Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Because nonepileptic disorders may cause episodic and paroxysmal symptoms that resemble epilepsy, these conditions and syndromes must be considered in the differential diagnosis or when antiepileptic drugs are ineffective. Gastroesophageal reflux usually presents as recurrent vomiting in infants and young children. A small subgroup of infants develop apnea and cyanosis accompanied by posturing of the limbs, deviation of the eyes, or opisthotonos, which leads to the incorrect diagnosis of epilepsy. Breathholding spells and pallid infantile syncope, common in infants and young children, may also be mistaken for epileptic attacks. The parasomnias, including pavor nocturnus and somnambulism, are frequently mistaken for epilepsy, since these nocturnal episodes are paroxysmal in nature, may be associated with automatic behavioral mannerisms, and tend to be recurrent. Migraine is especially difficult to differentiate from epilepsy because its manifestations, particularly in children, are so diverse. Other disorders that may superficially mimic epilepsy include transient ischemic attacks, syncope, and transient global amnesia.
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PMID:Differential diagnosis of episodic symptoms. 661 95

Sophia is a 3-year-old girl who was brought to her pediatrician by her parents who were concerned about inconsolable night-time awakening. Her mother indicated that she has frequent (>6), early nocturnal awakenings accompanied by screaming and crying lasting up to 1 hour since her birth. These episodes increased in intensity and frequency in the past year since the birth of her brother. With a bedtime routine (a cup of water by bedside with a washcloth and touching mother's nose, chin, and cheeks), Sophia falls asleep easily; however, within 1 hour she awakes screaming and flailing unaware of her surroundings and unable to be comforted. There are no tonic-clonic movements. Prior interventions, including a sleep coach and "letting Sophia cry it out," did not change her sleep pattern. Sophia's mother reports that she needs to be on a specific daily routine including set times for awakening, activity, snacks, naps, and meals. Diversion from the routine and separation from her mother results in a tantrum (kicking, hitting, screaming, and inconsolability) often lasting more than 30 minutes. Sophia was born after an uncomplicated 37-week gestation. Neonatal hyperbilirubinemia required readmission for 24 hours of phototherapy; serum bilirubin levels were performed daily for 3 weeks after discharge. At 6 weeks, daily episodes of screaming, inconsolability, forceful vomiting, and inability to sleep led to a diagnosis of gastroesophageal reflux. Medication trials were not successful, but the symptoms resolved by 5 months. Formula intolerance and difficulty swallowing and chewing different textures of solid food occurred in the first year. Occupational therapy was of "no benefit"; Sophia was overwhelmed by the activity and took a long time to warm up to the therapist. Her texture aversion resolved by 2 years of age. She prefers one-on-one play and has minimal interactions with other children. She has met all her developmental milestones appropriately and has no other health issues. Sophia lives with her parents and infant brother. There is a maternal family history of insomnia and sleep walking and a paternal history of sleep walking. Her mother adheres to a strict daily schedule. Sleep deprivation, different parental child-rearing practices, social isolation, and lack of quality parent time were all identified by the mother as significant marital stressors. During the office visit, Sophia required 30 minutes to warm up and smile, and over 60 minutes before she spoke her first word. Physical examination was normal (including growth measurements) and the developmental examination was age-appropriate. Upon completion of the assessment, she was engaging, playful, and cooperative with the pediatrician.
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PMID:Inconsolable night-time awakening: beyond night terrors. 2041 81