Blueberry Muffin Syndrome Case Studies
Dear [Name],
Thank you for referring [Name], a 3-month-old ambidextrous male for evaluation of "congenital CMV." Please allow me to review the history in my records.
The patient is accompanied by his parents. According to the patient's mother the child was born with "blueberry muffin syndrome." He spent approximately a month in the neonatal ICU with an enlarged liver and spleen, and _____(s/l resuscitated) multiple platelet transfusions. Mother states that a small incidental cyst was found in the posterior fossa.
The patient has not had any seizures. There has been no unexplained changes in his level of consciousness. He has been referred to a developmental stimulation program, but has not yet begun therapy.
The pregnancy with the patient was 36 weeks, with a delivery by cesarean section for congenital CMV. The child was only 3 pounds 15 ounces at birth. Neonatal course is explained above. The child had no neonatal seizures. Developmentally, he is not yet rolling over. No sounds have been heard. The child's only medical problem is his congenital CMV.
He is not on any medications, and has no known drug allergies.
Family history is negative for similar symptoms.
The patient lives at home with his parents.
Review of systems is negative for any known ophthalmologic, ENT, cardiovascular, respiratory, gastrointestinal, …show more content…
genitourinary, musculoskeletal, skin, psychiatric, endocrine, hematologic, or immunologic problems.
EXAMINATION
Today his weight was 3.6 kg and head circumference 37.5 cm.
He is afebrile, with a heart rate of 130, and respiratory rate of 16. His general physical examination was unremarkable. He has no hepatomegaly, ______(..istic), or dysmorphisms. Peripheral pulses are normal. The comprehensive neurological examination then included testing of skull, spine, and meninges; cranial nerve ______; muscle mass, tone, and strength; sensation; deep tendon reflexes; and plantar responses was normal. The patient's tone was moderately high. Deep tendon reflexes appeared brisk, but with no reduplication. The patient did not visually fix on my
face.
In summary, [Name] is a 3-month-old male with congenital CMV. I do not feel that any further neurodiagnostic testing need be performed. Certainly the patient should be enrolled in an early intervention program. I did discuss epilepsy with the family today. If the patient does begin having clinical seizures he should have an _____(supra...) EMG and return to our office at that time.
I gave the family handouts about congenital infections and others about epilepsy today, and discussed them with them. I also discussed the likely developmental outcomes with the family.
Thirty two minutes of a 60 minute appointment were spend in counselling and coordination of care. Thank you for allowing me to share in the care of this young man.
Yours sincerely,
[Name]
Thank you for referring [Name], a 3-month-old ambidextrous male for evaluation of "congenital CMV." Please allow me to review the history in my records.
The patient is accompanied by his parents. According to the patient's mother the child was born with "blueberry muffin syndrome." He spent approximately a month in the neonatal ICU with an enlarged liver and spleen, and _____(s/l resuscitated) multiple platelet transfusions. Mother states that a small incidental cyst was found in the posterior fossa.
The patient has not had any seizures. There has been no unexplained changes in his level of consciousness. He has been referred to a developmental stimulation program, but has not yet begun therapy.
The pregnancy with the patient was 36 weeks, with a delivery by cesarean section for congenital CMV. The child was only 3 pounds 15 ounces at birth. Neonatal course is explained above. The child had no neonatal seizures. Developmentally, he is not yet rolling over. No sounds have been heard. The child's only medical problem is his congenital CMV.
He is not on any medications, and has no known drug allergies.
Family history is negative for similar symptoms.
The patient lives at home with his parents.
Review of systems is negative for any known ophthalmologic, ENT, cardiovascular, respiratory, gastrointestinal, …show more content…
genitourinary, musculoskeletal, skin, psychiatric, endocrine, hematologic, or immunologic problems.
EXAMINATION
Today his weight was 3.6 kg and head circumference 37.5 cm.
He is afebrile, with a heart rate of 130, and respiratory rate of 16. His general physical examination was unremarkable. He has no hepatomegaly, ______(..istic), or dysmorphisms. Peripheral pulses are normal. The comprehensive neurological examination then included testing of skull, spine, and meninges; cranial nerve ______; muscle mass, tone, and strength; sensation; deep tendon reflexes; and plantar responses was normal. The patient's tone was moderately high. Deep tendon reflexes appeared brisk, but with no reduplication. The patient did not visually fix on my
face.
In summary, [Name] is a 3-month-old male with congenital CMV. I do not feel that any further neurodiagnostic testing need be performed. Certainly the patient should be enrolled in an early intervention program. I did discuss epilepsy with the family today. If the patient does begin having clinical seizures he should have an _____(supra...) EMG and return to our office at that time.
I gave the family handouts about congenital infections and others about epilepsy today, and discussed them with them. I also discussed the likely developmental outcomes with the family.
Thirty two minutes of a 60 minute appointment were spend in counselling and coordination of care. Thank you for allowing me to share in the care of this young man.
Yours sincerely,
[Name]