Pyruvate dehydrogenase complex deficiency (PDCD) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. Structural brain abnormalities are common in PDCD. A case of a patient with PDCD with an unusual presentation is described. A 20-month-old boy with hypotonia and developmental delay, presented with hypoxia and respiratory distress due to bronchiolitis. During hospitalisation, he was prescribed PediaSure® feeds. Two days after starting these feeds, he developed respiratory arrest requiring intubation. His blood gas before arrest revealed lactate of 8.9 mmol/L despite normal haemodynamics. After stabilisation and a period of compulsory fasting, subsequent feeding with PediaSure® resulted in the recurrence of lactic acidosis. A metabolic workup revealed an elevated serum pyruvate level. Brain MRI was normal. Skeletal muscle biopsy confirmed PDCD. The most common cause of PDCD is a mutation in the X-linked PDHA1 gene. The severity of PDCD can range from neonatal death to more delayed onset of symptoms as in our index case. Normal brain MRI is reported in only 2% of patients with PDCD. There is no effective treatment for PDCD. In patients with proximal muscle weakness and feeding intolerance with glucose-containing feeds, the presence of lactic acidosis should raise the suspicion of PDCD irrespective of the patient’s age and normal MRI.
Category Archives: JCCM 2019, Vol. 5, Issue 2
Increased Susceptibility to Postoperative PCA Morphine-Induced Respiratory Depression in a Patient with an Undiagnosed Traumatic Porencephalic Cyst – A Case Report
Introduction: Patient-controlled analgesia with morphine is routinely used for postoperative pain management. Due to the safety profiles of the technique, which are patient/disease related or technique/equipment related, severe respiratory depression requiring opioid antagonists or airway management are uncommon.
Case presentation: The case of a patient with right colon carcinoma who was operated on for hemicolectomy under general anaesthesia and who presented with apnoea, after postoperatively receiving an initial bolus of 1mg of morphine. A large post-traumatic porencephalic cyst of the left brain hemisphere, previously undiagnosed, was found on the computed tomography scan. We excluded human errors, technique and equipment factors, and the patient did not have any other predisposing conditions like sleep apnoea, obesity, recent head injury or concurrent use of other sedatives. Previously the patient had been entirely asymptomatic, and her increased susceptibility to respiratory depression was the only clinical manifestation of porencephaly.
Conclusion: Adult acquired porencephaly is seldom reported in the literature, clinical manifestations depending on the location and size of the cyst. In the present reported case, increased susceptibility to low-dose opioids might be associated with the structural and functional reorganisation of the brain after head trauma with the occurrence of the porencephalic cyst of the brain.
Refractory Lactic Acidosis and an Approach to Its Management – A Case Report
Background: Lactic acidosis (LA) is a complication of diseases commonly seen in intensive care patients which carries an increased risk of mortality. It is classified by its pathophysiology; Type A results from tissue hypo-perfusion and hypoxia, and Type B results from abnormal metabolic activity in the absence of hypoxia. Reports of the co-occurrence of both types have been rarely reported in the literature relating to intensive care patients. This case report describes the challenging management of a patient diagnosed with both Type A and Type B LA.
Case presentation: A 55-year-old female with newly diagnosed diffuse large B-cell lymphoma (DLBCL) developed hospital-acquired pneumonia, respiratory failure, shock and intra-abdominal septicaemia from a bowel perforation. Blood gases revealed a mixed picture lactic acidosis. Correction of septic shock, respiratory failure and surgical repair caused initial improvement to the lactic acidosis, but this gradually worsened in the intensive care unit. Only upon starting chemotherapy and renal replacement therapy was full resolution of the lactic acidosis achieved. The patient was discharged but succumbed to her DLBCL several months later.
Conclusion: Type A and Type B LA can co-occur, making management difficult. A systematic approach can help diagnose any underlying pathology and aid in early management.
Pulseless Electrical Activity Arrest as the First Symptom of Testicular Cancer with Subsequent Phlegmasia Cerulea Dolens
Introduction: Phlegmasia cerulea dolens (PCD) is a severe, rare complication of deep vein thrombosis, which is characterised by compartment syndrome, arterial compromise, venous gangrene, and shock. Prothrombotic states are the primary risk factor for PCD, which, in most cases, is associated with pulmonary embolism and carries a high mortality.
Case report: A 46-year-old male presented following a pulseless electrical activity (PEA) arrest due to saddle pulmonary embolism (PE). He subsequently developed PCD and venous gangrene secondary to inferior vena cava obstruction, in the setting of a new diagnosis of testicular germ cell tumour.
Discussion: PEA arrest, as the initial presenting problem in malignancy, is rare. It is extreme for the first indication of cancer to be a PEA arrest from massive PE. While hypoxic brain injury from the cardiac arrest precluded intervention in this case, a surgical approach entailing en bloc resection of aortocaval metastasis, with subsequent IVC reconstruction, followed by lower limb venous thrombectomy would have been favoured as it was considered that an endovascular approach would not have been successful.
Conclusion: A case of a patient with phlegmasia cerulea dolens secondary to testicular cancer, who presented following PEA arrest is described.
Opportunities for Practices in Precision Population Health and Personalized Medicine
During the previous decades, the practice of cancer prevention and intervention has achieved much success at the population level. However, it has become obvious that such achievements at the individual levels have been highly variable and, perhaps, disappointing. Therefore, to significantly improve efficacy, the United States and the European Union have set up priority programs on the development of precision population health and personalized medicine. The emphasis will require a paradigm shift in focusing these activities onto individuals instead of populations. In addition, it changes our traditional approach in conducting basic research and clinical medicine, e.g. by incorporating more genomic information and more personal data into research and practice activities. [More]
Sepsis in Acute Mediastinitis – A Severe Complication after Oesophageal Perforations. A Review of the Literature
Background. Despite recent advancements in antibiotic therapy and the progress made in critical care and modern diagnostic methods, acute mediastinitis continues to be a severe condition.
Diagnosis and treatment. Acute mediastinitis can occur in the context of cardio-thoracic surgery, oesophageal perforations and oropharyngeal infections condition. Forty-five percent of oesophageal perforations occurs during simple endoscopy. Spontaneous perforation (Boerhaave syndrome) accounts for 15% of perforations, and twelve percent are due to the ingestion of foreign bodies. Other causes include blind or penetrating trauma, and circa 9% to intraoperative lesions. CT scan is the standard investigation that reveals direct signs of mediastinitis. The oral administration of contrast substances can underscore the level of oesophageal perforation. Conservative treatment is the first-choice treatment and surgical treatment is reserved only for specific situations. The principles of surgical treatment consist of drainage, primary suture, oesophageal exclusion with or without the application of oesophagectomy, endoscopic vacuum wound assisted therapy of the perforation and associated paraoesophageal mediastinal drainage and endoscopic stenting associated with drainage.
Conclusions. The lowest mortality rate is recorded in patients with perforations diagnosed less than twenty-four hours after the onset of symptoms. Surgical treatment remains the gold standard especially in cases of thoracic and abdominal perforations while further investigations are mandatory before endoscopic stenting is carried out.
Spotlight on How to Structure a Case Report
This is the first paper in the occasional series which aims to aid and facilitate internists and colleagues who have little or no experience in writing and submitting manuscripts for publication.
Case reports have a very low level of evidence, but they do have a place in medical publications. Polymyalgia rheumatica (PMR) was first established as a distinct disease in 1966 following the publication of a case report on 11 patients. [ Davison S, Spiera H, Plotz CM “Polymyalgia rheumatica”. Arthritis and Rheumatism. 9 (1): 18–23.] [More]