Hemolytic disease in childhood is frequently obscure in etiology and difficult to classify. Recently we have seen such a case in a 9-year-old Negro girl, which subsequently proved to be paroxysmal nocturnal hemoglobinuria (PNH) and which is reported in some detail not only because of its rarity in childhood but also because of the dearth of cases in the literature of PNH in Negroes. To our knowledge it has not been reported previously in a Negro child.
Report of CaseThe patient is a 9-year-old Negro girl whose birth and infancy were normal. There is no family history of anemia, and there are three siblings living and well, one additional sibling having died at nine months of age from dysentery.The child was seen in the pediatric clinic of the Indianapolis General Hospital at 5 years of age because of nasopharyngitis, with frequent subsequent visits because of upper respiratory infections and tonsillitis. A tonsillectomy was done when the patient was 7 years old. A year and a half later the child was seen in the ophthalmology clinic because of "headaches and blackout spells after reading" ; the eyes were found to be normal. Six months later, at the age of almost 9 years, the patient was admitted to the General Hospital because of severe frontoparietal headaches of six weeks duration, with some difficulty in walking during the prior 24 hours. The only definite find¬ ings on physical examination were weakness of both right extremities and loss of the superficial reflexes on the right.The red blood count was 3,450,000/cu. mm., the hemoglobin level, 3.6 gm/100 ml. blood, and the red blood cells were hypochromic. The white cell count was 5250/cu. mm. with a normal differential. The reticulocyte count was 3%, with a platelet count of 122,000/cu. mm. (normal, 150,000-300,000). The sickle-cell test and the direct and indirect Coombs' tests were negative. The serum bilirubin was 2.1 mg/100 ml. blood total with a one minute direct reacting level of 0.1 mg.Examination of the spinal fluid revealed no ab¬ normalities. A bone marrow examination revealed erythroid hyperplasia. X-rays of the skull, cervical spine, chest, and pelvis were interpreted as normal. A carotid angiogram was noninformative, and electroencephalograms on several occasions revealed evidence of a focal disturbance in the left frontal area.A pneumoencephalogram revealed partial filling of the ventricular system with some cortical collection of air in the sulci on the left side, which was interpreted as possible cortical atrophy.The patient was given several blood transfusions, and the abnormal neurological signs returned to normal. On discharge from the hospital, the child was placed on a liquid iron medication.Three months later the patient was readmitted to the hospital for réévaluation. Fatigue was pres¬ ent, and a mild icterus had been noted recently.The liver was palpable 2 cm. below the right costal margin : the remainder of the physical exam¬ ination was normal.There was now a pancytopenia, with 7.2 gm. of hemoglobin per 100 ml., 4950 white blood cells ...
