CME INDIA Case Presentation by Dr. Abhishek, MBBS, MD, DM (Neurology from AIIMS-Delhi). Consultant Neurologist, Paras HMRI Hospital, Patna.

CME INDIA Case Study

First see the video:

How Presented?

  • Young boy.
  • Developing these movement during exercise for last 1 yr.
  • Never at rest.
  • No focal findings.

CME INDIA Case Discussion:

Dr. S. K. Goenka, Physician, Begusarai:

  • Probably Reflex seizure.
  • Channelopathy? Or Photosensitivity (exercising in sun).

Dr. Venkatesh Molio, Consultant Physician, Maregoan, Goa:

  • Exercise induced dystonia Paroxysmal.

Dr. S. S. Lakshmanan, Consultant Physician, Chennai:

  • Paroxysmal exercise induced dystonia

Dr. Abhishek, Patna:

  • Yes, PKD (Paroxysmal kinesigenic dyskinesia)

Dr. N. K. Singh:

  • How did you manage? MRI Brain?

Dr. Abhishek, Patna:

  • MRI brain normal.
  • It responds to sodium channel blocker – Carbamazepine.
  • Complete control.
  • But recurrence after stopping it.

Dr. Ujjawal Roy, MBBS, MD, DM (Neurology), Roy Neuro Clinic, Ranchi:

CME INDIA Learning Points

  • PKD is the most common form of paroxysmal dyskinesia.
  • How to nail it: This disorder is characterized by recurrent and brief attacks of choreoathetoid and/or dystonic movements without alteration of consciousness that are triggered by the initiation of voluntary movements and usually last less than 1 min. The attacks can last as long as a few seconds to a few minutes, occur up to 100 times daily.
  • Typical onset: Childhood or adolescence and attacks are more frequent in puberty, whereas they are less frequent or even disappear in adulthood.
  • What about Auras: Auras are frequent and allow some patients to have partial control of the attacks.
  • Examination: Interictal neurological examination is normal. EEG: Focal interictal electroencephalography (EEG) changes over the right frontocentral area may be found in a patient with PKD with paroxysmal dystonic posturing of the left leg. Magnetic resonance imaging of the brain is normal. Ictal SPECT: Patients with unilateral attacks may show an increased perfusion of the contralateral basal ganglia.
  • Management: Patients with PKD attacks seem to respond well to anticonvulsants: lamotrigine, phenytoin, valproate, oxacarbazepine, and especially CBZ whose mechanism is blockade of ion conduction through voltagedependent ion channels of the neuron. Usually 100mg/day effectively controls PKD. Therapeutic dose range: 1.5 to 2.0 mg/kg/day (lower than that in seizure control).
  • How Common: The syndrome is rare with a prevalence estimated at 1:150,000. It is mainly a familial disorder with autosomal dominant inheritance and incomplete penetrance, but sporadic cases occur.
  • More in males: PKD more commonly affects males, with a sex ratio of 3 or 4 to 1 in the sporadic form, but not in familial cases.
  • Most recent Concept: PRRT2 is the major gene accounting for PKD, regardless of the population studied.

CME INDIA Tail Piece

  • PKD, also named paroxysmal kinesigenic choreoathetosis (PKC), the most common type of paroxysmal dyskinesia, was first described 1892 by Shuzo Kure in a young Japanese patient who had frequent movement-induced paroxysmal attacks, typical of PKD.

References:

  1. Carlo Nobile, Pasquale Striano,Chapter 8 – PRRT2: A major cause of infantile epilepsy and other paroxysmal disorders of childhood,Editor(s): Ortrud K. Steinlein,Progress in Brain Research,Elsevier,Volume 213,2014,Pages 141-158,https://doi.org/10.1016/B978-0-444-63326-2.00008-9.
  2. Kikuchi, T., Nomura, M., Tomita, H. et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 52, 334–341 (2007). https://doi.org/10.1007/s10038-007-0116-7
  3. Chou IC, Lin SS, Lin WD, et al. Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation. Biomedicine (Taipei). 2014;4(2):15. doi:10.7603/s40681-014-0015-0
  4. http://www.ncbi.nlm.nih.gov/books/NBK1460/.


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