January 2018

Four-year-old presents with right arm weakness when crying

History & Exam

  • A four-year-old girl with no previous medical history presents with two years of spells of right arm “clumsiness” and right facial droop after crying, which typically resolve in 5-10 minutes. After a recent fever and diarrhea from norovirus (in a preschool outbreak), the spells became more frequent and longer lasting, prompting imaging.
  • Review of further history was unremarkable other than noted Korean ancestry and mother reporting severe migraines and similar spells of left hand weakness at times of stress. The mother also had a sibling who died in childhood from a stroke. The patient has an older sibling, who is healthy.
  • Exam was normal.

 

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1. A radiographic finding associated with moyamoya is
2. What treatment would you offer?
3. Mutation of which gene is most commonly associated with this disease in this population?
4. Which of the following describes you?
5. I practice in one of the following locations.
6. Comments

Your answers will be added to those already obtained and tabulated at the end of the month.

Case Explanation: 

Question 1: The imaging demonstrates a case of bilateral moyamoya disease, with the axial FLAIR MRI revealing ivy sign (red arrows, a marker of slow cortical blood flow) and chronic left frontal infarction in a watershed distribution (blue arrow).  The MRA shows marked attenuation of the internal carotid arteries bilaterally, left worse than right (red arrows), concordant with the more severe disease with infarction on the left.  In addition, the vertebrobasilar system is normal (blue arrow), a common finding in moyamoya (although posterior cerebral artery disease has been reported in 10-30% of some series).  The AP and lateral left ICA injections on the catheter angiogram support the diagnosis of moyamoya, with classic Suzuki III-IV findings of ICA narrowing and the “puff of smoke” collateral circulation (red arrows).  The lateral vertebrobasilar injection confirms the absence of posterior circulation disease, while also highlighting evidence of posterior to anterior collateralization along the splenium and body of the corpus callosum (blue arrow).
 
Question 2: The diagnosis of symptomatic moyamoya, with transient ischemic attacks (TIAs) clinically and advanced radiographic disease including stroke, support surgical revascularization as a first-line treatment.  While there is debate about specific surgical approaches, the young age in this case suggests that indirect bypass may be technically the most feasible option.  In addition, recent data and guidelines support the preferential use of indirect bypass in the pediatric population.  Outcomes are demonstrably better at high-volume centers, supporting referral of pediatric moyamoya patients to hospitals with established pediatric cerebrovascular programs.
 
Question 3: Mutations in the RNF213 gene are present in approximately 2/3 of familial cases of moyamoya in patients with Asian ancestry.  The history of potential TIAs in the patient’s mother, the childhood stroke-related death of the mother’s sibling and the presentation of the patient suggest that a familial mutation may be present in this case.  Referral to a geneticist for RNF213 testing and possible family screening may be indicated.

References:

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  • Macyszyn L1, Attiah M1, Ma TS1, Ali Z1, Faught R1, Hossain A1, Man K1, Patel H1, Sobota R1, Zager EL1, Stein SC1.
  • J Neurosurg. 2017 May;126(5):1523-1529. doi: 10.3171/2015.8.JNS15504. Epub 2016 Jul 29.
  • PMID:27471892
  • Incidence, clinical features, and treatment of familial moyamoya in pediatric patients: a single-institution series.
  • Gaillard J, Klein J, Duran D, Storey A, Scott RM, Kahle K, Smith ER.
  • J Neurosurg Pediatr. 2017 May;19(5):553-559. doi: 10.3171/2016.12.PEDS16468. Epub 2017 Mar 10.
  • PMID:28291427
  • National Analysis of 2454 Pediatric Moyamoya Admissions and the Effect of Hospital Volume on Outcomes.
  • Titsworth WL, Scott RM, Smith ER.
  • Stroke. 2016 May;47(5):1303-11. doi: 10.1161/STROKEAHA.115.012168. Epub 2016 Apr 5.
  • PMID:27048697
  • Spontaneous occlusion of the circle of Willis in children: pediatric moyamoya summary with proposed evidence-based practice guidelines. A review.
  • Smith ER, Scott RM.
  • J Neurosurg Pediatr. 2012 Apr;9(4):353-60. doi: 10.3171/2011.12.PEDS1172. Review.
  • PMID: 22462697
  • Management of stroke in infants and children: a scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young.
  • Roach ES, Golomb MR, Adams R, Biller J, Daniels S, Deveber G, Ferriero D, Jones BV, Kirkham FJ, Scott RM, Smith ER; American Heart Association Stroke Council; Council on Cardiovascular Disease in the Young.
  • Stroke. 2008 Sep;39(9):2644-91. doi: 10.1161/STROKEAHA.108.189696. Epub 2008 Jul 17. Review. Erratum in: Stroke. 2009 Jan 1;40(1):e8-10.
  • PMID:18635845

 

Nexus Occlusive Vascular Cases