Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myotonic dystrophy in the neonate is commonly accompanied by facial diplegia, generalized muscular hypotonia, talipes equinovarus, and muscular respiratory failure. The gastrointestinal manifestations of this disease include poor sucking, choking, regurgitation, aspiration, and swallowing difficulties. Gastroparesis can be a major contributor to the feeding difficulties experienced by these infants. We report on an infant with congenital myotonic dystrophy in whom a severe gastric motility problem was alleviated by metoclopramide therapy. This smooth muscle manifestation may be an important and potentially remediable source of morbidity in these infants.
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PMID:Gastroparesis in neonatal myotonic dystrophy. 654 2

In the surgical treatment of gastric ulcer (G,U,), the same techniques have been employed as have been used in duodenal ulcer (D.U.). This correspondence also holds true with superselective vagotomy and proximal gastric vagotomy (P.G.V.). The technique was primarily indicated in the treatment of D.U. and had very exciting preliminary results, above all owing to its reduced morbidity both immediately and late after surgery, and to its almost null mortality. With a view to analyzing the results of the use of P.G.V. in the treatment of gastric ulcer, thirteen patients were operated upon who were bearers of G.U. not associated with D.U. nor prepyloric ulcer. There were no operating accidents or immediate post-operative complications, nor was there any mortality. In the post-operative period following lasting an average of 17.7 months, we observed the clinical manifestation of the ulcer and symptoms accompaning the operation in addition to performing endoscopy on all of the patients. Eight patients were absolutely asymptomatic after surgery; one had slight dysphagia that diminished about 3 months after P.G.V. Three patients had recurrence of the symptoms of ulcer and one complained of intense epigastric fullness, vomting, weight loss, and a crisis of diarrhea. Radiologic and endoscopic examinations showed that this last patient had hypotonia and marked gastric stasis that were corrected surgically by means of antrectomy and the reconstitution of GI tract by the BI technique, with good results. In three patients endoscopy showed postoperative recurrence of the G.U., one of whom is assymptomatic with the clinical treatment; the other two were submitted to antrectomy with BI anastomosis in one and a 2/3 gastrectomy with BI reconstruction in the other. The cure of the lesion in 23% of the cases in the post-operative follow-up lasting an average of 17.7 months permits us henceforward to contra-indicate the P.G.V. used per se for the treatment of G.U.
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PMID:[Critical analysis of the treatment of gastric ulcer by proximal gastric vagotomy]. 666 Oct 91

An 8-month old girl, weighing 9 kg, was brought by her parents at 8.15 am to the Emergency Department (ED) for a progressive worsening of weakness and acute respiratory failure. On admission, the baby presented with poor oral intake, a weak cry and extremely weak muscular body control. Poor gag and suck, unreactive mydriasis, hypotonia, lethargy and absence of peristalsis were noted. Laboratory data showed severe respiratory acidosis. Chest X-ray, electroencephalography, encephalic CT scan and MRI were all normal, as were cerebrospinal fluid analysis and viral tests. Orotracheal intubation and continuous mechanical ventilation were applied. The patient received fluids, corticosteroids, aerosol therapy, large-spectrum antibiotics and enteral-nutrition. Further investigation revealed ingestion of an improperly prepared home-canned homogenized turkey meal. Type A botulinum neurotoxin was identified. Trivalent botulinum antitoxin, prostigmine and oral activated charcoal were administered. Generalized flaccid paralysis, areflexic bilateral mydriasis, gastric stasis and deep coma persisted for the duration of the hospital stay, and the patient died of severe respiratory failure and cardiac arrest 12 days after ED admission. Botulism poisoning should be suspected in any infant presenting with feeding difficulties, constipation, descendent paralysis or acute respiratory failure. Supportive treatment and antidotal therapy should be performed as soon as a clinical diagnosis is made. We describe a case of foodborne botulism in an 8-month old infant caused by ingestion of an improperly prepared home-canned homogenized turkey meal, representing the youngest fatal case reported in medical literature.
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PMID:Fatal course of foodborne botulism in an eight-month old infant. 2235 16

BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation. CASE REPORT We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months. He presented with two episodes of a rapidly progressing gastric dilatation that led to abdominal hypertension and secondary shock at the age of 2 and 5. No large amount of food was eaten before any of the episodes, and he had abdominal pain and vomiting on both occasions. On arrival at the emergency room, a nasogastric tube was placed and aspiration of food material was performed. Abdominal X-ray and CT scan revealed massive gastric dilatation. He was admitted at the Pediatric Intensive Care Unit and after a variable period of fasting, tolerated oral intake and could be discharged. CONCLUSIONS Gastric dilatation due to gastroparesis in PWS is a rare complication. However, it is a life-threatening situation and physicians should therefore maintain a high level of suspicion for gastric dilatation when patients present with warning symptoms such as abdominal pain or discomfort and vomiting.
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PMID:Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome. 2858 53