INTRODUÇÃO U m sopro cardíaco (SC) corresponde a um som extra, audível para além dos normais tons cardíacos, que surge em resultado de uma turbulência no fluxo sanguíneo capaz de gerar vibrações de intensidade suficiente para serem transmitidas através da parede torácica. 1 Constitui um importante elemento diagnóstico na detecção de uma cardiopatia congénita, permitindo avaliar,
Stroke has been recognised more frequently in children and represents a major cause of morbidity and mortality. It usually has an acute presentation, characterised by focal neurological signs, headache, altered state of consciousness or seizures. We report the case of an 18-month-male child with motor development disturbance, gait difficulty and preferential use of the left arm with right hemiparesis at clinical exam. Brain MRI showed an extensive damage involving corona radiata, thalamus, posterior arm of the internal capsule and left lenticular nucleus with atrophic retraction of the adjacent cerebrospinal fluid pathways, suggesting old ischaemic injury of the middle cerebral artery territory. Causal research pointed out at methyltetrahydrofolate reductase (MTHFR) C677T heterozygosity. He was referenced to physiotherapy and paediatric neurology consultation with favourable evolution and no recurrence of ischaemic events. Stroke is a relatively rare phenomenon in children; however, we have to consider it as a diagnosis in the presence of focal neurological deficits. MTHFR C677T mutation is considered a prothrombotic factor; however, in the absence of hyperhomocysteinaemia, no direct therapeutic approach is necessary.
AIMS: In the present study, the authors intend to demonstrate the advantages of molecular diagnosis in immunoallergology through the description of a clinical case.CASE DESCRIPTION: We present the case of a 9-year-old male, followed by pediatric immunoallergology with the diagnoses of moderate persistent asthma, persistent rhinitis, atopic eczema and food allergy with severe manifestations (several episodes of anaphylaxis). molecular profile of allergic sensitization contributed to better knowledge of the patient, therapeutic and even prognostic adequacy.CONCLUSIONS: The molecular allergy diagnostic tests, according to the analysis of the present case, allows the establishment and escalation in terms of severity of a more individualistic sensitization profile, which is especially important in the patient who is polysensitized and with reports of respiratory and food allergies.
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