Acute Intermittent Porphyria: A Rare Inborn Error of Haem Metabolism

2014 ◽  
Vol 25 (2) ◽  
pp. 93-95
Author(s):  
Md Ferdous ◽  
Abu Syeed ◽  
Md Gofranul Hoque
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Abdominal Pain ◽  
Inborn Error ◽  
Acute Intermittent Porphyria ◽  
Recurrent Abdominal Pain ◽  
Neurological Damage ◽  
Central Nervous System Dysfunction ◽  
Medicine Today ◽  
Rare Inborn Error

A 22 year young boy presented with recurrent abdominal pain, generalized weakness & wasting with hypertension in Medicine ward CMCH. Subsequently he was diagnosed as a case of Acute Intermittent Porphyria (AIP). Though not common, any patient with unexplained abdominal crisis specially young with any peripheral or central nervous system dysfunction should raise the clinician's suspicion of being porphyric patient as prompt management can relieve the patient from progressive neurological damage and disability. DOI: http://dx.doi.org/10.3329/medtoday.v25i2.17929 Medicine Today 2013 Vol.25(2): 93-95

The case of recurrent abdominal pain in a girl

2013 ◽  
Vol 4 (4) ◽  
pp. 93-95
Author(s):  
Dmitry Vladimirovich Pechkurov ◽  
Evgeniya Nikolayevna Voronina ◽  
Yuliya Evgenyevna Allenova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Abdominal Pain ◽  
Rare Disease ◽  
Surgical Procedures ◽  
Acute Intermittent Porphyria ◽  
Recurrent Abdominal Pain ◽  
Dominant Type ◽  
Different Parts

Abdominal pain is often occur in practice of the pediatrician and gastroenterologist. Recurrent, intense, intractable abdominal pain for several years should be a symptom of anxiety. In this article, we present a case of long-term recurrent abdominal pain in a girl, accompanied by neurological symptoms, as a symptom of a rare disease - acute intermittent porphyria. Acute intermittent porphyria - inherited by dominant type disease characterized by lesions of the peripheral and central nervous system, the most frequent symptom of which is pain in the abdomen. Abdominal pain with this disease are recurrent paroxysmal and may be localized in different parts of the stomach, leading to the setting false diagnoses, multiple hospitalizations and unjustified surgical procedures.

scholarly journals Severe Gastrooesophageal Reflux Disease Associated with Foetal Alcohol Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
N. K. Sujay ◽  
Matthew Jones ◽  
Emma Whittle ◽  
Helen Murphy ◽  
Marcus K. H. Auth
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Gastrointestinal Tract ◽  
Reflux Disease ◽  
Prenatal Alcohol Exposure ◽  
Case Reports ◽  
Alcohol Exposure ◽  
Central Nervous System Dysfunction ◽  
Foetal Alcohol Syndrome ◽  
Gastrooesophageal Reflux

Prenatal alcohol exposure may have adverse effects on the developing foetus resulting in significant growth restriction, characteristic craniofacial features, and central nervous system dysfunction. The toxic effects of alcohol on the developing brain are well recognised. However, little is known about the effects of alcohol on the developing gastrointestinal tract or their mechanism. There are few case reports showing an association between foetal alcohol syndrome and gastrointestinal neuropathy. We report a rare association between foetal alcohol syndrome and severe gastrooesophageal reflux disease in an infant who ultimately required fundoplication to optimise her growth and nutrition. The child had failed to respond to maximal medical treatment (domperidone and omeprazole), high calorie feeds, PEG feeding, or total parenteral nutrition. The effect of alcohol on the developing foetus is not limited to the central nervous system but also can have varied and devastating effects on the gastrointestinal tract.

INFLUENZA-ASSOCIATED CENTRAL NERVOUS SYSTEM DYSFUNCTION IN TAIWANESE CHILDREN

2009 ◽  
Vol 28 (7) ◽  
pp. 647-648 ◽  
Author(s):  
Yhu-Chering Huang ◽  
Wen-Chen Li ◽  
Kuo-Chien Tsao ◽  
Chung-Guei Huang ◽  
Cheng-Hsun Chiu ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Dysfunction

scholarly journals Frequent Abdominal Pain in Childhood and Youth: A Systematic Review of Psychophysiological Characteristics

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Marco Daniel Gulewitsch ◽  
Judith Müller ◽  
Paul Enck ◽  
Katja Weimer ◽  
Juliane Schwille-Kiuntke ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Abdominal Pain ◽  
Endocrine System ◽  
Gastrointestinal Disorder ◽  
Autonomous Nervous System ◽  
Journal Articles ◽  
Childhood And Youth ◽  
Endocrine Parameters ◽  
The Central Nervous System

Background. Frequent abdominal pain (AP) in children and adolescents is often designated as functional gastrointestinal disorder. In contrast to research on psychological and social influences on the experience of AP in this population, psychophysiological features such as function of the autonomic nervous system, the central nervous system, or the endocrine system have rarely been studied.Methods. We conducted a systematic literature search for peer-reviewed journal articles referring to children with AP between 4 and 18 years. Studies on experimental baseline characteristics or reactivity of psychophysiological outcome parameters (autonomous nervous system, central nervous system, and endocrine parameters) were included.Key Results. Twelve of 18 included studies found psychophysiological differences between children with AP and healthy ones. These studies indicate a possible autonomic dysregulation and hypersensitivity of the central nervous system in children with AP following stimulation with stress or other intense stimuli. Mainly conflicting results were found regarding baseline comparisons of autonomic and endocrine parameters.Conclusions and Inferences. Frequent AP in children may be associated with an altered psychophysiological reaction on intense stimuli. It has to be considered that the current literature on psychophysiological characteristics of childhood AP is small and heterogeneous. In particular, multiparameter studies using validated experimental paradigms are lacking.

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