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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 27 year-old man with intellectual disability and no prior history of seizures who presented with episodes of abdominal pain, head/eye version and unresponsiveness that were misdiagnosed and treated as partial seizures. Associated vomiting and haematemesis led to the correct diagnosis and treatment of reflux oesophagitis. The episodes immediately resolved and a diagnosis of Sandifer syndrome was made. This is only the second report of Sandifer syndrome in adult, a movement disorder of unknown mechanism that occurs almost exclusively in young children, often misdiagnosed as epilepsy or episodic dystonia. (Published with videosequences).
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PMID:Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. 1507 69

Aberrant smooth muscle dystonia during hemolytic episodes in paroxysmal nocturnal hemoglobinuria (PNH) is implicated in the symptoms of abdominal pain, dysphagia and erectile dysfunction. Here we report two PNH patients treated with the complement inhibitor, eculizumab. Complement inhibition has been sustained for over 2 years and results in resolution of intravascular hemolysis and amelioration of symptoms associated with smooth muscle contractions.
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PMID:Improvement in the symptoms of smooth muscle dystonia during eculizumab therapy in paroxysmal nocturnal hemoglobinuria. 1646 55

This review focuses on so-called "periodic syndromes of childhood that are precursors to migraine," as included in the second edition of the International Classification of Headache Disorders. Presentation is characterized by an episodic pattern and intervals of complete health. Benign paroxysmal torticollis is characterized by recurrent episodes of head tilt, secondary to cervical dystonia, with onset between ages 2-8 months. Benign paroxysmal vertigo presents as sudden attacks of vertigo lasting seconds to minutes, accompanied by an inability to stand without support, between ages 2-4 years. Cyclic vomiting syndrome is distinguished by its unique intensity of vomiting, affecting quality of life, whereas abdominal migraine presents as episodic abdominal pain occurring in the absence of headache. Their mean ages of onset are 5 and 7 years, respectively. Diagnostic criteria and appropriate evaluation represent the key issues. Therapeutic recommendations include reassurance, lifestyle changes, and prophylactic as well as acute antimigraine therapy.
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PMID:Childhood periodic syndromes. 2000 56

This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis is entertained after exhaustive evaluations have proved unrevealing. The recommended diagnostic approach uses a strategy of targeted testing, which may include gastrointestinal and metabolic evaluations. Therapeutic recommendations include reassurance, both of the child and parents, lifestyle changes, prophylactic therapy (e.g., cyproheptadine in children 5 years or younger and amitriptyline for those older than 5 years), and acute therapy (e.g., triptans, as abortive therapy, and 10% glucose and ondansetron for those requiring intravenous hydration).
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PMID:[Childhood periodic syndromes]. 2044 66

Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA1A gene is a large gene containing 47 exons and there is no hot spot mutation, direct sequencing will be a challenge in clinical genetic testing. In this study, we used next generation sequencing technology to identify a novel nonsense mutation of CACNA1A (p.Tyr1957Ter, NP_001120693.1) resulting in truncated protein without 305 amino acids in the c-terminus. Sanger sequencing confirmed the heterozygous mutation of CACNA1A in a Chinese family with 11 affected individuals. Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. This is the first report of EA2 in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2.
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PMID:Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 2344 Nov 82

Right lower quadrant pain is one of the most common symptoms of the emergency patients. For accurate diagnosis and treatment; the patients must be questioned and examined very well. Also accompanying conditions due to right lower quadrant pain may be noticed. In this case presentation, we discussed a patient who was presented with right lower quadrant pain and cervical dystonia. By limiting the usage of metoclopramide the patient was followed seamlessly. In this case presentation we want to accentuate that a patient who with abdominal pain may be presented with rare symptoms such of dystonia. In such conditions a detailed anamnesis and physical examination are the first steps of the evaluation to prevent potential hazardous outcomes. In particular, a surgeon must be always carefully while taking history and examining the patient.
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PMID:Acute nontraumatic torticollis in a patient with right lower quadrant pain: case report. 2644 13

Cannabinoid hyperemesis syndrome (CHS) is an underrecognized diagnosis among adolescents. In the adult literature, it is characterized as nausea, vomiting, and abdominal pain in patients with chronic marijuana use. CHS is often refractory to the standard treatment of nausea and vomiting. Unconventional antiemetics, such as haloperidol, have been successful in alleviating symptoms; however, even 1 dose of haloperidol can lead to grave adverse effects, such as dystonia, extrapyramidal reactions, and neuroleptic malignant syndrome. The use of topical capsaicin cream to treat CHS has been well described in the adult literature. This treatment is cost-effective and is associated with few serious side effects. Here, we describe 2 adolescent patients with nausea, vomiting, and abdominal pain in the setting of chronic cannabis use whose symptoms were not relieved by standard antiemetic therapies, but who responded well to topical capsaicin administration in our pediatric emergency department. We also discuss the pathophysiology behind capsaicin's efficacy. These are the first reported cases in which capsaicin was successfully used to treat CHS in pediatric patients.
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PMID:Capsaicin Cream for Treatment of Cannabinoid Hyperemesis Syndrome in Adolescents: A Case Series. 2912 73