Vertical transmission of human African trypanosomiasis: Clinical evolution and brain MRI of a mother and her son

A 22-year-old female was referred to our hospital from another in May 2013 to investigate a probable leukodystrophy. She was a political refugee from the Democratic Republic of Congo. Before arriving in France in 2010, she had spent 3 years in Angola (Bengo). She was the mother of a 13-month-old son (born in France in April 2012 after normal pregnancy, and having never traveled). She initially entered the hospital for agitation and drowsiness. Physical examination showed slowing of ideomotor function, general hypotonia, clonic limb movements, and increased deep tendon reflexes. Brain MRI revealed bilateral T2 hyperintensities of the periventricular white matter (with perivascular and leptomeningeal enhancement), basal ganglia, and posterior fossa, with global brain atrophy for her age (Fig 1A–1D). An electroencephalogram showed symmetrical frontotemporal theta and delta waves without paroxystic activity. Blood analyses showed normochromic, normocytic, nonregenerative anemia related to minor iron deficiency (9.5 g/dL Hb, mean cell volume of 81 fL, 31.6 g/dL mean corpuscular hemoglobin, 28 G/L reticulocytes, normal hemoglobin electrophoresis), neutropenia (4.2 G/L leukocytes, 1.36 G/L neutrophil granulocytes, 0.14 G/L eosinophil granulocytes, 0.02 G/L basophil granulocytes, 2.16 G/L lymphocytes, and 0.53 G/L monocytes). Cerebrospinal fluid (CSF) analysis revealed lymphocytic pleiocytosis (280 white cells/μL, 90% lymphocytes), a normal glucose level (3.29 mmol/L), elevated lactate (2.65 mmol/L), protein (0.73 g/L), and IgG (0.272 g/L) levels, and an elevated IgG index (2.94). Investigations for infection were negative for tuberculosis (negative PCR and cultures on serum and CSF), herpes simplex virus (HSV) (PCR on CSF), HIV, viral hepatitis B and C, cytomegalovirus (CMV), human herpes virus (HHV) (serum antibody tests and/or search for DNA), JC virus (JCV) (PCR on serum), syphilis, brucellosis, coxiellosis, chlamydiosis, bartonellosis, borreliosis, mycoplasma, toxoplasmosis, histoplasmosis (serum antibody tests), and cryptococcosis (serum antigenic test). Tumoral marker and metabolic investigations were normal. Immunological investigations for lupus, Sjogren’s syndrome, type 1 diabetes, thyroiditis, and celiac disease were negative. Genetic mutations such as NOTCH3 and COL4A1 were absent. During the same time, her son was hospitalized in the pediatrics department of our hospital for psychomotor retardation. Physical examination revealed delayed growth (weight −1.38 SD, height −2.25 SD), axial and segmental hypotonia, weak deep tendon reflexes, dystonic facial