Infantile choroidocerebral calcification syndrome

Infantile choroidocerebral calcification syndrome, also known as Infantile Brain Calcification or Pseudo-TORCH syndrome, is an extremely rare genetic disorder characterized by intracranial (brain) calcifications and ocular abnormalities that present in infancy. The condition mimics the clinical features of congenital TORCH infections (Toxoplasmosis, Other agents, Rubella, Cytomegalovirus, Herpes simplex) but occurs without evidence of an infectious cause. Key body systems affected include the central nervous system and the eyes. Neurological features typically include microcephaly (abnormally small head), cerebral calcifications visible on imaging, seizures, and significant developmental delay or intellectual disability. Ocular findings may include chorioretinal abnormalities and other eye involvement. The condition is present from birth or early infancy, and affected infants often show poor neurological development, spasticity, and failure to thrive. Brain imaging reveals characteristic calcifications, particularly in the basal ganglia and periventricular regions, along with possible cerebral atrophy and white matter abnormalities. Some cases may also present with hepatosplenomegaly and thrombocytopenia, further mimicking a congenital infection. There is currently no specific curative treatment for infantile choroidocerebral calcification syndrome. Management is supportive and symptomatic, focusing on seizure control with antiepileptic medications, physical and occupational therapy for developmental support, and ophthalmologic monitoring. Genetic counseling is recommended for affected families. The prognosis is generally poor, with significant neurological impairment in most reported cases.

Common questions about Infantile choroidocerebral calcification syndrome