Doctor insights on:
Peutz Jeghers Syndrome In Children
My sis has high level of prolactin controlled by Dostinex, (cabergoline)dose that mean she has pituitary gland tumor? Is that related to her Peutz-Jeghers syndrome?
Carney complex: Peutz-Jaeghers (P-J) syndrome is not classically associated with pituitary tumors; there is a syndrome called Carney complex that shares features / is similar to P-J syndrome and without genetic testing, they could be confused. Carney complex is associated with pituitary tumors. 80-95% of patients with P-J syndrome have mutation in STK11 (LKB1). ...Read more
My sis 24old has peutz-jeghers syndrome, she has to do pep-test but she is virgin, is there other way to check the cervix? Blood or urine test? Or MRI?
Pap options: Your sister is at VERY low risk for cervical disease, but PJ syndrome can have other neoplastic manifestations in the ovaries and bowel, so if the intent is to screen for those, then US, colonoscopy and other approaches are available. But pelvic exam is the low cost way to screen for ovarian enlargement. ...Read more
For an assessment :
Of the child's developmental needs & toilet-training readiness, if < 3 yrs. Old, call Pam Barton, Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. Old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106.
At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more
Many issues: This is a descriptive term indicating an infant or child who fails to meet the parameters for age and size and weight and in fact is falling down. This is an index of problems that need explanation. Categories: child abuse, malabsorption, severe infection, chronic illness, cancer, blood dyscrasias, inherited issues. Your pediatrician should be consulted immediately to sort this out. ...Read more
DS Phenotype: Flattened face, upward-slanting eyes, skin folds at inner corners of eyes, transverse palmar crease, & more. Many have congenital anomalies of the heart, intestine, skeletal system & other organs, along with hearing loss, vision problems & certain blood & neurological disorders. Intellectual Disability is usually mild-moderate. Guidelines for medical & developmental care are well-established. ...Read more
Ensure quality sleep: Sleep disorders are common in children with asperger's. It is important to ensure that your child has a regular sleep routine and an appropriate amount of sleep. If he/she is struggling with insomnia it is worth bringing to your doctor's attention. ...Read moreSee 3 more doctor answers
Yes.: :simply discuss this issue with your ob/gyn specialists to allay your concerns! ...Read more
No: As a phenomenologically defined entity, and considering that no reliable universal genetic marker was identified, it is impossible to predict with any level of certainty as of now. What is possible though is the diagnostic evaluation of a kid already exhibiting behaviors. ...Read more
ACOG charts show the: Risk of having a fetus with a Trisomy 21, Down Syndrome, at prenatal diagnosis vs. the risk of having a live-born infant with DS because ~ 25% are lost. If there is no family history or prior infant with DS, at age 42 at delivery, the risk is 1/63; risk at 16 weeks' gestation is 1/50 – 1/55. Risk of any chromosomal disorder at term is 1/42. If 43 at term, DS risk is 1/49; of any trisomy, 1/33. ...Read more
No good data: This is not quite rare, but also not common. It is more often reported in children but can occur at any age. It is not a mental illness, but a physical perceptual distortion and is usually not part of a dangerous condition. It may be associated w/ migraines or tle and a neurologist might help. Try not to worry about 'craziness' — it is not that. Wish I could offer #s, but I can't. ...Read moreSee 1 more doctor answer
Very rare: This syndrome, where objects or the person's own body appear larger or smaller than normal, is very rare. Some sources say only about 300 adults & children in the us have this. Another source said 9% of teens had transient experiences of micropsia. It can be a migraine equivalent, & can also appear in conditions like seizures, CNS infections, brain tumors, drug use, macular degeneration, etc. ...Read more
Infertility: It may be primary or secondary infertiliy ...Read more
Tachybrady syndrome: TachyBrady Syndrome can occur in young children albeit rare. Infants may present with poor feeding or easy fatigability, which may also be evident in toddlers and older children. Laboratory studies include electrolytes, thyroid studies, echocardiogram, holter monitoring in older children, EP studies. Patients with symptoms require pacemakers and avoidance of medications that can exacerbate the prob. ...Read more
Doubt it would Hapn: While females with ds are capable of reproduction(with difficult pregnancies) males with few exceptions are not. For a male to be capable, I would expect him to be a partially affected mosaic ds & fertility would depend on the tissues of his body that has ds info. Having family support thru their lives is a great asset to anyone with ds or any impairment. ...Read more