Differential Diagnosis for a 10-month-old Girl with Delayed Standing and Hypertonia
- Single most likely diagnosis:
- Cerebral Palsy (CP): The patient's history of preterm birth, hypertonia, and significant resistance to passive extension in the lower extremities, along with brisk patellar reflexes and a positive Babinski reflex, are all consistent with cerebral palsy. The presence of equinovarus deformities also supports this diagnosis, as it is a common finding in patients with CP.
- Other Likely diagnoses:
- Spastic Diplegic Cerebral Palsy: This is a subtype of cerebral palsy characterized by spasticity and weakness in the legs, which is consistent with the patient's symptoms of dragging her legs and having significant resistance to passive extension.
- Developmental Delay: The patient's delayed standing and mild hypertonia of the upper extremities could also be indicative of a developmental delay, although the presence of other signs such as brisk reflexes and equinovarus deformities suggests a more specific diagnosis like cerebral palsy.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed):
- Spinal Cord Injury or Malformation: Although less likely, a spinal cord injury or malformation could present with similar symptoms, including hypertonia and weakness in the lower extremities. Missing this diagnosis could have significant consequences, including delayed treatment and potential worsening of the condition.
- Metabolic or Genetic Disorders: Certain metabolic or genetic disorders, such as muscular dystrophy or spinal muscular atrophy, could also present with delayed standing and hypertonia. These conditions often have significant implications for the patient's quality of life and lifespan, making them crucial not to miss.
- Rare diagnoses:
- Rett Syndrome: This is a rare genetic disorder that affects brain development and is characterized by intellectual disability, seizures, and loss of motor skills. Although the patient's symptoms do not entirely align with Rett syndrome, it is a rare condition that could be considered in the differential diagnosis.
- Arthrogryposis Multiplex Congenita: This is a rare condition characterized by multiple joint contractures and deformities, which could potentially explain the patient's equinovarus deformities. However, the presence of other signs such as hypertonia and brisk reflexes makes this diagnosis less likely.