Anaesthetic Implications of Hyperekplexia—'Startle Disease’ (original) (raw)
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Postgraduate Medical Journal, 2001
Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus. The genetic basis is a mutation usually of the arginine residue 271 leading to neuronal hyperexcitability by impairing glycinergic inhibition. Hyperekplexia is usually familial, most often autosomal dominant with complete penetrance and variable expression. It can present in fetal life as abnormal intrauterine movements, or later at any time from the neonatal period to adulthood. Early manifestations include abnormal responses to unexpected auditory, visual, and somatosensory stimuli such as sustained tonic spasm, exaggerated startle response, and fetal posture with clenched fists and anxious stare. The tonic spasms may mimic generalised tonic seizures, leading to apnoea and death. Consistent generalised flexor spasm in response to tapping of the nasal bridge (without habituation) is the clinical hallmark of hyperekplexia. Electroencephalography may show fast spikes initially during the tonic spasms, followed by slowing of background activity with eventual flattening corresponding to the phase of apnoea bradycardia and cyanosis. Electromyography shows a characteristic almost permanent muscular activity with periods of electrical quietness. Nerve conduction velocity is normal. No specific computed tomography findings have been reported yet. Clonazepam, a gamma aminobutyric acid (GABA) receptor agonist, is the treatment of choice for hypertonia and apnoeic episodes. It, however, may not influence the degree of stiVness significantly. A simple manoeuvre like forced flexion of the head and legs towards the trunk is known to be life saving when prolonged stiVness impedes respiration.
Approach to exaggerated startle reflex: a case of hyperekplexia minor
BMJ Case Reports, 2020
A broad set of conditions may present with an exaggerated startle reflex in clinics. This, combined with the overall rarity of these disorders, may pose diagnostic uncertainty in the mind of the treating physician. Herein, we report a case of a patient who presented to us with the complaint of exaggerated startle reflex and outline a simple approach towards characterisation of these disorders.
Neonatal Hyperekplexia: A Case Report
Epilepsia, 1992
Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test. The disease is inherited in an autosomal dominant fashion. Recessively inherited and sporadic forms of the disorder are also seen. Neonatal hyperekplexia is extremely rare but important because, if undiagnosed and untreated, the disease can be fatal. Hyperekplexia is easily mistaken for commoner disorders such as spastic cerebral palsy and epilepsy. Clonazepam is of benefit, but it does not always stop the prolonged spasms. Forced flexion of baby's head toward the trunk is the most effective treatment. We report a young female infant who presented with excessive jerky movements of the limbs in response to tactile stimuli, associated with episodic generalized stiffness and irritability since her birth. Marked improvement was seen following the use of clonazepam.
Hyperekplexia, a cause of neonatal apnea: a case report
Brain and Development, 1995
We report a case of non-familial hyperekplexia which characteristically developed apnea and feeding difficulties in the neonatal period. The abnormal startle response was evident from the second week of life onwards. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam. Clobazam was also tried with no apparent response. A prominent long latency C response was observed on EMG examination, suggesting a possible cortical neuronal hyperexcitability origin for the abnormal startle response observed in hyperekplexia.
Neonatal sporadic hyperekplexia: a rare and often unrecognized entity
Brain and Development, 1997
We report the case of a newborn infant with transient generalized stiffness, obvious from the first days of life, increased muscle tone and repeated myoclonic jerks, who was unsuccessfully treated with phenobarbital until the diagnosis of neonatal sporadic hyperekplexia. To our knowledge this is the first case successfully treated with clobazam, a 1.5 dibenzodiazepine. © 1997 Elsevier Science B.V.
Sporadic hyperekplexia plus syndrome
Journal of Pediatric Neurosciences, 2017
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period. He was having hyperalert facies, intelligent, cooperative with mild dysmorphism. His investigations were noncontributory except giant somatosensory evoked potentials and skeletal abnormalities. He showed excellent response to clonazepam and no complications on withdrawing the antiepileptic drugs. Proper diagnosis is of great therapeutic relevance and is based on high degree of suspicion.
Anaesthesia in children with neuromuscular disease
2013
Anaesthesia in children with a neuromuscular disease is challenging the anaesthesiologist. In this group occur frequently perioperative complications from muscle weakness, respiratory depression and cardiac involvement. Lack of experience is the reason for uncertainty. Knowledge of the pathophysiology and relevant pharmacology of the disease, preoperative development of an adequate treatment plan with consultation of other disciplines, and close monitoring of the patient are extremely important. The various diseases can be divided according to the location of the disorder: pre-junctional, junctional, post-junctional. Many of them are described in this article. Only few patients are susceptible for malignant hyperthermia. Rhabdomyolyis can be induced by inhalational anaesthesia and succinylcholine in many of these diseases, whereas in most a prolonged effect of muscle relaxants exist and succinylcholine may induce myotonic reactions. The complications and anaesthetic effects in many ...
Hyperexplexia: an inherited disorder of the startle response
Clinical Genetics, 2008
A family is presented with hyperexplexia, a rare autosomal dominant neurological disorder. Affected individuals manifest flexor hypertonia and hypokinesia during infancy. Later and throughout life, the condition is characterized by exaggerated involuntary myoclonic startle reactions, which on occasion result in failing. There are also marked nocturnal myoclonic jerks. Many family members have had congenital hip dislocations and inguinal hernias. Pre-and postnatal hypertonia is proposed as the cause for these problems. The nature and location of central nervous system dysfunction in hyperexplexia was investigated using electroencephalographic and brainstem-evoked response techniques. A dysfunction of cortical inhibition of the brainstem-mediated startle response is discussed as a possible pathogenic mechanism. Accurate diagnosis of this disorder is important in order to provide appropriate counseling and to initiate effective treatment.
Anesthetic Implications in Stiff-Person Syndrome
Anesthesia & Analgesia, 1995
Stiff-person syndrome (SPS) is a rare neurologic disease manifested by persistent muscle contractions causing marked rigidity in the affected individual [1]. There are many case descriptions and clinical reviews in the neurologic literature, outlining a progression of knowledge from the early clinical description of SPS to advanced molecular biologic and immunologic studies implicating the gamma-aminobutyric acid (GABA) receptor system [1-3]. We report a case of prolonged hypotonicity after general anesthesia in a patient with SPS and discuss the possible anesthetic interactions. A 46-yr-old female presented to the operating room for repair of an intrathecal baclofen pump. Her diagnosis of SPS was based on clinical presentation and the presence of an autoantibody against the central nervous system enzyme glutamic acid decarboxylase (GAD). The syndrome began as muscle stiffness in her lower
Anaesthesia in children with inherited neuromuscular diseases
Srpski Arhiv Za Celokupno Lekarstvo, 2010
Клиника за дечју хирургију и ортопедију, Клинички центар, Ниш, Србија UVOD Ane ste zi o lo zi,na ro či todeč ji,ne ret koseu sva ko dnev nomra dusre ćusade comko jaima juuro đe nane u ro mi šić naobo qe wa.Ne za vi snoodto gadalijerečodi jag no stič kojili te ra pij skojhi rur škojin ter ven ci ji,pra vil nimiz bo romane ste zi o lo šketeh ni kei le ko vamo guseiz be ćipo gor ša weosnov ne bo le stiiin ter ak ci jasme di ka ment nomte ra pi jomko jujepre po ru čione u ro log[14]. Na ža lost,re la tiv noma librojra do vaba viseovimpro ble mom,apo da ciuli te ra tu risvo deseuglav nomnapri ka zeslu ča je vailinais ku stvasma limbro jembo le sni ka.Za tojošnepo sto jepro to ko li,većsa mo pre po ru ke,pasudi le meane ste zi o lo gauve zispe ri o pe ra ci o nimzbri wa va wembo le sni ka,vr stomane ste zi jeile če wempo sle ope ra ci jesa mode li mič noraz re še ne[5,6]. Uro đe nene u ro mi šić nebo le stide lese na:ne u ro pa ti je,po re me ća jene u ro mi šić ne spoj ni ceimi o pa ti je.Uokvi rusva kegru pe po sto jeeti o pa to ge net skiraz li či taobo qe wa she te ro ge nimkli nič kimis po qa va wem[7]. NEUROPATIJE Uro đe nipo re me ća jipe ri fer nihne ra vaob u hva ta ju:na sled naobo qe wamo tor nogne u ro na(spi nal nemi šić neatro fi je),he re di tar nede mi je li na cij skene u ro pa ti jeime ta bo lič kene u ro pa ti je.