Differential Diagnosis for 14-Month Female with Milestone Regression, Increased Tone, 3+ Reflexes, and Hemangioma over Fontanelle
- Single Most Likely Diagnosis
- Sturge-Weber Syndrome: This condition is characterized by a congenital facial hemangioma, neurological abnormalities, and glaucoma. The presence of a hemangioma over the fontanelle, increased tone, and milestone regression could be indicative of Sturge-Weber Syndrome, especially if the hemangioma is in the distribution of the trigeminal nerve.
- Other Likely Diagnoses
- Infantile Spasms: This condition is a form of epilepsy that can cause milestone regression and increased muscle tone. The presence of 3+ reflexes could be a sign of an underlying neurological condition such as infantile spasms.
- Tuberous Sclerosis Complex: This genetic disorder can cause skin lesions, seizures, and developmental delays. While not all cases present with hemangiomas, the combination of milestone regression, increased tone, and a possible skin lesion over the fontanelle warrants consideration.
- Do Not Miss Diagnoses
- Subdural Hematoma or Non-Accidental Trauma: Although less likely, it is crucial to consider the possibility of non-accidental trauma, especially if there are inconsistencies in the history or other signs of abuse. A subdural hematoma could cause increased intracranial pressure, leading to symptoms such as increased tone and milestone regression.
- Brain Tumor: A brain tumor, especially one located near the fontanelle, could cause increased intracranial pressure, leading to symptoms such as milestone regression, increased tone, and reflex changes.
- Rare Diagnoses
- PHACE Syndrome: This is a rare condition characterized by large facial hemangiomas, cerebral vascular anomalies, and other systemic features. While it could explain some of the symptoms, it is less common than other diagnoses listed.
- Neurocutaneous Melanosis: This rare condition involves melanocytic nevi and neurological abnormalities. It could potentially explain the hemangioma and neurological symptoms but is exceedingly rare.