scholarly journals Acute Intermittent Porphyria: A Report of 3 Cases with Neuropathy

2019 ◽  
Vol 11 (1) ◽  
pp. 32-36
Author(s):  
Mohammed Alqwaifly ◽  
Vera Bril ◽  
Dubravka Dodig
Keyword(s):  
Biosynthetic Pathway ◽  
Metabolic Disorders ◽  
Case Series ◽  
Acute Intermittent Porphyria ◽  
Genetic Mutation ◽  
Nerve Conduction Studies ◽  
Porphobilinogen Deaminase ◽  
Motor Neuropathy ◽  
Clinical Presentations ◽  
Associated Symptoms

The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP). Associated symptoms are abdominal pain and seizures. Three patients presenting with neuropathy were later diagnosed with AIP on the basis of clinical features, erythrocyte porphobilinogen deaminase activity, neuropathic patterns, and nerve conduction studies. Testing for the HMBS genetic mutation confirmed the diagnosis of AIP in 1 patient. The findings from this case series confirm that porphyric neuropathy in AIP is a predominantly motor neuropathy with differing neuropathic presentations ranging from focal motor neuropathy to quadriplegia and respiratory failure.

scholarly journals Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

2020 ◽  
Author(s):  
xiaoqing li ◽  
fei han ◽  
qianlong chen ◽  
tienan zhu ◽  
yongqiang zhao ◽  
...  
Keyword(s):  
Biosynthetic Pathway ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Novel Mutation ◽  
Acute Intermittent Porphyria ◽  
Porphobilinogen Deaminase ◽  
Autosomal Dominant Disorder ◽  
Splenial Lesion ◽  
Partial Deficiency ◽  
Reversible Splenial Lesion Syndrome

Abstract Background: Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopathy (MERS) with a reversible splenial lesion remains the most common cause of reversible splenial lesions. Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Result: In this study, we report a 20-year-old woman with AIP who presented with MRI manifestations suggestive of RESLES, she had a novel HMBS nonsense mutation, a G to A mutation in base 594, which changed tryptophan to a stop codon (W198*). Conclusion: To the best of our knowledge, this is only one published case of RELES associated with AIP.

scholarly journals Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Jing Yang ◽  
Qianlong Chen ◽  
Hang Yang ◽  
Baolai Hua ◽  
Tienan Zhu ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Acute Intermittent Porphyria ◽  
Sodium Concentration ◽  
Porphobilinogen Deaminase ◽  
Acute Porphyria ◽  
Tertiary Referral ◽  
Electrolyte Abnormality ◽  
Tertiary Referral Center ◽  
Laboratory Features ◽  
Precise Diagnosis

Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics of 36 Chinese acute porphyria patients. Most of them were female (33/36), and the median age was 25.3 years (range 18–45 years). The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion (p=0.00). Genetic testing provided a precise diagnosis of the patients. Genetic analysis of the porphobilinogen deaminase (PBGD) gene was performed for 10 subjects. Of them, 9 were found to harbor a mutation in the PBGD gene, proving a diagnosis of acute intermittent porphyria, and, in 1 case, a novel Cys209Term mutation was found.

scholarly journals Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
G. N. Cerbino ◽  
L. Abou Assali ◽  
L. S. Varela ◽  
L. Tomassi ◽  
A. Batlle ◽  
...  
Keyword(s):  
Biosynthetic Pathway ◽  
Metabolic Disorders ◽  
De Novo ◽  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Uroporphyrinogen Decarboxylase ◽  
History Of ◽  
Biochemical Testing ◽  
De Novo Variant ◽  
Deficient Activity

Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, caused by decreased activity of hydroxymethylbilane synthase (HMBS). An Argentinean man with a family history of PCT who carried the UROD variant c.10_11insA suffered severe abdominal pain. Biochemical testing was consistent with AIP, and molecular analysis of HMBS revealed a de novo variant: c.344 + 2_ + 5delTAAG. This is one of the few cases of porphyria identified with both UROD and HMBS mutations and the first confirmed case of porphyria with dual enzyme deficiencies in Argentina.

The Porphyrias

2016 ◽  
Author(s):  
Karl E Anderson ◽  
Attallah Kappas
Keyword(s):  
Biosynthetic Pathway ◽  
Aminolevulinic Acid ◽  
Clinical Symptoms ◽  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Genetic Traits ◽  
Molecular Defects ◽  
Clinical Presentations ◽  
Congenital Erythropoietic Porphyria ◽  
Hereditary Coproporphyria

The porphyrias are uncommon disorders caused by deficiencies in the activities of enzymes of the heme biosynthetic pathway. The enzymatic defects that cause porphyrias are inherited, with the exception of porphyria cutanea tarda, which is primarily acquired. In all porphyrias, there is significant interplay between genetic traits and acquired or environmental factors in the expression of clinical symptoms. This review discusses the classification, pathophysiology, and clinical presentations of the porphyrias. These include those associated with neurovisceral attacks (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase [alad] deficiency porphyria) and the porphyrias associated with cutaneous photosensitivity (porphyria cutanea tarda, hepatoerythropoietic porphyria, erythropoietic protoporphyria, and congenital erythropoietic porphyria). Specific emphasis on the epidemiology, molecular defects and pathophysiology, clinical features, diagnosis, and treatment are discussed for each of these disorders. A table lists the safe and unsafe drugs for patients with porphyrias. Figures illustrate the genetic pathways of the disorders and the activities of enzymes of the heme biosynthetic pathway. This review contains 2 highly rendered figures, 1 table, and 96 references.

Recombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria

2022 ◽  
Vol 14 (627) ◽  
Author(s):  
Karol M. Córdoba ◽  
Irantzu Serrano-Mendioroz ◽  
Daniel Jericó ◽  
María Merino ◽  
Lei Jiang ◽  
...  
Keyword(s):  
Mouse Model ◽  
Acute Intermittent Porphyria ◽  
Porphobilinogen Deaminase ◽  
Motor Neuropathy

Systemic and subcutaneous rApoAI-PBGD therapy protects against porphyrin precursor accumulation, pain, and motor neuropathy in AIP mice.

scholarly journals Acute Pancreatitis as a Complication of Antiepileptic Treatment: Case Series and Review of the Literature

2021 ◽  
Vol 13 (1) ◽  
pp. 98-103
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
Paulina Krawiec ◽  
Elżbieta Pac-Kożuchowska
Keyword(s):  
Valproic Acid ◽  
Acute Pancreatitis ◽  
Metabolic Disorders ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Gallstone Disease ◽  
Young Patients ◽  
Case Series ◽  
Review Of The Literature ◽  
Acid Therapy

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include typical clinical symptoms, abnormalities in laboratory tests and/or imaging studies of the pancreas. There are many known causes leading to AP in children including infections, blunt abdominal trauma, genetic factors, gallstone disease, metabolic disorders, anatomical defects of the pancreas, systemic diseases, as well as drugs, including antiepileptic drugs, and especially preparations of valproic acid. In our study, we present four cases of young patients diagnosed with acute pancreatitis as a complication of valproic acid therapy and we present a review of the literature. We believe that the activity of pancreatic enzymes should be monitored in children treated with valproate preparations in the case of clinical symptoms suggesting AP.

scholarly journals Case series on variable presentations of tuberculosis of the breast

2020 ◽  
Vol 13 (12) ◽  
pp. e236019
Author(s):  
Tharun Ganapathy Chitrambalam ◽  
Jeyakumar Sundaraj ◽  
Pradeep Joshua Christopher ◽  
Ramyasree Paladugu
Keyword(s):  
Clinical Presentation ◽  
Case Series ◽  
Common Type ◽  
Breast Abscess ◽  
Breast Lump ◽  
Clinical Presentations ◽  
Malignant Lesions

Tuberculosis (TB) of the breast is extremely rare and is often mistaken for benign or malignant lesions of the breast. They are rare even in countries which are endemic for TB, like India. The most common type of clinical presentation is a vague lump in the breast, but there are even other types of presentations which are documented. In olden days, there was a lot of dilemma and challenge in diagnosing TB of the breast, but thanks to improved pathological knowledge and the advent of investigations such as QuantiFERON-TB gold and GeneXpert, TB can be diagnosed early nowadays and treated accordingly. In this study series, we report 10 cases of TB of the breast with variable clinical presentations as fibroadenosis, breast abscess, duct ectasia and breast lump on evaluation, and the challenges encountered in establishing the diagnosis.

scholarly journals Acute abdomen in children due to different presentations of complicated Meckel’s diverticulum: a case series

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Hisham A. Almetaher ◽  
Mohammed Awad Mansour
Keyword(s):  
Congenital Abnormality ◽  
Wedge Resection ◽  
Meckel’S Diverticulum ◽  
Case Series ◽  
Postoperative Outcome ◽  
Meckel's Diverticulum ◽  
Gastrointestinal Disorders ◽  
Clinical Presentations ◽  
Life Threatening ◽  
Small Base

Abstract Background Meckel’s diverticulum (MD) is the commonest congenital abnormality of the gastrointestinal tract that occurs in 2% of general population. It remains asymptomatic, but it may lead to life-threatening complications. These complications may be misdiagnosed with other gastrointestinal disorders like acute appendicitis, making its diagnosis challenging among pediatricians and pediatric surgeons. In this study, we reported five cases with different presentations of complicated MD in children. Results Five patients with different presentations of MD were reported during the period from January 2016 to January 2020. Patients’ demographics, clinical presentations, investigations, operative data, and postoperative outcome were recorded and analyzed. Conclusions The present study highlights different presentations of MD. Surgical interference is the main key of treatment of symptomatic MD either by wedge resection of a small base diverticulum or by resection anastomosis of the small intestine in wide base and inflamed diverticulum.

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