Cgd Case Studies

A 22 months old girl, known case of P22 phox-deficient CGD, admitted to our center with a history of prolonged productive cough unresponsive to outpatient treatments. In her past history, she had an older sibling, who was a known case of CGD, but she had received the routine vaccination, including BCG and had developed BCG-adenitis at the age of 8 months old for which Investigations were negative for mycobacterium tuberculosis and she was prescribed prophylactic dose of trimethoprim-sulfametoxazol, but not any anti-fungal agent. Since last month she developed a productive cough, unresponsive to oral antibiotic therapy. On admission she had failure to thrive (body weight was 8.5 kg), low grade fever and a mild tachypnea. Lung sounds were decreased on the right lower …show more content…
Despite intense oral and intravenous antifungal therapy, contiguous spread of the primary pulmonary infection to 2 adjacent ribs occurred. Failure to control the infection led to a surgical resection of her right inferior lobe. After4 months of antifungal treatment (Caspofungine +Itraconazole) and administration of IFN- ȣ, despite the particular improvement in her general and respiratory condition, she suddenly developed unilateral colonic seizures, vomiting and loss of consciousness. Cranial CT Scan revealed an acute non-communicating hydrocephalus with dilated bilateral and third ventricles that was interpreted to a blockage in cfs circulation at forth ventricle level by fungal infection or granuloma formation (Figure 3). Placing an external ventricle drainage, increased her level of consciousness and after a while a ventriculo-peritoneal shunt was replaced and her antifungal regiment was changed to Voriconazole plus Caspofungin. But 2 weeks later she developed fever, refractory seizures and coma. She was intubated and despite the obvious changes in CSF cells