A Report of a Patient with Hyperekplexia
محورهای موضوعی : Report of Health Care
Soheila Rezakhani
1
(Epilepsy Fellowship, Department of Neuroscience, Kerman Medical University, Kerman, Iran)
Sanaz Ahmadi Karvigh
2
(Epileptologist, Department of Neurology, Tehran Medical University, Tehran, Iran)
کلید واژه: Hyperekplexia, Video-EEG Monitoring, Carbamazepine,
چکیده مقاله :
Introduction: Hyperekplexia, or startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch stimulation that can cause serious injury from frequent falls. The disease is characterized by a triad of generalized stiffness while the patient is awake, nocturnal myoclonus, and an exaggerated startle reflex. Hereby, an interesting case of hyperekplexia with comorbidities is reported that was misdiagnosed as epilepsy for some years. Methods: Our patient was a 16-year-old right handed boy with frequent falls, without loss of consciousness that caused serious head trauma. He had exaggerated myoclonic jerks with tactile and auditory stimuli. Also, he had nocturnal attacks including a startle myoclonic jerk followed by sudden stiffening of the limbs and trunk with vocalization that lasted about 3 seconds without loss of awareness. There was a positive family history of jerky movements in his mother only when she was sleeping. He had a posttraumatic encephalomalacia in the right frontotemproparietal region due to one of his falls 10 years ago. He was diagnosed with epilepsy and was treated with valproate with no success. After total antiepileptic discontinuation and 10 days of video-EEG monitoring, no interictal epileptifrom finding was recorded. The attacks were not accompanied with ictal activity on EEG. Hyperekplexia may be misdiagnosed with startle epilepsy. The preservation of consciousness and absence of epileptiform discharges on EEG can be helpful for differentiating hyperekplexia from startle epilepsy. Startle epilepsy is often resistant to treatment; however, hyperekplexia usually responds well to clonazepam.
1. Tijssen MA, Rees MI. Hyperekplexia. GeneReviews. 2007.
2. Rees M, Harvey K, Pearce B, Chung S, Duguid I, Thomas P. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nat Genet. 2006; 38: 801.
3. Kojovic M, Cordivari C, Bhatia K. Myoclonic disorders: a practical approach for diagnosis and treatment. Ther Adv Neur Dis. 2011; 4 (1): 47- 62.
4. Lee CG, Kwon MJ, Yu HJ, Nam SH, Lee J, Ki CS, et al. Clinical features and genetic analysis of children with hyperekplexia in Korea. J Child Neurol. 2013; 28 (1): 90- 94.
5. Winczewska A, Badura M, Monies A, Maciej M, Steinborn B, Latos A, et al. A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. BMC Neurol. 2016; 16: 35.
6. Seidahmed MZ, Salih MA, Abdulbasit OB, Samadi A, Al Hussien K, Miqdad AM, et al. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. BMC Neurol. 2016; 16 (1): 105.
7. Roucoa I, Bilbao I, Losada J, Maestro I. Sporadic hyperekplexia presenting with an ataxic gait. Clin Neurosci. 2014; 21 (2): 345- 346.
8. Akhoondianm J, Jafarzadeh M, Parizadeh MJ. Hyperekplexia and excessive startle response in an infant: a case report. Med J Islamic Repu Iran. 2004; 18: 12- 18.
9. Lerman-Sagie T, Watemberg N, Vinkler C. Familial hyperekplexia and refractory status epilepticus: A new autosomal recessive syndrome. Child Neurol. 2004; 19: 522- 525.
10. Yasmine E, Dreissen M, Marina A, Tijssen J. The startle syndromes. Physiol Teatment Epilepsia. 2012; 53 (Suppl.7): 3- 11.
11. Lindahl A. Startles, jumps . Pract Neurol. 2005; 5: 292- 297.
12. Lee Y, Kim NY, Hong S, Chung SJ, Jeong SH, Lee PH, et al. Familiar hyperekplexia, a potential cause of cautious gait: a new Korean case and a systematic review of phenotypes. J Movement Disorders. 2017; 10 (1): 53.
13. McAbee GN. Clobazam- clonazepam combination effective for stimulus- induced falling in hyperekplexia. Child Neurol. 2014; 30 (1): 91- 92.
