Oculo-ectodermal syndrome (OES - OMIM 600628), also known as Toriello Lacassie Droste syndrome, is a very rare condition, first described by Toriello et al., in 1993. OES has been proposed to be a mild variant of encephalocraniocutaneous lipomatosis (ECCL). It is characterized by aplasia cutis congenita (ACC), epibulbar dermoids, coarctation of the aorta, arachnoid cysts in the brain, seizure disorder, hyperpigmented nevi, non-ossifying fibromas and a predisposition to develop giant cell tumors of the jaw. There are few reported cases of OES worldwide but with no definite diagnostic criteria yet. We present a case in a child with unilateral hyperpigmented nevi and ACC on the scalp, ocular lesions (lipodermoid cysts and coloboma), temporal arachnoid cyst, spinal lipomatosis and aortic coarctation with the aim of enhancing the foundation to establish diagnostic criteria for this condition. It additionally serves as a teaching point to emphasize the importance of pursuing a definite diagnosis when faced with such a multisystem illness, to counsel patients and their parents regarding long term morbidity and overall prognosis.
Endoscopic third ventriculostomy (ETV) is a common minimal-invasive neurosurgical procedure with well-documented complications. We report the case of a 6-year-old female child who underwent ETV, external ventricular drainage (EVD) catheter insertion and biopsy for a tumour arising from the pineal gland causing obstructive hydrocephalus and raised intra cranial pressure (ICP). Vital signs were stable pre-operatively and anaesthesia was maintained using propofol infusion. The operative bed was irrigated with normal saline under pressure after ETV, which immediately resulted in sinus tachycardia intra-operatively and central neurogenic hyperventilation (CNH) with respiratory alkalosis and transient lactic acidosis an hour after the surgery. Only few case reports have been reported in adults with CNH and respiratory alkalosis. Hyperventilation resulting in lactic acidosis is a well-known entity but lactic acidosis following CNH due to transient hypothalamic dysfunction after endoscopic third ventriculostomy has not been reported previously. Our patient was managed with benzodiazepines and oxygen delivered by a rebreathing mask, which resulted in complete recovery within 12 hours. This case highlights the importance of ICP measurement and monitoring and assessment of the type, volume and pressure of fluid used for brain irrigation during ETV, to prevent complications. ETV may cause intra-operative hemodynamic disturbances such as tachycardia, hypertension and hyperthermia followed by post-operative transient hypothalamic dysfunction and CSF acidosis leading to sequelae of CNH with acute respiratory alkalosis and transient lactic acidosis. We emphasize the importance of ICP monitoring during neuroendoscopic procedures, as an inadvertant rise in ICP appears to be the central factor leading to the various ill effects encountered both intra and post-operatively. Moreover, although normal saline has been the irrigation fluid of choice for neurosurgeons, a multitude of laboratory studies suggest it being less ideal and it might be prudent to look into alternatives, namely artificial CSF and Ringer's Lactate.
To assess if stratification of patients based on clinical severity, laboratory markers and radiological findings at presentation would enable better prediction for the need for a surgical intervention. Single-centre retrospective cohort study done in the in-patient pediatric wards of a tertiary care centre in the State of Qatar. Participants – 56 children (aged 6 months – 14 years) with empyema or parapneumonic effusion, from July 2009- June 2013. Patients were classified into mild and severe clinical presentation based on the 2011 British thoracic society (BTS) pneumonia guidelines. Interventions were categorized as conservative (antibiotics only), non-conservative (antibiotic and surgical intervention). The values of CRP, ESR, WBC count, upon admission and follow up were also assessed, along with pleural fluid markers such as LDH, glucose and PH. The chest X-ray and chest USG were also assessed for severity and loculations. Of the 56 patients included, 29 (52%) had severe and 27 (48%) had mild clinical presentation. 26 patients (46.4%) were managed conservatively, while 30 patients (53.6%) required intervention. Younger patients (3.8 ± 3 years) tend to have increased risk for intervention, severe clinical presentation and loculations on USG. Age ≤ 5 years, severe clinical presentation, serum WBC count ≥ 20,000/mm3, ESR ≥ 80 mm/hr, serum CRP ≥ 100 mg/dl, moderate to severe effusion on chest radiograph and presence of loculation on USG individually increased the likelihood for a surgical intervention in pediatric patients with parapneumonic effusion. Having ≥ 4 out of 7 criteria accurately predicted a high risk for the need for surgical intervention (OR-6.93, 95%CI-1.2-37, p-0.023, sensitivity 72%, specificity 73%). Having ≥ 4 out of 7 criteria accurately predicted a high risk for the need for surgical intervention. Prospective trials are recommended to see if this would enable homogeneity in deciding when to intervene in patients with parapneumonic effusion thereby reducing the LOS and cost-burden on the healthcare system.
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