What are the implications of cerebral calcifications with cerebellar hypoplasia?

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Last updated: April 22, 2025 • View editorial policy

Differential Diagnosis for Cerebral Calcifications with Cerebellar Hypoplasia

  • Single Most Likely Diagnosis + Congenital Infections (e.g., Toxoplasmosis, Cytomegalovirus, Rubella): These infections are known to cause cerebral calcifications and can also lead to cerebellar hypoplasia due to their impact on fetal brain development during pregnancy.
  • Other Likely Diagnoses + Aicardi-Goutières Syndrome: A rare genetic disorder characterized by cerebral calcifications, cerebellar hypoplasia, and other neurological abnormalities. + Congenital Disorders of Glycosylation: A group of genetic disorders that can lead to cerebellar hypoplasia and cerebral calcifications among other systemic and neurological symptoms. + Walker-Warburg Syndrome: A genetic disorder that affects brain and muscle development, characterized by cerebellar hypoplasia, cerebral calcifications, and other severe neurological abnormalities.
  • Do Not Miss Diagnoses + Tuberous Sclerosis Complex (TSC): Although TSC more commonly presents with subependymal giant cell astrocytomas and renal angiomyolipomas, cerebral calcifications can occur, and cerebellar hypoplasia might be seen in some cases. Missing this diagnosis could lead to delayed treatment of associated complications. + Neurofibromatosis Type 1 (NF1): While NF1 is primarily known for neurofibromas and café-au-lait spots, cerebellar abnormalities and cerebral calcifications can rarely occur, making it a diagnosis not to miss due to its implications for screening and management.
  • Rare Diagnoses + Cockayne Syndrome: A rare disorder characterized by an abnormal sensitivity to ultraviolet (UV) light, cerebral calcifications, and cerebellar atrophy, among other symptoms. + Lafora Disease: A rare genetic disorder that leads to seizures, cerebral calcifications, and progressive neurological deterioration, though cerebellar hypoplasia is less commonly highlighted as a feature. + Dysequilibrium Syndrome: A rare condition characterized by cerebellar hypoplasia and other neurological abnormalities, which might include cerebral calcifications in some cases.

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