Differential Diagnosis
The patient's symptoms of daily episodes of jerking movements, whole-body flexor spasm, and the presence of hypomelanotic macules suggest a neurocutaneous disorder. Here's a categorized differential diagnosis:
Single most likely diagnosis
- Tuberous Sclerosis Complex (TSC): The presence of hypomelanotic macules and episodes of whole-body flexor spasm (possibly infantile spasms) are highly suggestive of TSC. TSC is associated with subependymal nodules, which are a type of brain lesion.
Other Likely diagnoses
- Infantile Spasms: A condition characterized by sudden, brief contractions of one or more muscle groups, often associated with various underlying neurological disorders.
- Neurofibromatosis Type 1 (NF1): Although less likely, NF1 can present with skin manifestations and neurological symptoms. However, the specific combination of hypomelanotic macules and infantile spasms is more characteristic of TSC.
Do Not Miss
- None of the options provided (A, B, C, D) directly correlate with the clinical presentation except for the association with subependymal nodules in TSC. However, it's crucial to consider other neurocutaneous disorders that could present similarly, such as Sturge-Weber syndrome (associated with port-wine stain) or other conditions that might cause infantile spasms.
Rare diagnoses
- Other neurocutaneous syndromes: Such as incontinentia pigmenti or hypomelanosis of Ito, which could present with skin manifestations and neurological symptoms, including seizures or spasms.
- Mitochondrial disorders: Some mitochondrial disorders can present with seizures, spasms, and skin manifestations, although they are less likely given the specific combination of symptoms described.