Chiari III malformation with ruptured encephalocele: a case report and review of literature.

Introduction and Importance: Chiari malformation type III (CM III) is the rarest and most severe form of Chiari malformations, involving herniation of the cerebellum and/or brainstem through an occipital or high cervical encephalocele. CM III is associated with severe neurological impairment and a poor prognosis due to extensive brain malformations. Surgical repair is the primary treatment to prevent complications like meningitis or encephalocele rupture. Case Presentation: A 2-month-old female baby presented with a ruptured occipital encephalocele and cerebrospinal fluid leakage. The swelling had been present since birth. She was born at term via emergency cesarean section to a primigravida mother who did not take antenatal folic acid. MRI revealed CM III. Surgery was initially delayed due to baby's low birth weight. After rupture, emergency excision and repair were performed successfully. Case Discussion: CM III was characterized by herniation of brain structures through a high cervical or low occipital encephalocele. It accounts for less than 1% of cases and often presents at birth with neurological impairments and associated anomalies such as hydrocephalus and syringomyelia. Postnatal MRI shows herniated brain tissue and related abnormalities. Surgical repair is the main treatment, especially urgent if the encephalocele ruptures, to prevent infection and further complications. Conclusion: CM III is a rare and severe birth defect where brain tissue protrudes through an opening in the skull, often causing serious neurological problems. Early diagnosis with imaging and prompt surgery, especially if the protrusion ruptures, are crucial to prevent complications.