recessive chronic granulomatous disease

A 2 year old girl presented with epilepsy 16 months after being diagnosed as having autosomal recessive chronic granulomatous disease. Computed tomography showed a cerebral mass which was surgicaily removed and proved histologicaily to be an aspergilloma. This case illustrates the application of molecular diagnostic techniques to the diagnosis of chronic granulomatous disease. The occurrence of, and unusual reaction to, cerebral aspergillus infection indicates the need to consider this possibility in the differential diagnosis of mass lesions in chronic granulomatous disease. Furthermore, it is clear that autosomal recessive chronic granulomatous disease cannot be considered to be a clinically mild form that is exempt from major neurological complications. (Arch Dis Child 1993; 68: 412-414) Department of Neuropathology, Institute of Psychiatry, London A F Dean I Janota Department of Medicine, University College London A Thrasher Department of Neurosurgery, Maudsley Hospital, London I Robertson Department of Child Health, King's College Hospital, London G Mieli-Vergani Correspondence to: Dr A F Dean, Department of Neuropathology, Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF. Accepted 28 October 1992 The chronic granulomatous diseases of childhood are a heterogeneous group of inherited disorders arising from a defect in the superoxide generating system of phagocytic cells, the NADPH oxidase. Five components of this system have now been identified and comprise two subunits of a membrane bound cytochrome (cytochrome b-245) and three cytosolic factors.' Defects in any of these components results in chronic granulomatous disease. Approximately two thirds of cases are due to defects in the cytochrome and are X linked, whereas one third are due to the absence of the 47 kilodalton cytosolic protein, p47-phox, and have autosomal recessive inheritance.' The clinical syndrome is characterised by extreme susceptibility to recurrent infection with certain micro-organisms. The tissues most often affected are the lymph nodes, skin, lungs, and liver; infection of the brain or its coverings is rare.25 The case reported here is the first documented example ofan intracranial aspergilloma in a child with chronic granulomatous disease. Case history A 2 year old black girl was admitted to hospital for the evaluation of epilepsy. She had been born in the UK of parents native to Zaire. The obstetric and neonatal history were normal and she was thriving when, at 8 months of age, hepatosplenomegaly and cervical lymphadenopathy was detected at a health check up. Venepuncture for blood tests caused an abscess to develop from which Staphylococcus aureus and a group B streptococcus were isolated. Viral hepatitis, tuberculosis, leishmaniasis, and storage diseases were considered and excluded and an HIV antibody test (Bhering) was negative on three separate occasions. A diagnosis of chronic granulomatous disease was made. The patient had four older siblings (two boys, two girls), all of whom were well. No other family history was available. The patient did not report for follow up for the next year, but was then admitted to hospital after having two focal seizures within one month affecting the right side of her body. On examination she was afebrile and alert. There was decreased tone and brisk reflexes in the right arm and leg, with both plantar responses downgoing. There was an equivocal sensory loss in the right arm. Radiographic computed tomography examination showed a 3 cm lesion in the posterior frontal convexity of the left cerebral hemisphere that had homogeneously increased signal attenuation with respect to the brain, contained flecks of calcium, was surrounded by oedema, induced midline shift, and enhanced with contrast (fig 1). There were no contiguous air sinuses. Five days after admission her right pupil began to react sluggishly to light and the right plantar response became upgoing. She was referred to neurosurgery and underwent a left frontoparietal craniotomy and excision of the mass. At operation, there was a firm mass in the frontoparietal convexity. Near the midline on the top it had a site of dural attachment and peripherally a thin covering of brain; elsewhere, the mass could be dissected from the brain to leave a smooth surface. On incision some parts of the mass oozed caseous material. Almost all of the mass could be removed, leaving only a plaque of fibrous tissue attached to the dura and superior saggital sinus. Figure I Radiographic computed tomogram without contrast of the cerebral mass (arrow). 412 group.bmj.com on October 30, 2017 Published by http://adc.bmj.com/ Downloaded from