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.
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.
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.
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.
Introduction: A hypercalcaemic crisis, also called para thyrotoxicosis, hyper parathyroid crisis or parathyroid storm, is a complication of primary hyperparathyroidism (PHPT) and an endocrinology emergency that can have dramatic or even fatal consequences if it is not recognised and treated in time.
Case presentation: Two cases presented in the emergency department with critical hypercalcaemic symptoms and severe elevation of serum calcium and parathyroid hormone levels, consistent with a hypercalcaemic crisis. The first case, a 16-year-old female patient, had imaging data that highlighted a single right inferior parathyroid adenoma and a targeted surgical approach was used. The second case, a 35-year-old man was admitted for abdominal pain, poor appetite, nausea, and vomiting. Laboratory tests revealed severe hypercalcemia, hypophosphatemia, and an increased serum iPth level. There was no correlation between scintigraphy and ultrasonography, and a bilateral exploration of the neck was preferred, resulting in the exposure of two parathyroid adenomas. The patients were referred for surgery and recovery in both cases was uneventful
Conclusion: These cases support the evidence that surgery remains the best approach for patients with a hypercalcaemic crisis of hyperparathyroidism origin, ensuring the rapid improvement of both the symptomatology and biochemical alterations of this critical disease.
H1N1 is seen in tropical countries like India, occurring irrespective of the season. Complications of the disease are frequently encountered and there is little in the way or guidelines as to the how these should be managed. The treatment of one such complication, a recurrent pneumiomediastinum is the subject of the current paper. The management followed guidance for the treatment of a similar condition known as primary spontaneous pneumomediastinum, an uncommon condition resulting from alveolar rupture-otherwise known as the Macklin phenomenon.
Introduction: Upper gastrointestinal bleeding is an uncommon but possible life-threatening entity in children, frequently caused by erosive gastritis. Non-steroidal anti-inflammatory drugs are one of the most common class of drugs which can cause gastrointestinal complications, including hemorrhagic gastritis.
Case report: The case of a 6-year-old male, admitted for hematemesis, abdominal pain and loss of appetite. It was ascertained at the time of admission, that ibuprofen had been prescribed as the patient had a fever. This was inappropriately administered as the mother did not respect the intervals between the doses.
Initial laboratory tests revealed neutrophilia, leukopenia, high levels of lactate dehydrogenase and urea. An upper digestive endoscopy revealed an increased friability of the mucosa, digested blood in the gastric corpus and fornix. No active bleeding site was detected. The histopathological examination described a reactive modification of the corporeal gastric mucosa. Intravenous treatment with proton pump inhibitors and fluid replacement were initiated, with favorable results.
Conclusion: Ibuprofen can lead to upper digestive hemorrhage independently of the administered dose. Parents should avoid administering Ibuprofen for fever suppression without consulting their pediatrician.
Thrombophilia represents a tendency towards excessive blood clotting and the subsequent development of venous thromboembolism (VTE). VTE is a rare condition in children that comprises both deep venous thrombosis (DVT) and pulmonary embolism (PE). This paper reports the case of a 16-year-old girl, admitted to the Pediatrics Clinic No. 1, Tîrgu Mureș, Romania, for dyspnea, chest pain and loss of consciousness. Her personal history showed that she had had two orthopedic surgical interventions in infancy, two pregnancies, one spontaneous miscarriage and a recent caesarian section at 20 weeks of gestation for premature detachment of a normally positioned placenta associated with a deceased fetus. Laboratory tests showed increased levels of D-dimers. Angio-Computed Tomography (Angio-CT) showed multiple filling defects in both pulmonary arteries, establishing the diagnosis of PE. The laboratory tests were undertaken to assist in the diagnoses of a possible thrombophilia underlined a low level of antithrombin III. Antiphospholipid syndrome was ruled out and genetic tests revealed no specific mutation. Anticoagulant therapy was initiated with unfractionated heparin and afterwards subcutaneously low molecular heparin was prescribed for three months. Later it has been changed to oral therapy with acenocoumarol. The patient was discharged in good general status with the recommendation of life-long anticoagulation therapy. Thrombophilia is a significant risk factor for PE, and it must be ruled out in all cases of repeated miscarriage.
Background: Elizabethkingia meningoseptica are Gram-negative rod bacteria which are commonly found in the environment. The bacteria have also been associated with nosocomial infections, having been isolated on contaminated medical equipment, especially in neonatal wards.
Case report: Here, we present the case of a premature female infant born at 33 weeks’ gestational age, with neonatal meningitis. The onset was marked by fever, in the 5th day of life, while in the Neonatal Intensive Care Unit. The patient was commenced on Gentamicin and Ampicillin, but her clinical condition worsened. Psychomotor agitation and food refusal developed in the 10th day of life, and a diagnosis of bacterial meningitis was made based on clinical and cerebrospinal fluid findings. A strain of Elizabethkingia meningoseptica sensitive to Vancomycin, Rifampicin and Clarithromycin was isolated from cerebrospinal fluid. First-line antibiotic therapy with Meropenem and Vancomycin was adjusted by replacing Meronem with Piperacillin/Tazobactam and Rifampicin. The patient’s clinical condition improved, although some isolated febrile episodes were still present. The cerebrospinal fluid was normalized after 6 weeks of antibiotic treatment, although periventriculitis and tetraventricular hydrocephalus were revealed by imaging studies. Neurosurgical drainage was necessary.
Conclusion: Elizabethkingia meningoseptica can cause severe infection, with high risk of mortality and neurological sequelae in neonates. Intensive care and multidisciplinary interventions are crucial for case management.
Although cardiac tumours are uncommon, cardiac myxomas account for more than fifty percent of all cases and are the most frequent primary cardiac tumour. They have a broad clinical spectrum, usually related to cardiac symptoms, peripheral embolic events or systemic manifestations. We present a case report of a 68-year-old man who presented with systemic symptoms and analytical features suggestive of an autoimmune disease. In the ensuing diagnostic procedures, a cardiac myxoma was found, and after surgical resection, both the systemic manifestations and the analytical abnormalities disappeared.