RESUMO
A 5-year-old boy of non-consanguineous Indian descent presented to the emergency department (ED) following a prolonged seizure, preceded by a minor head injury from a low-level unwitnessed fall. The seizure was described as focal with head and neck version to the right. There was urinary and faecal incontinence and foaming at the mouth. The seizure lasted for 30 min, following which the child made a rapid recovery and had no neurological deficit when examined in the ED. His initial observations were unremarkable, with him being afebrile, normotensive and having a blood sugar of 4.6 mmol/L. QUESTION 1: Which imaging modality, if any, should be performed? QUESTION 2: Initial imaging showed two parenchymal lesions, one within the left frontal lobe and the other in the right parietal lobe with possible areas of blood or calcification. MRI (figure 1A,B) was urgently undertaken and reported as likely to be either haemorrhage into cavernomatous malformations, haemorrhagic metastases or haemorrhage within infected lesions such as tuberculomas.What would be the most useful next step in view of the differential diagnosis?CT chest and abdomenPerform a C-reactive proteinPerform a Mantoux testRefer to neurosurgeryTake a detailed family history QUESTION 3: As the patient remained stable on the ward, with no signs of focal neurology and no mass effects on MRI, a lumbar puncture was performed the following day to exclude tuberculosis (TB) (table 1). What cell appearance would indicate TB infection? QUESTION 4: A review of the mother's medical records and MRI scans revealed her to have multiple discrete cerebral cavernous malformations (CCMs) (figure 2).In view of this new information, what is the next step in investigating this child?
Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Convulsões/etiologia , Neoplasias Encefálicas/genética , Pré-Escolar , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Humanos , Proteína KRIT1/genética , Imageamento por Ressonância Magnética , Masculino , MutaçãoRESUMO
An 11-year-old girl presented with diarrhoea associated haemolytic uraemic syndrome (HUS) requiring haemodialysis. Four weeks following the resolution of her renal impairment, she was found to have cervical lymphadenopathy alongside deterioration in her renal function. While blood films during her acute illness were indicative of sepsis only, subsequent film revealed a diagnosis of acute lymphoblastic leukaemia (ALL). Thus, this report describes a rare case of diarrhoea associated HUS preceding the diagnosis of ALL, and may represent an unusual presentation of the malignancy.
