1102 - Following in Her Footsteps: Deciphering an Unusual Gait and Uncovering Porencephaly in a Four-Year-Old - A Case Report

Thursday, February 22, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

SB

Spencer Brodsky, MD

PM&R Resident, PGY2
Montefiore Medical Center, Albert Einstein College of Medicine
Bronx, New York, United States

Co-Author(s)

JY

Jessi Yu, MD

Pediatric PM&R Fellow, PGY5
Montefiore Medical Center, Albert Einstein College of Medicine
Bronx, New York, United States
MD

Monika Desai, MD

Division Chief of Pediatric Rehabilitation Medicine
Montefiore Medical Center, Albert Einstein College of Medicine
Bronx, New York, United States

Case Diagnosis: Spastic Hemiplegic Cerebral Palsy

Case Description: A 4-year-old female was referred to our clinic for gait evaluation, due to persistent walking issues and recent falls at school. She was born full term and without complications. Upon presentation, she exhibited a high steppage gait characterized by the inability to dorsiflex her right foot. Additional exam findings included mild right ankle spasticity, right tibialis anterior weakness, right posterior tibial tendon tightness, and a right foot equinovarus stance. Neurological findings included lower extremity hyperreflexia and right-sided ankle clonus. MRI revealed a large (4.0 x 7.1 x 2.9 cm) porencephalic cyst in the left frontal and parietal lobe, communicating with the left lateral ventricle and exerting a mass effect on the lateral ventricles, coupled with signs of a prior hemorrhage and corpus callosum thinning. We initiated a multidisciplinary approach to management, incorporating physical therapy to focus on gait and lower limb stretching, fabrication of ankle-foot orthoses, and collaboration with neurology.

Discussions: Cerebral palsy (CP) is the most common pediatric motor disability, encompassing numerous etiologies that involve early damage to the developing brain. Early identification and intervention is crucial to improving functional outcomes. CP is often on the differential in children with complicated birth histories or who demonstrate delayed milestones, and most cases are diagnosed by age 2. Our case illustrates a deviation. Here, a 4-year-old with a non-complicated birth history presented with persistent gait issues, prompting deeper investigation. Her MRI revealed porencephaly, a rare cystic defect in the cerebral hemisphere that typically occurs following an early vascular infarction. She requires close multidisciplinary follow up, given evidence of a prior hemorrhage and potential genetic correlations with COL4A1/COL4A2 mutations.

Conclusions: This case emphasizes the critical role of a vigilant assessment and a multidisciplinary approach in diagnosing and treating children with atypical or potentially mild presentations of cerebral palsy.