A previously healthy 16-year-old male with a ten-day history of proptosis and pain in the left upper eyelid and inflammatory signs of the left lower limb, without fever, was admitted to the Emergency Department. Computed tomography (CT) scan revealed an extensive intraorbital lesion and a multiloculated collection in the muscle planes of the thigh. The boy underwent surgical drainage and was started on empiric ...
First described in 2018, heterozygous variants of the RHOBTB2 gene, affect the translation of a Rho GTPase protein, essential in neuronal development and synaptic plasticity. The few cases described are characterized by a clinical spectrum of epileptic encephalopathy, psychomotor and cognitive delay, microcephaly, nonspecific facial dysmorphism and movement disorder. We report a case of a female child, who had ...
A previously healthy 16-year-old male with a ten-day history of proptosis and pain in the left upper eyelid and inflammatory signs of the left lower limb, without fever, was admitted to the Emergency Department. Computed tomography (CT) scan revealed an extensive intraorbital lesion and a multiloculated collection in the muscle planes of the thigh. The boy underwent surgical drainage and was started on empiric ...
Introduction : Wernicke Encephalopathy (WE) is an acute neurological disorder caused by thiamine deficiency. Usually associated with alcoholism in adults, WE can also occur in children with other etiologies.1 The classic triad of symptoms is present in a small number of patients. As a medical emergency, once suspected, high doses thiamine treatment should be started in order to decrease comorbidities and improv...
Infantile hepatic haemangioma (IHH) is a rare vascular tumour that is potentially lethal due to its associated complications, including heart failure, hepatic failure, hypothyroidism and abdominal compartment syndrome. The authors report a case of an asymptomatic diffuse IHH in a newborn male, which was presented as an incidental finding at the time that the patient was diagnosed with pyloric stenosis. The pati...