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Parkinson's disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome.
BMJ Case Rep. 2018 Mar 22; 2018BC

Abstract

A growing amount of evidence indicates that 22q11.2 deletion syndrome (22q11.2DS) increases the risk of early-onset Parkinson's disease (EOPD). Here, we describe a 36-year-old patient with EOPD. The patient presented with 22q11.2DS features, including associated cognitive disabilities, hypocalcaemia and facial dysmorphia that led us to screen for and confirm this deletion. In addition, hypocalcaemia and vitamin D deficiency were the main factors responsible for severe, painful muscle spasms that were non-levodopa (L-Dopa) responsive and remitted after calcium and vitamin D replacement therapy. Many patients with this deletion remain undiagnosed until adulthood due to the absence of 'major' phenotypic hallmarks, which usually present during early childhood. Later onset problems involving various medical subspecialties are increasingly recognised as important components of 22q11.2DS. Therefore, the multisystem nature and associated burden of morbidities demand a high degree of suspicion for this entity from all clinicians regardless of their medical subspecialty.

Authors+Show Affiliations

Division of Movement Disorders, Department of Neurology, Coimbra Hospital and University Centre, Coimbra, Portugal.Department of Neurology, Coimbra Hospital and University Centre, Coimbra, Portugal.Department of Neurology, Coimbra Hospital and University Centre, Coimbra, Portugal.Division of Movement Disorders, Department of Neurology, Coimbra Hospital and University Centre, Coimbra, Portugal.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29572372

Citation

Moreira, Fradique, et al. "Parkinson's Disease With Hypocalcaemia: Adult Presentation of 22q11.2 Deletion Syndrome." BMJ Case Reports, vol. 2018, 2018.
Moreira F, Brás A, Lopes JR, et al. Parkinson's disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome. BMJ Case Rep. 2018;2018.
Moreira, F., Brás, A., Lopes, J. R., & Januário, C. (2018). Parkinson's disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome. BMJ Case Reports, 2018. https://doi.org/10.1136/bcr-2017-223751
Moreira F, et al. Parkinson's Disease With Hypocalcaemia: Adult Presentation of 22q11.2 Deletion Syndrome. BMJ Case Rep. 2018 Mar 22;2018 PubMed PMID: 29572372.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Parkinson's disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome. AU - Moreira,Fradique, AU - Brás,Ana, AU - Lopes,Joana Ramos, AU - Januário,Cristina, Y1 - 2018/03/22/ PY - 2018/3/25/entrez PY - 2018/3/25/pubmed PY - 2018/9/13/medline KW - calcium and bone KW - genetics KW - neurology KW - parkinson’s disease JF - BMJ case reports JO - BMJ Case Rep VL - 2018 N2 - A growing amount of evidence indicates that 22q11.2 deletion syndrome (22q11.2DS) increases the risk of early-onset Parkinson's disease (EOPD). Here, we describe a 36-year-old patient with EOPD. The patient presented with 22q11.2DS features, including associated cognitive disabilities, hypocalcaemia and facial dysmorphia that led us to screen for and confirm this deletion. In addition, hypocalcaemia and vitamin D deficiency were the main factors responsible for severe, painful muscle spasms that were non-levodopa (L-Dopa) responsive and remitted after calcium and vitamin D replacement therapy. Many patients with this deletion remain undiagnosed until adulthood due to the absence of 'major' phenotypic hallmarks, which usually present during early childhood. Later onset problems involving various medical subspecialties are increasingly recognised as important components of 22q11.2DS. Therefore, the multisystem nature and associated burden of morbidities demand a high degree of suspicion for this entity from all clinicians regardless of their medical subspecialty. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/29572372/Parkinson's_disease_with_hypocalcaemia:_adult_presentation_of_22q11.2_deletion_syndrome L2 - https://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=29572372 DB - PRIME DP - Unbound Medicine ER -