Differential Diagnosis
- Single most likely diagnosis
- D) Prader-Willi syndrome: This diagnosis is the most likely due to the patient's history of compulsive eating, hypotonia, delayed speech and motor development, and physical characteristics such as almond-shaped eyes. Prader-Willi syndrome is a genetic disorder that typically presents with these features, including an insatiable appetite leading to obesity, which aligns with the patient being at the 98th percentile for weight.
- Other Likely diagnoses
- A) Angelman syndrome: Although less likely than Prader-Willi syndrome, Angelman syndrome shares some similarities, such as developmental delays and physical characteristics. However, it typically presents with more severe developmental delays, seizures, and a happy demeanor, which are not explicitly mentioned in the scenario.
- B) Down syndrome: Down syndrome could be considered due to the developmental delays and hypotonia. However, the specific combination of compulsive eating, almond-shaped eyes, and the absence of other typical Down syndrome features (e.g., flat facial profile, short neck) makes it less likely.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- None of the options provided directly fit into a "do not miss" category that would be deadly if missed in the traditional sense (e.g., infections, acute metabolic crises). However, it's crucial to consider and rule out other genetic syndromes and conditions that could have significant health implications if not properly managed.
- Rare diagnoses
- E) Rett disorder: Rett syndrome is a rare genetic disorder that mostly affects girls. It is characterized by severe developmental delays, but it typically presents with a regression of skills after a period of normal development, which is not described in the scenario.
- F) Williams syndrome: Williams syndrome is characterized by a distinctive "elfin" face, friendly demeanor, and developmental delays. While it's a possibility, the specific features mentioned (compulsive eating, almond-shaped eyes without mention of the typical Williams syndrome facial features) make it less likely.
- C) Fetal alcohol syndrome: Fetal alcohol syndrome could be considered due to developmental delays and growth issues. However, the specific pattern of compulsive eating and physical characteristics described does not align closely with fetal alcohol syndrome, which typically includes features such as short palpebral fissures, thin upper lip, and pre- and postnatal growth deficiencies.