scholarly journals Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report

2018 ◽  
Vol 6 ◽  
pp. 2050313X1877212 ◽  
Author(s):  
James Kiberd ◽  
Laura Finlayson
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Laboratory Investigation ◽  
Pediatric Population ◽  
Dorsal Surface ◽  
Sun Exposure ◽  
Inherited Disease ◽  
Erythropoietic Protoporphyria ◽  
Photosensitivity Reaction ◽  
Delayed Reactions

Erythropoietic protoporphyria (EPP) is a genetically inherited disease that causes protoporphyrin accumulation in erythrocytes, skin, liver, bile, and stool. Clinically this manifests as photosensitivity with painful, edematous cutaneous porphyria. We present the case of a four-year-old boy with a delayed photosensitivity reaction to sunlight. In the evening following sun exposure, he would develop swelling and a violaceous rash on the dorsal surface of his hands and occasionally the helix of his ears. His reactions were severe, requiring morphine on more than one occasion prior to diagnosis. He later developed waxy depressed scars on his nose and cheeks. On laboratory investigation, both total and free protoporphyrin were elevated. Photosensitivity in EPP usually occurs minutes after sun exposure, but our patient had significantly delayed reactions. Genetic testing revealed mutation in the FECH gene that confirmed the diagnosis of EPP. Although rare, presentations of photosensitivity in the pediatric population should be carefully evaluated.

Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report

2010 ◽  
Vol 16 (1) ◽  
pp. 83 ◽  
Author(s):  
Dong-Jun Yoo ◽  
Han Chu Lee ◽  
Eunsil Yu ◽  
Young-Joo Jin ◽  
Ju-Hyun Shim ◽  
...  
Keyword(s):  
Case Report ◽  
Hepatic Disease ◽  
Erythropoietic Protoporphyria

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals Is it always Wilms’ tumor? Localized cystic disease of the kidney in an infant. An extremely rare case report and review of the literature

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Christos Kaselas ◽  
Charikleia Demiri ◽  
Vasilios Mouravas ◽  
Eleni Koutra ◽  
Kleanthis Anastasiadis ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Wilms Tumor ◽  
Pediatric Population ◽  
Benign Disease ◽  
Cystic Disease ◽  
Proper Treatment ◽  
Review Of The Literature ◽  
Rare Case Report ◽  
Renal Malignancies

Localized Cystic Disease of the Kidney (LCDK) is an extremely rare benign disease in pediatric population. Although its management is conservative and generally requires no treatment, the unfamiliarity with the disease can expose such patients to misdiagnosis as renal malignancies or uncertainty for proper treatment. We report such a case in an infant and review the current literature.

scholarly journals Unifocal Granuloma of Femur due to Langerhans' Cell Histiocytosis: A Case Report and Review of the Literature

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Harpreet Singh ◽  
Satnam Kaur ◽  
P. Yuvarajan ◽  
Nishant Jain ◽  
Lalit Maini
Keyword(s):  
Case Report ◽  
Clinical Data ◽  
Case History ◽  
Langerhans Cell Histiocytosis ◽  
Eosinophilic Granuloma ◽  
Pediatric Population ◽  
Langerhans Cell ◽  
Long Bones ◽  
Review Of The Literature ◽  
Osteolytic Lesions

The radiological diagnosis of osteolytic lesions of the long bones in pediatric population constitutes a challenge when the case history and clinical data are uncharacteristic. We believe that the description of few clinically and histologically proven cases to verify the existence of radiological signs useful for diagnosis may be of interest. Here, we describe a case of Langerhans' cell histiocytosis (LCH) presenting as unifocal eosinophilic granuloma of femur along with a brief review of the literature.

Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth

2021 ◽  
Author(s):  
Cuiting Peng ◽  
Jun Ren ◽  
Yutong Li ◽  
Yuezhi Keqie ◽  
Fan Zhou ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Live Birth ◽  
Inherited Disease ◽  
Preimplantation Genetic Testing

STUDY OF CLINICAL CASES OF MYOCHE’S MYOPATHY AND DIFFERENTIAL DIAGNOSIS WITH OTHER TYPES OF ADVERSE MYOPATHIES

2021 ◽  
Author(s):  
K. Sarazhyna ◽  
Y. Solodovnikova ◽  
A. Son
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skeletal Muscles ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Lower Limbs ◽  
Molecular Genetic Testing ◽  
Membrane Repair ◽  
Rare Type ◽  
A Cell

Markesbery-Griggs myopathy, Miyoshi type (MM) is a rare type of myopathy, a form muscular dystrophy with the main involvement of the lower girdle and distal parts of the legs. Due to complexity of genetic testing, the diagnosis is mainly made on the neurological examination of the patient, which adds value to this case report. The childhood or adolescence onset of the disease is characterized initially by the calf muscles` wasting, accompanied by the severe elevation of the serum creatine kinase, as well as a slowly progressive ascending course. The disease refers to dysferlinopathies with various mutations in the DYSF gene. The dysferlin protein is localized in the plasma membrane and in the T-tubule system of skeletal muscles. Physiologically, skeletal muscles are constantly exposed to micromembrane lesions. Depending on the severity, these damages are restored using various complexes. One of the main reparative complexes is the dysferlin-dependent mechanism. Mutations can lead to a defect in the membrane repair, causing the influx of Ca 2+ into the cell, which leads to a cell`s destruction. There are three genetically identifiable types of Miyoshi myopathy: MMD1, MMD2, MMD3. The main clinical signs of the disease are the muscle weakness and atrophy, with predominant involvement of the distal parts of the lower limbs, especially in the gastrocnemius and plantar muscles. The MM causes tip toe walking disturbances and difficulties in climbing the stairs. Progression of the disease and further atrophy leads to the wasting of the lower girdle muscles, mainly gluteal ones. Peculiarity of these myopathies is the absence of cardiomyopathy, due to the immunity of cardiomyocytes to a deficiency of the protein dysferelin. Diagnosis is made on the basis of muscle biopsy and molecular genetic testing. The gold standard is immunoblotting or immunohistochemistry. One of treatment methods is the use of improperly folded dysferlin (treatment with a proteasome inhibitor MG-132) in fibroblasts with restoration of membrane sealing. The aim of this case report is to present an example of a possible clinical diagnosis of MM in a young man, in the absence of opportunities for molecular genetic testing.

An occult ectopic parathyroid adenoma in a pediatric patient: a case report and management algorithm

2017 ◽  
Vol 30 (9) ◽  
Author(s):  
Brent D. Bauman ◽  
Maria Evasovich ◽  
Amanda Louiselle ◽  
Eugene Zheng ◽  
Kevin Goodwin ◽  
...  
Keyword(s):  
Case Report ◽  
Parathyroid Adenoma ◽  
Pediatric Patient ◽  
Pediatric Population ◽  
Preoperative Imaging ◽  
Management Algorithm ◽  
Postoperative Mri ◽  
Complex Patients ◽  
Multiple Imaging ◽  
Parathyroid Adenomas

AbstractBackground:Hyperparathyroidism (HPT) is a rare disease in the pediatric population, and optimal management may be unclear if it is due to an occult parathyroid adenoma. We present a case report of a pediatric patient with an occult, ectopic, supernumerary, parathyroid adenoma.Case presentation:A 13-year-old female who initially presented with anxiety was diagnosed with HPT. Preoperative imaging and bilateral neck exploration with four-gland biopsy were negative for any parathyroid adenoma. Postoperative MRI identified a thymic mass. She subsequently underwent video-assisted thoracoscopic thymectomy with resection of an intrathymic parathyroid adenoma.Conclusions:The diagnosis of pediatric HPT is increasing. Supernumerary or occult parathyroid adenomas are rare and add complexity to presurgical planning and management. Our case represents the rare occurrence of a pediatric ectopic supernumerary occult parathyroid adenoma treated with a two-stage approach utilizing multiple imaging studies. We provide a review of the pathology and propose an algorithmic approach to manage these complex patients.

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