Chorea and Cognitive Impairment in JAK2V617F-Positive Myeloproliferative Disorders: A Case Report and Literature Review
Abstract
:1. Introduction
2. Case Report
3. Discussion
3.1. The Link between MPD and Chorea
3.2. Reviewing the Available Literature
Reference | NOC | Age (y) | G | MPN | Comorbidities | Chorea Site | Other Signs or Symptoms | Chorea Onset | Organomegaly | Polycythemia | Thrombocythemia | Leukocytosis | HV | Bone Marrow Biopsy | Genetic Test for HD | JAK2 Mutation | Brain Imaging | Treatment | Clinical Follow-Up after Treatment | Mental Status |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Coppack et al. [15] | 1 | 57 | F | Post PV MF and reverting to PRV (TMPD) | History of chorea relieved with chlordiazepoxide (St Vitus’ dance in 1920 following rheumatic fever), left ventricular hypertrophy | Generalized chorea and orofacial muscles | plethora; loose teeth, and mouth and tongue ulcers | N/A | Splenomegaly and hepatomegaly | Yes (Hb 21.8 g/dL) | No (400 × 109/L) | Yes (18 × 109/L) | Yes | Normal | N/A | N/A | CT: normal basal ganglia. Mild cerebral atrophy with small infarcts in the right cerebellum and left parietal lobe | Radiophosphorus, phlebotomies | Improvement of chorea, hematological abnormalities, and cognitive status | Memory deterioration and attacks of unresponsiveness of 20–30 s |
Mas et al. [25] | 2 | 72 | F | PV | N/A | Generalized chorea and orofaciolingual muscles | Transient attacks of visual blurring and right hemiparesis, epistaxis | 7Y | No splenomegaly | Yes (Hb 18.5 g/dL, RBCs 6 × 1012/L) | No (190 × 109/L) | Yes (12.1 × 109/L) | N/A | Global hyperplasia without fibrosis | N/A | N/A | CT: normal | Phlebotomies, haloperidol | No recurrence of polycythemia or neurological symptoms | Normal |
73 | F | PV | N/A | Left limbs and orofaciolingual muscles | plethora; dysarthria, grimacing, grunting, transient attacks of dizziness, visual blurring, and epistaxis. | 5M | No splenomegaly | Yes (Hb 18.5 g/dL, RBCs 6.6 × 1012/L) | No (372 × 109/L) | No (10.7 × 109/L) | N/A | Global hyperplasia without fibrosis | N/A | N/A | CT: normal | Phlebotomies, haloperidol | Remission of chorea | N/A | ||
Cohen et al. [23] | 1 | 65 | F | PV | Hypertension and an ovarian tumor | Limbs and orofacial dyskinesia | plethora; dysarthria, dizziness, vertigo, and weight loss | N/A | Splenomegaly. No hepatomegaly | Yes (Hb 18.2 g/dL, Ht 58%) | No (450 × 109/L) | No (11.6 × 109/L) | Yes | Hypercellularity and normal chromosomal analysis | N/A | N/A | CT: normal | Phlebotomies | Resolution of chorea and blood abnormalities | N/A |
Nazabal et al. [26] | 1 | 74 | F | PV | PV 10 y prior | Generalized chorea and orofaciolingual muscles | Moderately severe dysarthria, grimacing, and grunting | N/A | No splenomegaly | Yes (Hb 16.8 g/dL, RBCs 7.60 × 1012/L) | Yes (474 × 109/L) | Yes (25 × 109/L) | N/A | Global hyperplasia without fibrosis | N/A | N/A | MRI: normal | Phlebotomies, haloperidol | Improvement of chorea and normalization of Hb | Normal |
Kumar et al. [11] | 1 | 82 | F | PV | Hypertension and smoking | Trunk, both upper limbs, tongue, lips, and posterior pharyngeal wall | plethora | A few days | No splenomegaly | Yes (Hb 18.1 g/dL, Ht 56%, RBCs 6.92 × 1012/L) | Yes (492 × 109/L) | No (9.6 × 109/L) | N/A | N/A | N/A | Positive | MRI: age-related cortical atrophy | Hydroxyurea (1000 mg per day) | Remission of chorea and improvement of hematological abnormalities | Normal |
Huang et al. [30] | 1 | 70 | F | PV | N/A | Limbs and orofaciolingual muscle | Erythromelalgia of the hands with mild clubbing of the fingers | 6M | No splenomegaly | Yes (Hb 16.8 g/dL, Ht 51.7%, RBCs 5.91 × 1012/L) | Yes (769 × 109/L) | No | N/A | N/A | N/A | Positive | MRI: normal. SPECT reduced uptake in the bilateral basal ganglia, especially on the left side. FDG PET increased FDG uptake over the right dorsolateral prefrontal cortex and left insular cortex. | Phlebotomies | Improvement of chorea and hematological abnormalities | N/A |
Ghorbel et al. [31] | 1 | 78 | M | PV | None | Limbs and face | Headache | 1M | No splenomegaly | Yes (Hb 20 g/dL, Ht 62.3%) | No | No | N/A | Hypercellularity of the three lines | N/A | Positive | CT: normal | Hydroxyurea 200 mg OD | Resolution of chorea and improvement of hematological abnormalities | N/A |
Severs et al. [28] | 1 | 73 | F | PV | Osteoporosis, recurrent urinary tract infections, and polymyalgia rheumatica | Upper limbs | plethora; positive snout, glabellar, right palmomental reflexes, and automatisms of the mouth and lips | N/A | No splenomegaly. No hepatomegaly | Yes (Hb 18.7 g/dL, Ht 57%) | No | No | N/A | N/A | N/A | Positive | MRI: mild ischemic white matter lesions | Phlebotomies | Improvement of chorea, hematological abnormalities, and psychological status | Mild cognitive impairment with frontal syndrome |
Lew et al. [32] | 1 | 87 | F | PV | None | Left hemichorea and face | Dysarthria and facial asymmetry | N/A | No splenomegaly | No (Hb 15.6 g/dL, Ht 44.2%) | No (281 × 109/L) | No (8.6 × 109/L) | N/A | N/A (patient refused) | N/A | Positive | MRI/MRA: normal | Phlebotomy, hydroxyurea | Resolution of chorea improvement and hematological abnormalities | N/A |
Bhargava et al. [24] | 1 | 58 | F | PV | None | Right hemichorea | None | N/A | Mild hepatomegaly and splenomegaly | Yes (Hb 17.5 g/dL) | No (305 × 109/L) | Yes (13.48 × 109/L) | N/A | Panmyelosis | BCR-ABL1- negative | Positive | MRI: symmetrical hyperintense in the basal ganglia on the T2-weighted and FLAIR sequence without any significant restriction on diffusion-weighted image or enhancement | Phlebotomies, hydroxyurea, low-dose aspirin | No recurrence of hemichorea | N/A |
Venkatesan et al. [4] | 1 | 55 | F | ET | N/A | Limbs, face, and tongue | Dysarthria | N/A | No splenomegaly. No hepatomegaly | Yes (Hb 15.1 g/dL, Ht 46.3%, RBCs 5.07 × 1012/L) | Yes (1092 × 109/L) | Yes (14.2 × 109/L) | N/A | Hypercellularity with a marked increase in megakaryocytes | N/A | Positive | MRI: normal | Hydroxyurea | Resolution of chorea and improvement of hematological abnormalities | MMSE 28 |
Liu et al. [12] | 1 | 70 | F | PV | None | Limbs and orofaciolingual muscles | plethora; erythromelalgia, dysarthria, and dysphagia | 4D | No splenomegaly | Yes (Hb 20.1 g/dL, Ht 65.8%) | N/A | N/A | N/A | Hypercellularity, erythroid hyperplasia, granulocyte/erythroid ratio 1:2, and megakaryocytic 8–10/higher power field | N/A | Positive | MRI: mild ischemic white matter lesions | Hydroxyurea 1.500 mg, Clopidogrel 50 mg per day | Resolution of chorea | MMSE 29 |
Degnan et al. [2] | 1 | 84 | M | PV | Dukes A sigmoid adenocarcinoma (treated with curative polypectomy) and benign prostatic hypertrophy | Limbs and axial, orofaciolingual muscles | Dysarthria and involuntary coughing and grunting | 2M | No splenomegaly. No hepatomegaly | Yes (Hb 19.9 g/dL, Ht 58.6%) | Yes (352 × 109/L) | Yes (21.2 × 109/L) | N/A | N/A | Negative for Huntington’s | Positive | CT: small vessel disease | Phlebotomies | Resolution of chorea and hematological abnormalities | N/A |
Rossi et al. [33] | 1 | 72 | F | PV | N/A | Right hemichorea and orofacial muscles | None | N/A | No splenomegaly. No hepatomegaly | Yes (Hb 18.5 g/dL, Ht 56%) | N/A | N/A | N/A | N/A | Negative for Huntington’s, C9orf72-negative. | Positive | MRI: normal | Phlebotomy, hydroxyurea | Resolution of chorea | N/A |
Garcia-Cabo et al. [33] | 1 | 96 | M | PV | PV previously treated with hydroxyurea, hypertension, atrial fibrillation, and chronic lower limb ischemia | Left arm and face | Frontal lobe syndrome | 4D | No splenomegaly | No (Hb 15.5 g/dL, Ht 46%) | No | No | N/A | N/A | N/A | N/A | CT: normal | Hydroxyurea | Improvement of chorea | Mild cognitive impairment with frontal syndrome |
Rodrigues et al. [34] | 1 | 75 | F | PV | Myelodysplastic syndrome under investigation, depression, and hypertension | Limbs, mouth, and face | Erythromelalgia, generalized pruritus, weight loss of 16 kg over 6M, and mild rigidity of the limbs | 3M | No splenomegaly. No hepatomegaly | Yes (Hb 17.4 g/dL) | Yes (600 × 109/L) | No (9.5 × 109/L) | N/A | Hypercellularity with erythroid and megakaryocytic predominance | Negative for Huntington’s | Positive | MRI: microangiopathic leukoencephalopathy | Risperidone, hydroxyurea | Improvement of chorea and hematological abnormalities | Normal |
Bhattacharjee [1] | 1 | 80 | F | PV | Hypertension | Upper limbs and orofacial muscles | Motor impersistence evidenced by sustained tongue protrusion on request | 6M | No splenomegaly. No hepatomegaly | Yes (Hb 17.6 g/dL, Ht 57%) | Yes (6.8 × 109/L) | Yes (14 × 109/L) | N/A | N/A | Negative for Huntington’s | Positive | MRI: normal | Phlebotomy, Aspirin 75 mg OD | No improvement of chorea and improvement of hematological abnormalities | MMSE 25 |
Koya et al. [14] | 1 | 79 | F | ET | ET treated with hydroxyurea 500 mg OD | Generalized chorea | Weight loss | 1Y | No splenomegaly | No (Hb 9.1 g/dL, Ht 29.3%, RBCs 2.67 × 1012/L) | No (341 × 109/L) | No (4.01 × 109/L) | N/A | Mild dysplastic changes in the erythroid series | Negative for Huntington’s | Positive | MRI: small vessel disease and non-specific symmetric T2 and FLAIR hyperintensities within the brainstem | Tetrabenazine 12.5 mg twice daily | Improvement of chorea | MMSE 28 |
Bette et al. [18] | 1 | 86 | M | PV | Left amaurosis fugax, left acoustic neuroma treated with gamma knife radiation, and C2 to C7 spinal fusion complicated by left hemiparesis. | Generalized chorea | plethora; dysarthria, diffuse ecchymoses, left hemiparesis, involuntary facial grimacing, tongue chewing, grunting, shoulder shrugging, and 17-pound weight loss | 1M | No splenomegaly. No hepatomegaly | No (Hb 14.4 g/dL) | No (209 × 109/L) | Yes (16.4 × 109/L) | N/A | N/A | Huntington- negative | Positive | MRI: left internal auditory canal enhancement | Hydroxyurea, tetrabenazine | Improvement of chorea and hematological abnormalities | N/A |
De Lil et al. [27] | 2 | 86 | F | PV | None | Right-sided hemiballism | Psychotic derangement, aphasia, and apraxia | 1Y | No splenomegaly. No hepatomegaly | Yes (Hb 16.1 g/dL, Ht 49%) | Yes (605 × 109/L) | Yes (12.9 × 109/L) | N/A | N/A | N/A | Positive | MRI: mild generalized atrophy and cerebral small vessel disease | Phlebotomies, hydroxycarbamide | Improvement of chorea, hematological abnormalities, and neuropsychiatric findings | MOCA 16 |
71 | M | PV | None | Right arm | Headaches, dizziness, double vision, and ataxia of the upper limbs | Several months | N/A | Yes (Hb 21.8 g/dL, Ht 67%) | Yes (404 × 109/L) | No (7.3 × 109/L) | N/A | N/A | Huntington—negative | Positive | MRI: insular venous developmental anomaly | Phlebotomies | Improvement of chorea and ataxia and resolution of headache and visual disturbances | N/A | ||
Calculli et al. [13] | 1 | 61 | F | ET | ET treated with hydroxyurea, which was interrupted right before symptomatic onset | Left upper limb, and ipsilateral foot and toes, and oromandibular muscles | N/A | 3M | N/A | N/A | Yes (816 × 109/L) | N/A | N/A | N/A | Huntington—negative | Positive | MRI: chronic vascular infarction in the right caudate nucleus | Hydroxyurea 1000 mg OD, tetrabenazine 12.5 mg TD | Improvement of chorea and hematological abnormalities | N/A |
Li et al. [35] | 1 | 68 | M | Post-PV MF | PV 10 y prior | Left hemichorea and orofaciolingual muscles | plethora; delirium, agitation, pouting, and grimacing | 1D | No splenomegaly. No hepatomegaly | No (Hb 11.4 g/dL, Ht 41.9%, RBCs 4.98 × 1012/L) | No (125 × 109/L) | Yes (36.5 × 109/L) | N/A | Global hyperplasia with fibrosis, consistent with post-PV MF | N/A | Positive | MRI: encephalomalacia of the left frontal and right parietal lobes, gliosis, and cerebral small-vessel disease | Hydroxyurea, tiapride hydrochloride, clonazepam, quetiapine | Improvement of chorea and hematological abnormalities | Neuropsychological testing was not possible to complete |
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Test | August 2022 (Psychiatry Department) | September 2022 (Hematology Department) | November 2022 (Neurology Department) | February 2023 (Neurology Department) | September 2023 (Neurology Department) | Reference Values |
---|---|---|---|---|---|---|
Red cell count | 5,630,000/mm3 | 5,680,000/mm3 | 5,240,000/mm3 | 5,410,000/mm3 | 4,800,000/mm3 | 4,500,000–6,200,000/mm3 |
Hemoglobin | 15 g/dL | 15.4 g/dL | 15.2 g/dL | 16.5 g/dL | 14.5 g/dL | 12.3–17 g/dL |
Hematocrit | 46.9% | 47.9% | 47.1% | 50.8% | 46.1% | 37–52% |
White cell count | 4260/mm3 | 5140/mm3 | 5890/mm3 | 4800/mm3 | 3870/mm3 | 4000–10,000/mm3 |
Platelet count | 252,000/mm3 | 305,000/mm3 | 252,000/mm3 | 200,000/mm3 | 174,000/mm3 | 150,000–450,000/mm3 |
INR | - | 1.75 | 1.61 | 1.9 | 2.01 | 0.86–1.14 |
Clinical presentation | Severe depression Suicidal attempt Generalized chorea | Generalized chorea | Generalized chorea Hypersomnia Hyperphagia Cognitive decline | No choreiform movements at the time of examination (family members report noticing them occasionally) | No choreiform movements at the time of examination (family members report noticing them occasionally) | |
Neurocognitive status | MMSE 15p | - | MOCA 19p | MOCA 16p | MOCA 17p | |
Hydroxyurea treatment | Without treatment for approximately 7 years | Reinitialization of hydroxyurea 500 mg per day | Hydroxyurea 500 mg per day | Hydroxyurea 500 mg per day | Hydroxyurea 500 mg per day |
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Butnariu, I.; Antonescu-Ghelmez, D.; Moraru, A.; Anghel, D.N.; Cojocaru, F.M.; Tuță, S.; Ciobanu, A.M.; Antonescu, F. Chorea and Cognitive Impairment in JAK2V617F-Positive Myeloproliferative Disorders: A Case Report and Literature Review. Medicina 2024, 60, 18. https://doi.org/10.3390/medicina60010018
Butnariu I, Antonescu-Ghelmez D, Moraru A, Anghel DN, Cojocaru FM, Tuță S, Ciobanu AM, Antonescu F. Chorea and Cognitive Impairment in JAK2V617F-Positive Myeloproliferative Disorders: A Case Report and Literature Review. Medicina. 2024; 60(1):18. https://doi.org/10.3390/medicina60010018
Chicago/Turabian StyleButnariu, Ioana, Dana Antonescu-Ghelmez, Adriana Moraru, Daniela Nicoleta Anghel, Florentina Melania Cojocaru, Sorin Tuță, Adela Magdalena Ciobanu, and Florian Antonescu. 2024. "Chorea and Cognitive Impairment in JAK2V617F-Positive Myeloproliferative Disorders: A Case Report and Literature Review" Medicina 60, no. 1: 18. https://doi.org/10.3390/medicina60010018