182k views
3 votes
3wk old male with SEIZURE, truncus arteriosus, MICROGNATHIA (undersized jaw). dx? also see what? genetic defect? types in infxn in childhood?

User AleXzpm
by
7.9k points

1 Answer

1 vote

Final answer:

A constellation of symptoms including seizures, congenital heart defect, and micrognathia in a newborn could point to a genetic disorder, with Prader-Willi Syndrome as one potential diagnosis. Genetic testing is advisable to identify the specific defect, and infections in childhood should be closely monitored due to increased risk.

Step-by-step explanation:

The symptoms described, such as seizure, truncus arteriosus, micrognathia (undersized jaw), along with other symptoms such as temperature instability, apnea, bradycardia, hypotension, feeding difficulty, irritability, limpness, bulging fontanel, stiff neck, opisthotonos, and hemiparesis could suggest a genetic disorder. The presence of seizures in the medical history further supports this possibility. Genetic testing can provide a diagnosis and help identify the specific genetic defect responsible for these symptoms.

Behaviors such as lack of muscle tone, poor sucking behavior from birth to 2 years of age, and developmental delays occurring between 6 and 12 years can also be indicative of the genetic disorder Prader-Willi Syndrome (PWS). PWS is characterized by excessive eating and cognitive deficits usually occurring a little later in development. It's essential to be vigilant for types of infections in childhood that can complicate the condition, some of which can be fatal.

User Pentadecagon
by
8.6k points