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Shayna Dooling, MD
Pediatric Infectious Diseases Fellow
Johns Hopkins University School of Medicine, United States
Disclosure information not submitted.
Loka Thangamathesvaran, MD
Fellow
Johns Hopkins University School of Medicine, United States
Disclosure information not submitted.
Aaron Priluck, MD
Fellow of Opthalmology
Johns Hopkins University School of Medicine, United States
Disclosure information not submitted.
Erica Prochaska, MD
Pediatric Infectious Diseases Fellow
Johns Hopkins University School of Medicine, United States
Disclosure information not submitted.
Sophia Cai, MD
Assistant Professor of Ophthalmology
Johns Hopkins University School of Medicine, United States
Disclosure information not submitted.
Sanjay Jain, MD
Professor of Pediatrics
Johns Hopkins University School of Medicine, United States
Disclosure information not submitted.
Eric Jackson, MD
Associate Professor of Pediatric Neurosurgery
Johns Hopkins University School of Medicine, United States
Disclosure information not submitted.
Corina Noje, MD
Assistant Professor Pediatrics
Johns Hopkins Hospital, United States
Disclosure information not submitted.
Title: Congenital Toxoplasmosis and the Developing Brain
Case Report Body:
Introduction: CNS sequelae of congenital toxoplasmosis include ventriculomegaly, hydrocephalus, chorioretinitis, intracranial calcifications, and seizures. Disease severity is inversely related to the fetal gestational age at the time of maternal primary infection.
Description: An 8-week-old full term male presented with failure to thrive (weight 3rd%; height 3rd%; head circumference (HC) 16th %) and progressive lethargy. He was Rhino/Enterovirus positive and admitted inpatient. Initial workup included brain MRI notable for supratentorial ventriculomegaly, aqueductal stenosis, thinning of the corpus callosum, cystic encephalomalacia, and periventricular white matter loss. Neurosurgical intervention was deferred given stable HC, soft full fontanelles, and minimally splayed suture. The presence of brainstem lesions was unusual, thus the concern for underlying pathogenesis beyond ventriculomegaly. On hospital day three, he developed large volume urine output (10ml/kg/hr), hypernatremia (Na 160 mmol/L), and urine studies consistent with diabetes insipidus (DI), so was transferred to the pediatric ICU for electrolyte management and vasopressin initiation. Given concern for hypothalamic-pituitary-adrenal axis disruption, additional labs were acquired including random cortisol (0.3mg/dL) and thyroid studies (fT4 0.6 ng/dL). By hospital day four, he developed clinical seizures requiring phenobarbital load and maintenance therapy. Ophthalmologic evaluation demonstrated bilateral optic nerve pallor with chorioretinitis and inactive pigmented scars peripherally in both eyes, suggestive of congenital ocular toxoplasmosis. TORCH panel was sent and Toxoplasma gondii serology was confirmed positive. He was started on a 12-month course of pyrmethamine, sulfadiazine, and leucovorin. Subsequently, the parents revealed that during the first trimester of pregnancy they consumed raw deer heart- part of a ritualistic hunting ceremony.
Conclusion: A multidisciplinary approach to elucidate the etiology of this patient’s ventriculomegaly, cystic encephalomalacia, panhypopituitarism, and seizures stood at the forefront of our diagnostic success. Ventriculomegaly with associated aqueductal stenosis has various etiologies, not all requiring emergent neurosurgical intervention. Early TORCH screening should be considered.