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)

X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2 girls) referred to a tertiary pediatric neuromuscular clinic for isolated elevated creatine kinase levels (range: 720-7000 IU/L) identified on initial assessment for otherwise unexplained transaminase elevations (n = 2), a social communication disorder (n = 3), and exertional myalgia and/or rhabdomyolysis (n = 1). There was no preceding family history of neuromuscular disease. One boy had an additional history of severe cerebral palsy and cyclical vomiting, and 1 girl had a history of maternal hepatitis C. There was no significant weakness at presentation, and the majority remained stable over a prolonged period of follow-up (age range at last follow-up: 9-16 years). All 6 children were found to carry dystrophin gene mutations resulting in milder phenotypes. This series highlights that dystrophinopathies may not uncommonly present with features distinct from the classic Duchenne muscular dystrophy and Becker muscular dystrophy phenotypes in both boys and girls. Pediatricians should be aware of such atypical presentations to initiate a timely and adequate diagnostic process. Establishing the correct genetic diagnosis of a dystrophinopathy is important to allow appropriate genetic counseling, to implement relevant surveillance and management strategies, and to avoid unnecessary investigations in search of an incorrect alternative diagnosis.
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PMID:Unusual Presentations of Dystrophinopathies in Childhood. 2961 Jan 82

Constipation can cause transient malfunction of the ventriculoperitoneal shunt (VPS). Patients with myelomeningocele or cerebral palsy are often diagnosed with hydrocephalus and constipation due to neurogenic bowel. These patients are more prone to VPS dysfunction, often requiring surgical revision. The authors report the case of a 6-year-old girl with a VPS that had been implanted due to hydrocephalus secondary to myelomeningocele. The patient was brought to the emergency department with intermittent headache, vomiting, constipation, and abdominal distension and pain. A CT scan revealed ventricular dilatation and radiography of the abdomen showed bowel loop distension. After a Fleet enema and digital maneuvers, her abdominal distension and symptoms improved. A CT scan obtained 24 hours later showed a reduction in ventricular size. The mechanism by which constipation can lead to VPS malfunction can be traced to indirect increases of intraabdominal pressure and direct obstruction of the catheter by distended intestinal loops. Treating constipation can restore the free circulation of the CSF and avoid surgical intervention. Careful neurological monitoring of these patients is essential, because some measures used to treat constipation can increase intracranial pressure. The objective of this report was to highlight constipation as a possible cause of transient VPS malfunction, thereby avoiding unnecessary surgical revisions, to which children with hydrocephalus are frequently submitted.
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PMID:Reversible ventriculoperitoneal shunt dysfunction and chronic constipation: case report. 2974 81

Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume that children will be diagnosed in their first months of life. However, certain IEMs present more insidiously, and occasionally children fail to receive newborn screening resulting in delayed diagnoses, as metabolic and genetic disorders are overlooked causes of cognitive and neurologic deficits. Although signs and symptoms may be present but subtle, careful and detailed history taking, particularly of a child's diet and neurologic medical history, in addition to certain physical examination findings may suggest a diagnosis that is later supported by laboratory and radiographic testing. We present the case of an 11-year-old girl who presented with a diagnosis of cerebral palsy, seizure disorder, and concerns of fatigue and increasing seizure frequency. During hospitalization, she was found to have hyperammonemia, and a diagnosis of arginase deficiency was made. More thorough review of her previous records may have raised suspicion for IEM earlier.
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PMID:"Cerebral Palsy" in a Patient With Arginase Deficiency. 2996 98


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