Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The cardinal features of McKusick-Kaufman syndrome (MKS) are polydactyly and hydrometrocolpos. Sometimes, this abdominopelvic mass may restrict pulmonary function and decrease the oxygenation of the newborn. We present a case of MKS and review the clinical features and appropriate anaesthetic management. A 45-day-old girl, weighing 4450 g, born at term, presented to our Paediatric Surgery Department with abdominal distention, diarrhoea and vomiting, which started on the 15th day of life. On physical examination, peripheral cyanosis, tachycardia and tachypnoea were found. A prominent mass was palpated in the lower abdomen. There was vaginal atresia and a sixth digit was found on her left foot. There was a large cystic mass extending from the pelvis to the level of L1 displacing the diaphragm, and bilateral hydroureteronephrosis were seen on plain abdominal X-ray, ultrasonography and computerized tomography. In the preanaesthetic assessment, the patient was evaluated for multiple congenital anomalies. Our management of anaesthesia, for a neonate with severe hydrometrocolpos compressing the diaphragm, consisted of gastric decompression and preoxygenation before tracheal intubation, routine and airway pressure monitoring, periodic analyses of blood gases and maintenance of anaesthesia with a low concentration of volatile agent, together with an opioid.
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PMID:Anaesthetic management in McKusick-Kaufman syndrome. 1256 91

Pseudohypoaldosteronism (PHA) due to obstructive uropathy, urinary tract infections and congenital urogenital malformations has been reported in the literature; however, there are no reports of PHA associated with hydrometrocolpos due to a common urogenital tract. Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. We report on a neonatal case of PHA caused by recurrent hydrometrocolpos presenting with vomiting and poor weight gain. There was significant hyponatraemia, hyperkalaemia, and anaemia requiring medical stabilisation prior to surgery. The mechanism by which PHA occurs in obstruction involves renal tubular dysfunction due to pressure from hydronephrosis and the release of intrarenal cytokines. In addition, there is an immature or resistant renal tubular responsiveness to aldosterone during infancy. Clinicians should be aware of this uncommon but serious presentation.
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PMID:Rare case of pseudohypoaldosteronism in a neonate secondary to congenital hydrometrocolpos. 3259 15