A very rare syndrome characterized mainly by mental retardation, epilepsy and a bulbous nose. The condition has been reported in only two families.
* Round face * Bulbous nose * Wide mouth * Prominent upper lip groove * Flat foot * Psychomotor retardation * Mental retardation * Epilepsy * Obesity * Low set ears * Delayed puberty
* In persons with mental retardation, the diagnosis of epilepsy presents unique difficulties. The patients generally are not able to describe the epileptic events, and the physician or someone trained in epilepsy observe the events only rarely. The clinical manifestations often are observed by people (eg, teachers, parents) who are not familiar with epileptic disorders. * Patients with mental retardation frequently present with behaviors that resemble epilepsy. Examples include the following: o Generalized tonic extension crisis in children with severe spasticity, resembling generalized tonic seizures, is observed frequently in response to external stimuli. o Gastroesophageal reflux might produce generalized tonic extension (Sandifer syndrome) in some cases. o In children with severe quadriplegia, a similar clinical response can be seen as a consequence of chronic constipation or pain. * Episodes of unresponsiveness frequently are seen in individuals with mental retardation. The patient's behaviors closely resemble absence seizures, ie, the patient is very quiet with the eyes fixed, no expression on the face, and slow responses. * Stereotyped movements (eg, nodding the head, odd hand postures, complex mannerisms, rocking, spinning, waving or flapping hands) are also a potential cause of misdiagnosis. * A source of confusion is the frequent association of mental retardation and psychiatric disorders. Self-injurious behavior is common in children who already have an active epileptic disorder. These cases often are referred to the neurologist to rule out seizures of frontal or temporal origin. * Patients with mental retardation often take psychotropic medications, and some of the adverse effects, such as oculogyric crisis and dystonias, can be confused with epileptic events. Psychotropic medications might decrease the threshold for epileptic seizures, but this is not a contraindication for the use of these drugs in individuals with epileptic seizures and psychiatric disorders when these medications are indicated. * Suddenly discontinuing antiepileptic medications might be associated with withdrawal seizures. * In the few studies that evaluated the presence of pseudoseizures in people with mental retardation, 20-30% of individuals who were referred for evaluation of epilepsy had behaviors that resembled seizures but did not have an epileptic origin. The most common behaviors that were mistaken for epileptic seizures were myoclonus, absence spells, temper tantrums, and aggressive behaviors. * Nonepileptic seizures (pseudoseizures) should always be considered in any individual with drug-resistant epileptic behaviors. In many instances, these behaviors are not epileptic in origin, and the use of antiepileptic medications does not help to control them but does add more side effects. The presence of an active epileptic disorder does not rule out the presence of nonepileptic events because they are frequently seen together. It these cases, it is important to diagnose the nonepileptic events as such in order to avoid unnecessary polypharmacy.
Nerve Specialists: * Neuromusculoskeletal Medicine * Neurology (Brain/CNS Specialists) * Pediatric Neurology (Child Brain Specialist) * Spinal Cord Injury Medicine Mental Health Specialists: * Psychiatry (Mental Health) * Addiction Psychiatry * Geriatric Psychiatry (Seniors Mental Health) * Pediatric / Adolescent Psychiatry (Child/Teen Mental Health) * Pediatric Developmental Behavioral Health (Child Behavior Specialist) * Psychosomatic Medicine * Forensic Psychiatry