Differential Diagnosis
The patient's presentation suggests a neurodevelopmental disorder with significant motor and cognitive impairment. The following differential diagnoses are considered:
- Single most likely diagnosis
- Cerebral Palsy (CP): The patient's increased muscle tone, ankle clonus, and extensor plantar responses, along with the presence of periventricular leukomalacia on MRI, are highly suggestive of CP. The history of developmental delay, difficulty swallowing, and absence of typical reflexes also support this diagnosis.
- Other Likely diagnoses
- Static Encephalopathy: This condition is characterized by a non-progressive brain injury, which could be due to various factors, including prenatal or perinatal insults. The patient's developmental delay, increased muscle tone, and presence of periventricular leukomalacia are consistent with this diagnosis.
- Global Developmental Delay: This diagnosis is considered due to the patient's significant delay in achieving developmental milestones, including gross motor, fine motor, and cognitive skills.
- Do Not Miss
- Congenital Infections (e.g., CMV, toxoplasmosis, rubella): Although less likely, these infections can cause significant neurodevelopmental impairment and should be considered, especially given the patient's presentation and the presence of periventricular leukomalacia.
- Metabolic Disorders (e.g., mitochondrial disorders, amino acid disorders): These conditions can present with developmental delay, increased muscle tone, and other systemic symptoms, making them important to consider in the differential diagnosis.
- Rare diagnoses
- Rett Syndrome: This genetic disorder is characterized by significant developmental delay, loss of motor skills, and stereotypic hand movements. Although the patient's presentation does not fully align with Rett Syndrome, it is a rare condition that should be considered in the differential diagnosis.
- Angelman Syndrome: This genetic disorder is characterized by developmental delay, ataxia, and seizures. The patient's presentation does not fully align with Angelman Syndrome, but it is a rare condition that should be considered in the differential diagnosis.
The strongest risk factor for the development of this patient's condition is A. Preterm birth, as it is a well-established risk factor for cerebral palsy and periventricular leukomalacia.