Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Neslihan Doğulu ◽  
Ümmühan Öncül ◽  
Engin Köse ◽  
Zehra Aycan ◽  
Fatma Tuba Eminoğlu
Keyword(s):  
Diabetic Ketoacidosis ◽  
Pyruvate Carboxylase ◽  
Laboratory Findings ◽  
Case Presentation ◽  
First Case ◽  
Whole Exome ◽  
History Of ◽  
Type C ◽  
Deficiency Type ◽  
Level Analysis

Abstract Objectives Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients in literature to date. Herein, we present the case of a four-year-old patient admitted with diabetic ketoacidosis and diagnosed with type C PC deficiency based on clinical and biochemical findings. Case presentation A Turkish girl was referred to the intensive care unit at the age of three-years with a three-day history of vomiting and abdominal pain. Upon physical examination, the patient was found to be experiencing lethargy, dehydration, and Kussmaul breathing. Hyperglycemia, metabolic acidosis, and ketonemia were detected. Clinical and laboratory findings pointed to a prediagnosis of diabetic ketoacidosis. Intravenous fluid, bicarbonate, and insulin treatments were initiated. Elevated alanine and proline levels were recorded in plasma amino acid analysis, while urinary organic acid level analysis revealed increased lactate, pyruvate, 3-OH-butyrate, and acetoacetate levels. Whole exome sequencing revealed homozygous c.584C>T (p.Ala195Val) mutation in the PC gene. Conclusions To date, there have been no reports in literature of type C phenotype patients manifesting with DKA. Our case is the first case with the type C phenotype to be admitted with clinical and laboratory findings of DKA.

scholarly journals Euglycemic Diabetic Ketoacidosis after a Single Dose of Empagliflozin in a Patient with Pancreatitis

2021 ◽  
Vol 11 (2) ◽  
pp. 216-218
Author(s):  
Marta Brandão Calçada ◽  
Luís Fernandes ◽  
Rita Soares Costa ◽  
Sara Montezinho ◽  
Filipa Martins Duarte ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Diabetic Ketoacidosis ◽  
Drug Class ◽  
Clinical Suspicion ◽  
Laboratory Findings ◽  
Sodium Glucose Cotransporter ◽  
History Of ◽  
High Degree ◽  
Euglycemic Diabetic Ketoacidosis

Sodium-glucose cotransporter 2 inhibitors (SGLT2i) are the most recently approved drug class for the treatment of type 2 diabetes mellitus (T2D). Although they are largely well-tolerated, their intake has been associated with euglycemic diabetic ketoacidosis (DKA) in some rare cases. We report the case of a 70-year-old male with type 2 diabetes and no history of DKA, who started therapy with empagliflozin one day before presenting with acute pancreatitis and laboratory findings consistent with euglycemic DKA. SGLT2i can induce euglycemic DKA from the first dose. Given the atypical presentation, a high degree of clinical suspicion is required to recognize this complication.

scholarly journals Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Karen Bitton ◽  
J.-L. Bacquet ◽  
F. Amoroso ◽  
S. Mrejen ◽  
M. Paques ◽  
...  
Keyword(s):  
Valsalva Maneuver ◽  
Post Partum ◽  
Pathologic Myopia ◽  
Pathological Myopia ◽  
Case Presentation ◽  
Sudden Loss ◽  
Corrected Visual Acuity ◽  
First Case ◽  
History Of ◽  
Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

scholarly journals Case report: a 5-year-old with new onset nephrotic syndrome in the setting of COVID-19 infection

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Kelsi M. Morgan ◽  
Peace D. Imani
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Pediatric Patient ◽  
Corticosteroid Therapy ◽  
Clinical Remission ◽  
Laboratory Findings ◽  
Case Presentation ◽  
The Third ◽  
First Case ◽  
New Onset

Abstract Background This is a case report of an asymptomatic SARS-CoV-2 infection associated with new-onset nephrotic syndrome in a pediatric patient. This is the third case of new-onset nephrotic syndrome in children associated with SARS-CoV-2 infection, but is the first case report describing a new-onset nephrotic syndrome presentation in a patient who had asymptomatic COVID-19 infection. Case presentation This is a case of a previously healthy 5 year old female who presented with new-onset nephrotic syndrome in the setting of an asymptomatic COVID-19 infection. She presented with progressive edema, and laboratory findings were significant for proteinuria and hypercholesterolemia. She was treated with albumin, diuretics, and corticosteroid therapy, and achieved clinical remission of her nephrotic syndrome within 3 weeks of treatment. Though she was at risk of hypercoagulability due to her COVID-19 infection and nephrotic syndrome, she was not treated with anticoagulation, and did not develop any thrombotic events. Conclusions Our case report indicates that SARS-CoV-2 infection could be a trigger for nephrotic syndrome, even in the absence of overt COVID-19 symptoms.

scholarly journals Tocilizumab for massive refractory pleural effusion in an adolescent with systemic lupus erythematosus

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Arianna De Matteis ◽  
Emanuela Sacco ◽  
Camilla Celani ◽  
Andrea Uva ◽  
Virginia Messia ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Lupus Erythematosus ◽  
High Dose ◽  
Common Symptom ◽  
Systemic Lupus ◽  
Malar Rash ◽  
Case Presentation ◽  
Double Stranded Dna ◽  
First Case ◽  
History Of

Abstract Background Pleural effusion in systemic lupus erythematous (SLE) is a common symptom, and recent studies demonstrated that IL-6 has a pivotal role in its pathogenesis. Case presentation We report a case of a 15 years old Caucasian boy with a history of persistent pleural effusion without lung involvement or fever. Microbiological and neoplastic aetiologies were previously excluded. Based on the presence of pleuritis, malar rash, reduction of C3 and C4 levels and positivity of antinuclear antibody (ANA) and anti-double stranded DNA (dsDNA), the diagnosis of juvenile SLE (JSLE) was performed. Treatment with high dose of intravenous glucocorticoids and mycophenolate mofetil was started with partial improvement of pleural effusion. Based on this and on adults SLE cases with serositis previously reported, therapy with intravenous tocilizumab (800 mg every two weeks) was started with prompt recovery of pleural effusion. Conclusion To the best of our knowledge, this is the first case of JSLE pleuritis successfully treated with tocilizumab.

scholarly journals Spinal subarachnoid haemorrhage secondary to spinal rheumatoid vasculitis: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yeqing Xiao ◽  
Jie Yang ◽  
Jian Xia ◽  
Yunhai Liu ◽  
Qing Huang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Central Nervous System ◽  
Subarachnoid Haemorrhage ◽  
Therapeutic Effects ◽  
Rheumatoid Vasculitis ◽  
Low Disease Activity ◽  
Case Presentation ◽  
First Case ◽  
History Of ◽  
The Central Nervous System

Abstract Introduction Spinal subarachnoid haemorrhage is extremely rare in cases of subarachnoid haemorrhage and possesses servere characteristics. Additionally, spinal rheumatoid vasculitis is rare for spinal subarachnoid haemorrhage. The pathogenesis is unknown. Case presentation A 52-year-old woman with a 10-year history of seropositive rheumatoid arthritis was managed with leflunomide and celecoxib, and stable low disease activity was achieved. The patient had also been diagnosed with spinal subarachnoid haemorrhage secondary to isolated spinal rheumatoid vasculitis and obtained good therapeutic effects. Conclusion This is the first case to describe spinal subarachnoid haemorrhage secondary to isolated spinal vasculitis in a patient with rheumatoid arthritis, which provides more proof of anomalous neovascularization in the central nervous system in rheumatoid arthritis.

scholarly journals Mixed cortico-medullary adrenal carcinoma in children: looks are deceptive!!

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Arti Khatri ◽  
Nidhi Mahajan ◽  
Niyaz Ahmed Khan ◽  
Natasha Gupta
Keyword(s):  
Past History ◽  
Case Reports ◽  
Final Diagnosis ◽  
Adrenal Carcinoma ◽  
Case Presentation ◽  
First Case ◽  
Contrast Enhanced ◽  
Paediatric Age ◽  
History Of ◽  
Enhanced Computed Tomography

Abstract Background Mixed cortico-medullary adrenal carcinoma (MCMAC) is an extremely rare entity with scarce literature on its cytomorphology. Case presentation A 2-year-old girl presented with abdominal pain for 3 days and a past history of fever with significant weight loss. On examination, a non-tender left hypochondrial firm mass and an enlarged left supraclavicular node were found. Twenty-four-hour urinary levels of VMA were marginally high. Contrast-enhanced computed tomography of the abdomen showed a suprarenal heterogeneous mass encasing major vessels. Aspiration cytology of both mass and node showed similar features comprising a predominant population of singly scattered large cells with moderate cytoplasm, eccentric nucleus and prominent nucleolus in a necrotic background. Tumour cells expressed Synaptophysin and Melan-A. In view of increasing respiratory distress, debulking surgery was performed, and histopathology of the specimen revealed the presence of both malignant medullary and cortical components supported by immunohistochemistry making a final diagnosis of MCMAC. The patient succumbed to death in the postoperative period. The cytology slides were reviewed and were seen to show a dual cell population. Conclusion Coexistent malignant cortical and medullary tumour of the adrenal gland is the first case reported in the paediatric age group in the literature with only three previous case reports in adults.

Leukocytoclastic Vasculitis Following COVID-19 Vaccination: A Case Report

2021 ◽  
pp. 001857872110673
Author(s):  
Juny Sebastian ◽  
Merrin Mathew ◽  
Veeranna Sharsty ◽  
Madhan Ramesh
Keyword(s):  
Causality Assessment ◽  
Leukocytoclastic Vasculitis ◽  
Lower Limbs ◽  
Temporal Association ◽  
Causal Association ◽  
Laboratory Findings ◽  
Case Presentation ◽  
The Past ◽  
History Of ◽  
Day By Day

Background: Hypersensitivity or Leukocytoclastic vasculitis (LCV) following the COVID-19 vaccination has been reported rarely all over the world. LCV can be induced by certain factors such as infections, autoimmune disorders, malignancy, or some classes of drugs. Case presentation: A 32-year-old man, who was a known case of seizure disorder from his childhood presented to the department of dermatology with itchy red lesions on extremities and abdomen for the past 1 month. He explains a history of COVID-19 vaccination 1-month back and experienced itching on his lower limbs on the same day at night. A gradual worsening of the condition was observed day by day. He was hospitalized and diagnosed as LCV through clinical and laboratory findings. Conclusion: This case highlights a temporal association with the event of vaccination. The causality assessment showed an indeterminate causal association to LCV with COVID-19 Vaccination.

Methemoglobinaemia in Diabetic Ketoacidosis Patient

2021 ◽  
Vol 03 ◽  
Author(s):  
Magdy Mohamed ◽  
Nadem Javed
Keyword(s):  
Ascorbic Acid ◽  
Family History ◽  
Diabetic Ketoacidosis ◽  
G6pd Deficiency ◽  
Genetic Disorder ◽  
Red Blood Cell Transfusion ◽  
Case Presentation ◽  
History Of ◽  
Insulin Dependent ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked genetic disorder. Case Presentation: In this paper, we report a case of a 41-years-old male patient with non-insulin-dependent diabetes and a family history of G6PD deficiency never known to have any previous hemolytic episodes, presented as a case of diabetic ketoacidosis with features of hemolytic anemia due to G6PD deficiency manifesting as methemoglobinemia and anemia. Conclusion: Our patient successfully managed with ascorbic acid and red blood cell transfusion. Clinicians should, therefore, be aware of the possibility of this uncommon association between diabetic ketoacidosis, G6PD deficiency, and methemoglobinemia which may be present in patients with G6PD deficiency and severe hemolysis.

Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin

2017 ◽  
Vol 30 (12) ◽  
Author(s):  
Jillian Gregory ◽  
Sonali Basu
Keyword(s):  
Metabolic Acidosis ◽  
Diabetic Ketoacidosis ◽  
Insulin Infusion ◽  
Work Of Breathing ◽  
Altered Mental Status ◽  
Inborn Errors ◽  
Case Presentation ◽  
Arterial Blood Gas ◽  
Arterial Blood ◽  
History Of

AbstractBackground:Diabetic ketoacidosis (DKA) in children less than 1 year of age is a rare occurrence. Typical presentation includes a prodrome of weight loss and polyuria with subsequent presentation to medical care when acidosis becomes symptomatic.Case presentation:We describe an unusual case of a previously healthy infant with a 3 days’ history of constipation, presenting acutely with abdominal pain, lethargy, and dehydration. On initial evaluation, our patient had profound encephalopathy, with marked tachypnea and work of breathing. Arterial blood gas revealed a pH of 6.9, pCO2 of 20 and a bicarbonate level of <5. There was profound leukocytosis (WBC 77 K/μL), hyperuricemia (uric acid 15.9 mg/dL), and evidence of pre-renal azotemia [blood urea nitrogen (BUN) 54, Cr 0.82]. Blood glucose was >700 mg/dL. Despite fluid resuscitation and insulin infusion of 0.1 unit/kg/h, which are the mainstays of therapy for DKA, her severe metabolic acidosis and altered mental status did not improve. Differential diagnosis for her metabolic derangements included inborn errors of metabolism, insulin receptor defects, toxic ingestions, and septic shock secondary to an underlying oncologic or intra-abdominal process. The patient was treated with broad spectrum antibiotics and rasburicase. She continued to have significant shock for the first 30 h of her hospital stay, requiring moderate vasoactive support. Due to her refractory acidosis and persistent hyperglycemia, insulin infusion was increased to 0.15 units/kg/h. A hemoglobin AConclusions:Metabolic acidosis in an infant requires a broad differential. Rasburicase should be considered in hyperuricemia and DKA.

scholarly journals Role of Radiology in Pica Syndrome: A Case Report

2020 ◽  
Author(s):  
Isil Yurdaisik
Keyword(s):  
Developmental Level ◽  
Severe Anemia ◽  
Case Presentation ◽  
Active Involvement ◽  
The Third ◽  
First Case ◽  
History Of ◽  
Laboratory Investigations ◽  
Intestinal Obstructions

Abstract Background: Pica syndrome is a mental disorder defined as eating non-food and not-nutritive substances at least for 1 month. The diagnosis of pica syndrome is based on severe anemia which is not compatible with the developmental level, intestinal obstructions, or several conditions depending on content of the substance intaken such as lead poisoning etc. The diagnosis of pica syndrome requires active involvement of pediatrics, psychiatrists, radiologists and patients/family members. Case Presentation: In this report, we present a 50-year-old female patient who presented to the emergency department with abdominal pain and radiologically diagnosed with pica syndrome. Patient’s physical and laboratory investigations were normal, while all abdominal tomography revealed hyper-density areas. It was found in the detailed history of the patient that she was receiving psychiatric therapy and had habit of eating cigarette ashes. Upon this, cigarette ashes soaked in water were radiologically examined, similar hyper-density areas were found, and the diagnosis of pica syndrome was established. Conclusion: This case is the third case of eating cigarette ashes pica presented in the literature, and the first case diagnosed radiologically.

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