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Doctor insights on: Macrocephaly Multiple Lipomas Hemangiomata Syndrome

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How serious are bilateral choroid plexus cysts in fetus?

How serious are bilateral choroid plexus cysts in fetus?

Usually normal: Most babies with choroid plexus cysts in the brain are normal, and almost all cysts go away by the end of the second trimester. But cysts can also be a marker for a problem called trisomy 18, which means an extra chromosome 18 in every cell of a baby's body. A maternal fetal medicine doctor can do an ultrasound and look for any other sign of trisomy 18. ...Read more

Dr. Austina Cho
14 doctors shared insights

Large Head (Definition)

Large heads in infancy need to be followed by pedi MD over time. By itself, can be due to parental large head. If it is out of range and no family history and other things are occurring, i.e. delayed speech and behaviors this can be a soft sign to autism spectrum disorders. If increasing head size over time, can also be due to CSF fluid leaks causing that ...Read more


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Are teratoma tumors genetic?

Are teratoma tumors genetic?

Some are: Teratomas arise from cells that can differentiate in to a host of tissue types and can be associated with chromosomal (genetic) abnormalities or with inherited syndromes. However, vast majority are sporadic and will not be passed on to the kids. ...Read more

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Neurofibroma, swannoma. Large, on spine. Thoracic T8 T9. Infringing. How dangerous?

Neurofibroma, swannoma. Large, on spine. Thoracic T8 T9. Infringing. How dangerous?

Serious: If it is impinging on the spinal cord at that level (T8-9) it needs surgical evaluation. Further growth could cause sensory symptoms, motor loss or even paralysis. Thanks for trusting HealthTap! ...Read more

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What are carcinoid tumors / syndrome?

What are carcinoid tumors / syndrome?

Neuroendocrine tumor: It is a relatively benign type of tumor that can secrete a variety of hormones, most notably serotonin. They are most commonly found in the gut or the lungs. They do not come from the lining of the lungs or the gut (as adenocarcinomata do). They come from a different line of cells. Carcinoid syndrome occurs when large amounts of serotonin get into the bloodstream, assoc with flushing and diarrhea. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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What are von hippel - lindau disease and lennox/gastaut syndrome.?

What are von hippel - lindau disease and lennox/gastaut syndrome.?

Syndromes: Von Hippel-Lindau syndrome is a genetic disorder that leads to the developement of many different types of tumors. Lennox Gastaut syndrome is a disorder in which the victim has many seizures. Both are severe, and a person with either one should have a doctor familiar with its treatment ...Read more

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Have hashimoto's; demyelinating brain lesions, one atypical; benign vertebral lesions, one atypical hemangioma. R these connected, or possible MS too?

Have hashimoto's; demyelinating brain lesions, one atypical; benign vertebral lesions, one atypical hemangioma. R these connected, or possible MS too?

Not connected: Hemangiomas and multiple sclerosis lesions can be difficult to differentiate on mri. Brain lesions of the demyelinating type are usually caused by multiple sclerosis but need to be diagnosed carefully, especially when atypical. Hemangiomas and multiple sclerosis are not connected. ...Read more

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Are chiari 1 malformations ever acquired from a head injury or are they something people are born with? Is a 8mm chiari 1 malformation concerning?

Are chiari 1 malformations ever acquired from a head injury or are they something people are  born with? Is a 8mm chiari 1 malformation concerning?

Typically congenital: Many of these are congenital. It is essentially an area of your brain (cerebellum) that is partially herniated thru the large hole in your skull (foramen magnum). Some can be acquired (type 1) thru infection or trauma or things that result in elevated cranial pressure. Many congential type 1's are not symptomatic. If having c/o of headaches, weakness, or other symptoms i would see a neurosurg. ...Read more

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How can multiple myeloma be confused with atypical spinal hemangioma?

How can multiple myeloma be confused with atypical spinal hemangioma?

Hmmm: Conceivably someone may have an x-ray of the spine that shows a "lesion" and the radiologist may not know for sure what it is but i would think further workup should be able to differentiate between the two. ...Read more

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Are pelvic tumors, like malignant ovarian tumors, genetic?

Are pelvic tumors, like malignant ovarian tumors, genetic?

To some extent: Almost all tumors have a genetic component in that heredity plays a role in the susceptibility to cancers. In the case of ovarian cancer there are a few well characterized genetic markers that portend higher incidence, e.g., brca 1 and brca 2. ...Read more

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Are developmental, familial and congenital anomalies different?

Are developmental, familial and congenital anomalies different?

Not really: Developmental = failure to meet developmental milestones such as sitting up, walking etc. This may be aquired from e.g. Birth injury. Familial means that it is a trait within a family, presumably genetic. Congenital is "accidental" with no known cause. ...Read more

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What percentage of ependymoma brain tumors are benign?

What percentage of ependymoma brain tumors are benign?

0%: All ependymoma brain tumors are technically malignant, meaning the cells are cancer and can grow into the surrounding brain tissue. However, most of these tumors (over 90%) are curable because the tumor is confined to one area, is slow-growing, and can be removed by surgery. Sometimes radiation alone is used for slow-growing brain ependymomas if surgery can't be performed. ...Read more

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Explain? Rathe's cleft, epidermoid & arachnoid cysts are in diff., scatrd. foci T2 prolongation affecting the periventricular white matr. bi-lat 4-6mm

Explain? Rathe's cleft, epidermoid & arachnoid cysts are in diff., scatrd. foci T2 prolongation affecting the periventricular white matr. bi-lat 4-6mm

A bit more needed: I suggest you review the report either with the doctor who ordered it or a specialist they refer you to or arrange a virtual visit during which you share the whole report The meaning will be easier to understand with the whole report in hand. Cyst is a fluid filled space, Periventricular - around the ventricles. "Arachnoid" "epidermoid" are locations ...Read more

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How alike are pcos and non-classical congenital adrenal hyperplasia?

How alike are pcos and non-classical congenital adrenal hyperplasia?

Symptoms only: Pcos and nccah have pretty much the same symptoms; irregular cycles and symptoms of too much male hormone. Cah however is caused by a missing enzyme and pcos is usually a metabolic problem. ...Read more

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What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more

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mri found subcutaneous cystic lump@lvl of coccyx,9mm,may represent sebaceous cyst? clinical correlation needed?it's immobile, do u thinkits sebaceous?

mri found subcutaneous cystic lump@lvl of coccyx,9mm,may represent sebaceous cyst? clinical correlation needed?it's immobile, do u thinkits sebaceous?

May be: It is not feasible to provide a meaningful opinion without examining you and your imaging studies. The doctor who ordered the MRI is in a better position to advise as s/he knows more about your health.
Wish you good health! ...Read more

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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more

Dr. Guillermo Philipps
25 doctors shared insights

Macrocephaly (Definition)

Children with macrocephaly have a head circumference (the measurement around the widest part of the head) that is greater ...Read more


Dr. Walter Husar
14 doctors shared insights

Enlarged Head (Definition)

is an abnormally large head which can be associated with a ...Read more