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)

The author presents a four-year-old boy with Pelizaeus-Merzbacher disease who required anaesthesia during placement of PE (pressure equalization) tubes and a permanent silastic intravascular device (Broviac catheter). Pelizaeus-Merzbacher is one of a group of progressive, degenerative disorders of the cerebral white matter known as the leukodystrophies. They include metachromatic leukodystrophy, adrenoleukodystrophy, Krabbe's disease, Canavan's disease, Alexander's disease and Pelizaeus-Merzbacher disease. Due to the progressive nature of the disorders and their devastating effects on the central nervous system, these children frequently require anaesthesia during imaging procedures such as MRI or during various surgical procedures. Of concern to the anaesthetist is the high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, and airway complications related to poor pharyngeal muscle control and copious oral secretions. In addition, adrenal involvement and hypofunction may be seen in patients with adrenoleukodystrophy. Identification of these associated conditions during the preoperative examination will allow safe anaesthesia for these children.
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PMID:Anaesthetic considerations for the child with leukodystrophy. 156 64

Eighty-eight specimens of esophagus, small intestine, or colon from 45 patients, predominantly infants and children, with 30 different genetic diseases were analyzed by a microdissection technique for the following abnormalities of the Auerbach (myenteric) plexus: (1) abnormality of the pattern of the nervous network of the plexus, (2) abnormal fraction of neural tissue in the plane of the plexus, (3) abnormal size or appearance of the cytoplasm of the neurons of the plexus, and (4) abnormal number of neurons in the ganglia of the plexus. Seven of 8 specimens of esophagus from patients with neuronal storage diseases (infantile Niemann-Pick disease, Jansky-Bielschowsky disease, etc.) showed an increased fraction of neural tissue in the plane of the plexus, whereas 2 of 3 patients with Cockayne syndrome showed a reduced fraction, with abnormally slender interganglionic fibers. The fraction of neural tissue in the plane of the plexus was also abnormal at one or more levels in patients with adrenoleukodystrophy, ataxia telangiectasia, Krabbe disease, and juvenile metachromatic leukodystrophy. Abnormality of neuron size and cytology was seen in several neuronal lipidoses, including Jansky-Bielschowsky and Sandhoff diseases and juvenile GM2 gangliosidosis, with the most striking neuronal enlargement noted in infantile Niemann-Pick disease. Abnormalities of plexus mass or pattern, as well as those of neuronal cytoplasm and neuron number, offer improved insight into possible mechanisms producing gastrointestinal tract dysfunction (swallowing difficulty, gastroesophageal reflux, constipation, etc) in patients with genetic disorders.
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PMID:Demonstration of myenteric plexus abnormalities in genetic diseases by a microdissection technique: preliminary studies. 313 Aug 68

Krabbe's disease is characterized by normal neonatal development with subsequent regression and profound, medically intractable irritability. Two female infants presented at 5 months of age with increasing irritability, abnormal motor control, and developmental regression. Investigations confirmed the diagnosis of Krabbe's disease. Maximal treatment of gastroesophageal reflux and nitrazepam 0.1 mg/kg by mouth three times daily were unsuccessful in controlling irritability. Morphine was initiated and titrated to 0.06 mg/kg by mouth every 6 hours in Patient 1 and 0.1 mg/kg by mouth every 8 hours in Patient 2, resulting in remarkably successful control of irritability. The diagnosis of Krabbe's disease is devastating for families and is compounded by the marked irritability. Management is difficult, but in these two infants, irritability was successfully controlled with low-dose morphine.
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PMID:Irritability in Krabbe's disease: dramatic response to low-dose morphine. 1170 8