A 30-year-old Filipino female admitted to our hospital with a 1-week history of fever and cough. The patient has diabetes mellitus 1 year ago, but she was not receiving any medication. Other medical histories were unremarkable. On examination, the patient looked well, not dyspneic. Her blood pressure was 110/70 mmHg, pulse rate 90 beats/min, respiratory rate 20 cycles/min and temperature 37°C. Chest examination revealed bronchial breathing with crackles, mainly on the right lung. The rest of the clinical examination otherwise was normal.\nBlood investigations revealed a hemoglobin level of 13.8 g/dL, a total leukocyte count of 12,900/mm3(91.7% neutrophils, 1.7% lymphocytes) and an adequate number of platelets. Erythrocyte sedimentation rate was 53 mm/hour. Blood chemistry, liver profile and coagulation studies were within normal limits. Chest X-ray showed widespread bilateral consolidation with cavity formation, suggesting active tuberculosis infection, whereas sputum was positive for acid fast bacilli (AFB). Human immunodeficiency virus enzyme-linked immunosorbent was negative.\nOn the 3rd day of hospitalization, four-drug antituberculous treatment was started. To control her blood sugar, the patient was kept on sliding scale insulin.\nTwo weeks after starting antituberculous treatment, the patient developed two episodes of loss of consciousness, which were unwitnessed. The exact duration was unknown, but when awakened, the patient complained of severe headache and backache. Neurological examination was unremarkable.\nECG and blood chemistry (including blood sugar), complete blood count (CBC) and liver profile were normal. Lumber puncture was carried out to rule out tuberculous meningitis. Cerebrospinal fluid (CSF) was clear with an opening pressure of 40 mm H2O, and analysis of CSF revealed the following values: WBC count of 5 cells/mm3(100% lymphocytes); glucose level 3.8 mmol/L; and protein level 0.78 g/L. Gram and Zeihl-Neelsen stains were negative. Echocardiography and holter monitoring also were normal, whereas urgent brain computed tomography (CT) showed multiple infarctions without abnormal dural enhancement [Figures and ]. Screening for thrombophilia and vasculitis was carried out. Anti-thrombin III, activated protein C resistance, factor V Leiden, protein C, protein S, clotting time, prothrombin time, activated partial thromboplastin time, fibrinogen, anticardiolipin antibody, lupus anticoagulant screen, homocystine, antinuclear antibody (ANA), C3, C4, C-reactive protein (CRP) and anti-neutrophil cytoplasmic antibodies (ANCAs), all these tests were within normal limits. The electroencephalogram (EEG) showed epileptic discharges. Magnetic resonance imaging (MRI) showed infarction at the head of the left caudate nucleus, the antero-lateral aspect of putamen and intervening internal capsule [], whereas magnetic resonance (MR) angiography showed a picture consistent with moyamoya. Brain CT angiography was performed and it showed the same pictures [].\nThe patient was diagnosed with pulmonary tuberculosis-associated moyamoya syndrome. On the following days, she was discharged on antituberculous, antiepileptic (Leveteracetam) and oral hypoglycemic (Gliclazide) medications. After 6 weeks, CSF culture failed to grow Mycobacterium tuberculosis. One year later, the patient was seen in the clinic; she was well and seizure-free.
A 10-year-old Saudi girl was referred from a local hospital with right side weakness, which was of sudden onset, started in the right lower limb, and 2 days later involved the right upper limb. She had a history of 4 months of pallor, and 2 weeks skin bruising prior to the onset. It was not associated with facial weakness, headache, fever, convulsion, visual disturbance, or loss of consciousness, and no history of preceding head trauma. She had a similar attack of left side weakness 5 months earlier, which resolved spontaneously without medical evaluation at a local hospital. Her mother noticed that she is shorter than her other siblings. Her immunization was completed, and her physical, and cognitive development was normal. Her parents were first degree cousin, and had 6 other siblings. Her physical examination revealed a well looking girl, with pallor and skin bruising on lower limbs, with 2x3cm scattered café au lait spots on the back, and inguinal region. Her weight was 25 kg, below 5th centile for her age, and her height was 118 cm, below the 3rd centile for her age. She had right hemiparesis, there were no hepatosplenomegaly, and the examination of other systems were unremarkable.\nHer investigations showed white blood cell count 2600/mm3 (normal value [NV] - 4000-10500/mm3), neutrophil count 500/mm3 (NV - 3000-5000/mm3), hemoglobin 6.3 g/dl (NV - 12.5-16.1 g/dl), and platelet count 33000/mm3 (NV - 150-400/mm3). Her liver and renal profile were within normal limits. Bone marrow aspiration showed hypocellular marrow. Chromosomal analysis confirmed chromosomal breakage. Brain MRI showed a left frontal focal area of acute ischemic infarction, and an area of right parietal periventricular white matter old infarction, with multiple small white matter lacunar infarcts (). The brain MRA showed poor arterial circulation, and a narrow distal internal carotid artery with puff of smoke sign (arrow) on the right side suggestive of moyamoya disease (). The diagnosis was confirmed as FA, with association of moyamoya disease, presenting with right hemiplegia. She was managed initially by supportive care in the form of a blood transfusion, and physical therapy for hemiplegia, later she underwent partial match related donor stem cell transplantation (SCT), but unfortunately, she died after 3 months from post SCT complications.