ABSTRACT
Neuroblastoma associated with the paraneoplastic syndrome of opsoclonus-myoclonus is well-described. However, presentation with narcolepsy-cataplexy is not well-documented in the literature. Narcolepsy with cataplexy is also rare in children younger than 5 years of age. Here we describe three patients, each presenting in early childhood with complex neurological symptoms including narcolepsy with cataplexy that were subsequently found to have paraspinal neuroblastoma. In two of the cases, neurological symptoms resolved with treatment of the tumor and/or immunosuppression, but in one case, the child persistently had a devastating course despite complete resection of the tumor and aggressive immunosuppression.
Subject(s)
Cataplexy/diagnosis , Narcolepsy/diagnosis , Neoplasms, Unknown Primary/diagnosis , Neuroblastoma/diagnosis , Cataplexy/etiology , Child, Preschool , Diagnosis, Differential , Female , Humans , Narcolepsy/etiology , Neoplasms, Unknown Primary/complications , Neuroblastoma/complicationsABSTRACT
We reviewed those paroxysmal disorders of infancy and of the newborn in which the normal process of bathing may be an important trigger. We focused on infant bathing in normal temperature water (37 degrees C, range 36-38 degrees C) rather than in hot water that is above body temperature. Four principal diagnostic categories emerged: bathing epilepsy, alternating hemiplegia of childhood, hyperekplexia and paroxysmal extreme pain disorder. Bathing or water immersion epilepsy was the best studied and is arguably distinct from hot water epilepsy. The paroxysmal episodes previously attributed to aquagenic urticaria may have been examples of bathing epilepsy with a genetic component. Despite suggestions in the literature to the contrary, no convincing reports of bath-induced infantile syncope have been found. The underlying mechanisms of bath-induced paroxysmal disorders in infancy remain poorly understood, but all have autonomic manifestations and some if not all may be channelopathies.
Subject(s)
Baths , Epilepsy, Reflex/etiology , Hemiplegia/etiology , Pain/etiology , Syncope/etiology , Water , Epilepsy, Reflex/physiopathology , Hemiplegia/physiopathology , Humans , Infant , Infant, Newborn , Pain/physiopathology , Syncope/physiopathology , TemperatureABSTRACT
We describe epileptic seizures including status epilepticus provoked by recurrent obstructive apnea in a child with Cornelia de Lange syndrome. From the age of 10 months, this boy had recurrent respiratory infections with obstructive apnea leading to cyanosis and loss of consciousness. Approximately, 25% of apneas were followed by clonic jerks usually lasting 10 min, but once status epilepticus. He never had unprovoked epileptic seizures. At first he was diagnosed with symptomatic epilepsy and given carbamazepine and phenobarbital, without benefit. Significant improvement occurred after his mother was taught to extract mucus from his upper airways before obstruction occurred. He is no longer on anti-epileptic drugs. With this management, he had only one episode of obstructive apnea followed by an epileptic component. The events in this child were anoxic-epileptic seizures, that is, epileptic seizures triggered by syncopes. Anoxic-epileptic seizures have not previously been described in Cornelia de Lange syndrome. This case illustrates that, even when recurrent epileptic seizures occur in patients with known structural cerebral pathology, the diagnosis of symptomatic epilepsy should not be uncritically accepted.
Subject(s)
De Lange Syndrome/complications , Epilepsy/etiology , Seizures/etiology , Sleep Apnea, Obstructive/complications , Brain/pathology , Child, Preschool , De Lange Syndrome/pathology , De Lange Syndrome/therapy , Epilepsy/pathology , Humans , Hypoxia , Male , Seizures/pathology , Sleep Apnea, Obstructive/pathology , Sleep Apnea, Obstructive/therapy , Syncope/physiopathologyABSTRACT
Occasionally, but more often than has been reported, true epileptic seizures are triggered by non-epileptic syncopes. This combination of syncope and epileptic seizure has been called an anoxic-epileptic seizure. A few examples of such anoxic-epileptic seizures, including the induction of status epilepticus, have been reported in books and medical journals, but no video-recordings have been published. We show here home video recordings of the first three known examples of the transition from the triggering syncope and anoxic seizure, to the subsequent epileptic seizure. In the first two children, a neurally-mediated syncope, probably mediated by prolonged expiratory apnoea (so-called breath-holding spells), induces a long, clonic epileptic seizure with some features of myoclonic absence. In the third example, a compulsive Valsalva in an older autistic child provokes a vibratory tonic epileptic seizure. In addition, we show two further video clips of the most usual type of epileptic seizure induced by syncopes in very young children. In one, the video recording begins after the end of the triggering syncope and shows a rhythmic clonic seizure that includes repetitive vocalizations. The final recoding is of a spontaneous epileptic seizure with features of myoclonic absence: this child had both epilepsy and identical episodes induced by syncopes, that is, anoxic- epileptic seizures. Not only paediatricians and paediatric neurologists, but also adult neurologists and epileptologists in general, should be aware of the important clinical scenario of true epileptic seizures induced by syncopes. This phenomenon is not considered in any international classification. (Published with videosequences)
