girl with Down’s syndrome presenting with chorea due to oral contraceptive usage. After discontinuation of the oral contracep-tive it took several months before the symptoms disappeared. Although generally well recognised, it is important to realise this delayed effect. Rejecting the diagnosis too soon may lead to unnecessary treatment for other possible underlying etiologies, especially in patients with Down Syndrome, known to be vulnerable for autoimmune disorders. Conclusion: We plead for discontinuation for at least three months before exclusion of oral contraceptives as cause of chorea.
39 Contraceptive induced chorea in a girl with Down Syndrome
INTRODUCTION
Isolated chorea is a relatively rare movement disorder in young patients, presenting with continuous, non-patterned, involuntary movements which are unpredictable in rate and direction.[1] In addition to post-streptococcal, autoimmune, encephalopathic and vascular etiologies, drug-induced chorea (e.g. dopamine agonists, neuroleptics, anticonvulsants) form an important, reversible group.[1,2] In adolescents, the use of oral contraceptives (OCP) accounts for another possible cause of chorea.[3,4] Although OCP-induced chorea is generally well-recognized, it may take several months for the symptoms to disappear after cessation. To illustrate this, we report on an adolescent girl with Down Syndrome.
CLINICAL PRESENTATION
A 19-year-old adolescent with Down Syndrome was referred to our tertiary outpatient clinic with subacute generalized chorea (see video 1)*. Her medical history revealed recurrent throat and ear infections and a negative family history for involuntary movements. The chorea had started acutely two years earlier, initially in her left arm and leg with gener-alization to the other side of her body in the subsequent six months. The severity of the symptoms fluctuated in the first year and remained stable after that. Due to the involuntary movements, she had marked difficulties with fine motor skills, such as writing and using cutlery. In addition, her parents reported severe fatigue, loss of appetite and behavioral changes in the form of increased irritability.
Symptoms manifested three months after initiation of OCP for irregular menstruations. Cessation of OCP for one month had not led to improvement of the symptoms in the past. Therefore, a broad range of diagnostic tests was conducted. Throat cultures showed no abnormalities and laboratory tests detected no raised anti-streptolysin-O titre or abnormal auto-antibodies (thyroxine-binding globulin, antihuman thyroglobulin, thyrotropin binding inhibiting immunoglobulins, anti-thyroid peroxidase, anti-cardiolipin antibodies, anti-double stranded DNA, lupus anticoagulant, anti-transglutaminase antibodies, anti-gliadin IgG, antiglutamic acid decarboxylase 65, basal ganglia antibodies, DNAse B and anti-N-methyl-D-aspartate antibodies). Magnetic resonance imaging of the brain was normal, especially no signs suggestive of recent or old ischemic events were found. Due to the possible anamnestic association with throat infections, she had been treated with 1 mg/ kg prednisolone twice for several weeks and pheneticillin for three months for Sydenham’s chorea (SC). This only led to a temporal reduction of two weeks. Treatment with intravenous
40
CHAPTER 2a
immunoglobulins was considered, but her treating physician decided to first refer her to our tertiary clinic for advice on a possible etiology.
When visiting our clinic, we decided to stop the OCP for several months because of the strong relationship between initiation of OCP and onset of chorea. Follow-up on a monthly basis revealed reduction after three months of cessation and almost complete disappearance of the involuntary movements after four months (see video 2)*. Moreover, parents reported she regained her appetite and energy and did not show any irritable behavior anymore. She was referred to a gynaecologist for further treatment of her irregular menstruations.
DISCUSSION
With a significant percentage of adolescent girls using OCP for contraception or other purposes, OCP-induced chorea is an important cause to consider. This is regardless of the type of OCP.[3-5] Both unilateral and bilateral symptoms have been described.[3] The close relation in time appears to be the strongest diagnostic clue, as onset of symptoms is usually shortly after initiation of OCP.[3]
Although the pathophysiology remains unknown, several hormonal and (auto)immunolog-ical theories have been proposed. Oestrogens have been repeatedly considered as having a complex, possibly enhancing effect on the dopaminergic pathways.[6,7] Immunological theories are supported by the association of OCP-induced chorea with SC or an autoim-mune disease (systemic lupus erythematosus (SLE), antiphospholipid antibody syndrome (APS), anti-basal ganglia antibodies).[3] To our knowledge, this is the first report of OCP-induced chorea in a Down Syndrome patient. Down Syndrome is associated with a higher incidence of autoimmune diseases, possibly leading to a higher vulnerability for OCP-induced chorea.[8] Down Syndrome patients have a 26-fold higher prevalence of the moyamoya syndrome in comparison to the general population.[9] Moyamoya syndrome is a rare cerebrovascular occlusive disease, resulting in a presentation with (transient) cerebral ischaemia. The classical clinical manifestation include paralysis, headaches or convulsions, but there is one report of a Down Syndrome patient presenting with chorea as initial sign.[10] Moyamoya syndrome should be considered in acute chorea, especially in a Down Syndrome patient, although in our patient the likelihood was minimized by a normal MRI scan of the brain.
41 Contraceptive induced chorea in a girl with Down Syndrome
Most importantly, we would like to underscore that it may require patience for both patient and doctor to confirm the diagnosis of OCP-induced chorea. This case report shows that it sometimes takes several months before symptoms diminish after cessation. The differen-tial diagnosis of (sub)acute chorea in young patients is broad, including serious causes or etiologies requiring specific treatment, for instance SLE, APS, SC or moyamoya syndrome. It seems therefore rational to perform additional investigations while awaiting the effect of OCP cessation. However, rejecting the diagnosis too soon may lead to unnecessary treatments for other causes as in our patient. We emphasise that OCP should be discon-tinued for a minimum of three months before excluding this benign diagnosis of chorea. * Videos can be found at http://dx.doi.org/10.1016/j.ejpn.2016.03.004.
42
CHAPTER 2a
REFERENCES
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[2] Kirkham FJ, Haywood P, Kashyape P, Borbone J, Lording A, Pryde K, et al. Movement disorder emergencies in childhood. Eur J Paediatr Neurol 2011;15:390-404.
[3] Miranda M, Cardoso F, Giovannoni G, Church A. Oral contraceptives Induced chorea: another associated with anti-basalganglia antibodies. J Neurol Neurosurg Psychiatry 2004;75:327-328. [4] Vela L, Sfakianakis GN, Heros D, Koller W, Singer
C. Chorea and contraceptives: case report with PET study and review of the literature. Mov Disord 2004;19(3):349-352.
[5] Finer LB, Philbin JM. Sexual initiation, contraceptive use, and pregnancy among young adolescents. Pediatrics 2013;131(5):886-891. [6] Nausieda PA, Koller WC, Weiner WJ, Klawans
HL. Chorea induced by oral contraceptives. Neurology 1979;29:1605-1609.
[7] Cardoso F. Chorea gravidarum. Arch Neurol 2002;59:868-870.
[8] Gimenez-Barcons M, Caster as A, Armengol Mdel P, Porta E, Correa PA, Marin A, et al. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol 2014;193(8):3872-3879.
[9] Kainth DS, Chaudhry SA, Kainth HS, Suri FK, Qureshi AI. Prevalence and characteristics of concurrent down syndrome in patients with moyamoya disease. Neurosurgery 2013;72:210-215.
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43 Contraceptive induced chorea in a girl with Down Syndrome
