ABSTRACT
CASE REPORT: We report the case of an infant with septo-optic dysplasia, or Morsier's syndrome, which is a condition affecting the central nervous system that can only be confirmed by means of neuroimaging. This syndrome involves hypoplasia of one or both optic nerves, absence of septum pellucidum, agenesis of the corpus callosum, cerebellar atrophy, ventricular dilatation and brain cysts, together with ectopic, aplastic or hypoplastic neurohypophysis. CONCLUSIONS: It is an infrequent disease and its causation is uncertain, although the predominant hypothesis suggests a genetic foundation. The mechanism by which it is transmitted by inheritance is unknown. The age of the mother is characteristically low; it is known that over half the children affected by this condition were born to mothers below the age of 20. It may be accompanied by liver damage and it is essential to establish a diagnosis and treatment as early as possible. Prognosis is general favourable.
Subject(s)
Septo-Optic Dysplasia/diagnosis , Child, Preschool , Female , Humans , Infant , Septo-Optic Dysplasia/pathologySubject(s)
Adenoma, Chromophobe/complications , Diagnostic Errors , Pigment Epithelium of Eye/abnormalities , Pituitary Neoplasms/complications , Adenoma, Chromophobe/diagnosis , Adenoma, Chromophobe/radiotherapy , Adenoma, Chromophobe/surgery , Adult , Amenorrhea/etiology , Colonic Polyps/complications , Combined Modality Therapy , Female , Hormone Replacement Therapy , Humans , Hypertrophy/congenital , Hypopituitarism/drug therapy , Hypopituitarism/etiology , Optic Atrophy/etiology , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/radiotherapy , Pituitary Neoplasms/surgery , Polycystic Ovary Syndrome/diagnosis , Retinitis Pigmentosa/diagnosisABSTRACT
During May 1998, we conducted a case-control study of 357 participants from 60 households during an outbreak of acute bartonellosis in the Urubamba Valley, Peru, a region not previously considered endemic for this disease. Blood and insect specimens were collected and environmental assessments were done. Case-patients (n = 22) were defined by fever, anemia, and intra-erythrocytic coccobacilli seen in thin smears. Most case-patients were children (median age = 6.5 years). Case-patients more frequently reported sand fly bites than individuals of neighboring households (odds ratio [OR] = 5.8, 95% confidence interval [CI] = 1.2-39.2), or members from randomly selected households > or = 5 km away (OR = 8.5, 95% CI = 1.7-57.9). Bartonella bacilliformis isolated from blood was confirmed by nucleotide sequencing (citrate synthase [g/tA], 338 basepairs). Using bacterial isolation (n = 141) as the standard, sensitivity, specificity, and positive predictive value of thin smears were 36%, 96%, and 44%, respectively. Patients with clinical syndromes compatible with bartonellosis should be treated with appropriate antibiotics regardless of thin-smear results.
