Fructose-1,6-Bisphosphatase Deficiency: A Pediatric Case Report

2021 ◽  
Author(s):  
jiaying cao ◽  
lu xu ◽  
jiahua pan
Keyword(s):  
Case Report ◽  
Glucose Metabolism ◽  
Compound Heterozygote ◽  
Metabolic Decompensation ◽  
Pediatric Case ◽  
Case Presentation ◽  
Fructose 1,6 Bisphosphatase ◽  
Chromosome 9Q22 ◽  
Bisphosphatase Deficiency

Abstract Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare disorder of glucose metabolism, mainly revealed by hypoglycemia and lactic acidosis. The disease is caused by a mutation of FBP1 gene, which is clustered in a 31-kb region on chromosome 9q22. Case presentation: We described a two-and-half-year-old boy diagnosed as FBPase deficiency. The result of gene analysis showed that the patient had a compound heterozygote for the G164S and P308R, respectively inherited from his father and mother. To some degree, mutations are associated with activity of enzyme, which is corresponding to the level of glucose and extent of brain damage. Patients are advised to reduce intake of fructose and sucrose and avoid long-term fasting in order to reduce the risk of metabolic decompensation. Conclusions: This report would like to provide profound insights of FBPase deficiency.

scholarly journals Phenylketonuria and juvenile idiopathic arthritis: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ting Ting Zhu ◽  
Jin Wu ◽  
Li Yuan Wang ◽  
Xiao Mei Sun
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Case Report ◽  
Autoimmune Diseases ◽  
Hip Joint ◽  
Metabolic Disorder ◽  
Rare Case ◽  
Molecular Data ◽  
Methotrexate Therapy ◽  
Case Presentation

Abstract Background Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. Case presentation The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. Conclusions We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.

scholarly journals Penetrating Orbitocranial Injury With a Good Aesthetic and Functional Outcome: A Case Report

2021 ◽  
Vol 7 (1) ◽  
pp. 61-66
Author(s):  
Youssef Fahde ◽  
◽  
Davis Mpando ◽  
Mehdi Laghmari ◽  
Houssine Ghannane ◽  
...  
Keyword(s):  
Case Report ◽  
Multidisciplinary Approach ◽  
Violent Behavior ◽  
Case Presentation ◽  
Frontal Horn ◽  
Patient Reported ◽  
Long Term Follow Up ◽  
Life Threatening

Background and Importance: Transorbitocranial assaults with sharp objects like a knife are rare neuro-ophthalmologic emergencies. However, they can have dramatic functional and life-threatening consequences. Our presentation aims to report the importance of an urgent multidisciplinary approach and to raise awareness among the general population on the importance of preventing violent behavior. Case Presentation: A 33-year-old man was a victim of a knife attack without obvious brain or ophthalmological lesions. The knife entered the medial part of the orbit. Neurological examination was normal, and Computed Tomography (CT) scan showed intracranial trajectory through the orbit to the frontal horn of the lateral ventricle. The knife was extracted without complications. The patient reported spectacular improvement in visual acuity without neurological or oculomotor deficit at long-term follow-up. In this case report, we will discuss the radiological diagnosis and surgical management of transorbital and orbitocranial injuries by foreign body penetration. Conclusion: Urgent multidisciplinary management in orbitocranial trauma by stabbing is mandatory to avoid life-threatening complications and irreversible damages.

scholarly journals Combining Techniques to Treat Isolated Deep Recession-Type Defects: A Case Report with Long-Term Stability

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
João Carnio ◽  
Anna Tereza Carnio
Keyword(s):  
Case Report ◽  
Root Coverage ◽  
Case Presentation ◽  
Term Stability ◽  
Long Term Stability ◽  
Dental Procedures ◽  
Donor Area ◽  
Deep Recession

Introduction. The purpose of this case report was to show the clinical long-term stability of a successful two-step root coverage procedure. A combination of two single techniques was used to treat an isolated deep-wide defect. Case Presentation. A 28-year-old female patient was referred in order to treat a single recession defect at #22. Due to her fear of dental procedures and a poor economic situation, the team developed an alternative solution. They used a modified apically repositioned flap (MARF) to increase the donor area and then a laterally positioned flap (LPF) to treat the root defect. Clinical evaluation at the three-year follow-up revealed complete resolution of the defect, a gain in clinical attachment, excellent esthetic results, and minor morbidity to the patient. Conclusion. The combination of the MARF and the LPF procedures was able to successfully treat a single deep recession defect with some advantages over traditional techniques such as simplicity, ideal color match of tissues, and the absence of palatal donor tissue.

Early Recurrence of an Infantile Endodermal Oculomotor Nerve Cyst following Surgical Fenestration: A Case Report

2021 ◽  
Vol 56 (2) ◽  
pp. 157-162
Author(s):  
Victor M. Lu ◽  
Aditya Raghunathan ◽  
Michael J. Link ◽  
David J. Daniels
Keyword(s):  
Case Report ◽  
Surgical Intervention ◽  
Early Recurrence ◽  
Oculomotor Nerve ◽  
Rare Entity ◽  
Oculomotor Palsy ◽  
Case Presentation ◽  
Postoperative Course

Introduction: Infantile endodermal oculomotor nerve cyst (EONC) is an extremely rare entity. There are very few pediatric cases reported in the literature, and as expected, oculomotor palsy is the most common presenting symptom. To date however, the risk of recurrence of these lesions following surgical intervention is unclear due to a lack of long-term radiological follow-up. Case Presentation: We present a case of a 13-month-old male patient with an EONC and detail his surgical fenestration and postoperative course. Somewhat surprisingly, re-expansion occurred within 6 months and remained stable 2 years later. Discussion: A surgical approach to fenestration of an EONC in an infant is possible and should be performed by an expert neurosurgeon. Early recurrence is underreported in the current literature, and we encourage longer term radiological surveillance of these lesions after surgery to optimize primary and recurrent management in the future.

scholarly journals Long‐term recurrence and brain metastasis of nasopharyngeal carcinoma mimicking cystic radiation encephalopathy relapse: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xuhui Chen ◽  
Lijie Ren ◽  
Guozhen Qiu ◽  
Liming Cao
Keyword(s):  
Computed Tomography ◽  
Differential Diagnosis ◽  
Case Report ◽  
Nasopharyngeal Carcinoma ◽  
Brain Metastasis ◽  
Skull Base ◽  
Case Presentation ◽  
Radiation Encephalopathy ◽  
The Right

Abstract Background During medical imaging, cystic radiation encephalopathy and brain metastasis are difficult to differentiate, and hence they are easily misdiagnosed. To our knowledge, a nasopharyngeal carcinoma recurrence after more than seven years with cerebral metastasis that mimicked cystic radiation encephalopathy has not been reported. Case presentation A 52-year-old man was admitted to the hospital owing to weakness of the right limb for one month, which increased in intensity for three days. He had been diagnosed with nasopharyngeal carcinoma in 2011, which was treated by radiotherapy. The patient successively developed cystic radiation encephalopathy and brain metastasis from the nasopharyngeal carcinoma, which mimicked cystic radiation encephalopathy relapse. Left frontotemporal craniotomy, surgical resection of brain metastasis, and repair of the skull base and dura were performed. Postoperative computed tomography showed that midline deviation recovered, and brain edema was reduced. Conclusions This report is significant because brain metastasis from nasopharyngeal carcinoma can masquerade as a benign entity and cause fatal consequences. In patients presenting with cystic radiation encephalopathy, brain metastasis should be considered as a differential diagnosis.

scholarly journals Cast removable partial denture improving appearance and masticatory function - A case report

2013 ◽  
Vol 1 (1) ◽  
pp. 14-17
Author(s):  
Md Ali Afzal Khan ◽  
Aleya Begum ◽  
Md Nazmul Hasan ◽  
Newaz Mohsina ◽  
Md Mamunur Rahman Jahangir
Keyword(s):  
Case Report ◽  
Treatment Planning ◽  
Chief Complaint ◽  
Comprehensive Treatment ◽  
Long Term Outcomes ◽  
Removable Partial Denture ◽  
Partial Denture ◽  
Case Presentation ◽  
Short And Long Term

Dentists are disappointed after delivery of cast removable partial dentures because their patient refuses or is unable to wear the denture and the treatment is therefore deemed unsuccessful. When so many patients do not comply with treatment, it is instructive to reflect on why and how the treatment is performed. Appropriate, comprehensive treatment planning should precede and eliciting the patient's chief complaint, as well as his or her expectations of treatment before treatment planning. The case presentation provides for the practitioner to discuss the patient's expectations and to outline both favourable and unfavourable short and long term outcomes. By providing this information, the practitioner ensures that the patient is fully informed before giving consent and that he or she understands the associated benefits and risks. DOI: http://dx.doi.org/10.3329/updcj.v1i1.13948 Update Dent. Coll. j: 2011; 1 (1): 14-17

scholarly journals Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report

2020 ◽  
Author(s):  
Francesco Martino ◽  
Alessandra Magenta ◽  
Maria Letizia Troccoli ◽  
Eliana Martino ◽  
Concetta Torromeo ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Megaloblastic Anemia ◽  
Clinical Syndrome ◽  
Full Blood Count ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Case Presentation

Abstract Background: Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: <1/1000000) which clinically manifests in early infancy. Case presentation:We describe the case of a 30 year old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B12 metabolism. Family history revealed a sister who died at the age of 3 months with a similar clinical syndrome and with pancytopenia. She was started on empirical intramuscular (IM) cobalamin supplements (injections of hydroxocobalamin 1 mg/day for 1 week and then 1 mg twice a week) and several transfusions of washed and concentrated red blood cells.With these treatments a clear improvement in symptoms was observed, with the disappearance of vomiting, diarrhea and normalization of the full blood count. At 8 years of age injections were stopped for 3 months causing the reappearance of megaloblastic anemia. IM hydroxocobalamin was then restarted sine die. The definitive diagnosis could only be established at 29 years of age when a genetic evaluation revealed the homozygous c.1115_1116delCA mutation of TCN2 gene (p.Q373GfsX38).Currently she is a 30-year old healthy lady taking 1 mg of IM hydroxocobalamin once a week.Conclusions: Our case report highlights that early detection of TC deficiency and early initiation of aggressive IM treatment is likely associated with disease control and an overall favorable outcome.

scholarly journals Management of pleural empyema in a 12-year-old obese patient with COVID-19: a pediatric case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Reza Abbasi ◽  
Farnaz Sadat Javanmardi ◽  
Ahmad Mokhtari ◽  
Parisa Hosseinpour ◽  
Reza Shahriarirad ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Complication ◽  
Pleural Empyema ◽  
Pleural Drainage ◽  
Pediatric Case ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
History Of ◽  
Atypical Presentations ◽  
New Mutations

Abstract Background With the ongoing coronavirus disease (COVID-19) pandemic, along with the development of new mutations of the virus and an increase in the number of cases among pediatrics, physicians should be aware and alerted on the atypical presentations of the disease, especially in less expected individuals. Case presentation Here we present a 12-year-old obese boy (BMI = 37.5 kg/m2) who presented with empyema, which was following SARS-CoV-2 infection. The patient had no history of fever. Due to the onset of dyspnea, a chest tube was inserted for him which was later altered to a pleural drainage needle catheter. Conclusion Our case is the first report of COVID-19 presenting as empyema among pediatrics. Pleural empyema should be considered as a rare complication of COVID-19. Since there is still no guideline in the management of empyema in the context of COVID-19, delay in diagnosis and intervention may cause morbidity and mortality in children.

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