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30 Cards in this Set

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  • Back
Describe Neurofibromatosis type I (NF1; von Recklinghausen disease)
1. NF1 is a relatively common autosomal dominant disorder caused by a mutation in the NF1 gene on chromosome 17q11.2 for the protein neurofibronin

2. Clinical findings include multiple neural tumors (called neurfibromas), which are widely dispersed over the body and reveal proliferation of all elements of a peripheral nerve, including neurites, fibroblasts, and Schwann cells of neural crest origin, numerous pigmented skin lesions (called cafe au lait spots), probably associated with melanocytes of neural crest origin, and pigmented iris hamartomas (called Lisch nodes)
Describe neurofibromin
Neurofibromin downregulates p21 ras oncoprotein so that the NF1 gene belongs to the family of tumor-suppressor genes
Describe Cafe au Lait spots
Pigmented skin lesions associated with melanocytes of neural crest origin. These are associated with Neurofibromatosis type I
Describe Lisch nodules
Pigmented iris hamartomas associated with Neurofibromatosis type I
Describe CHARGE association
1. A genetic disorder of unknown cause but seems to involve an insult during the second month of gestation probably involving neural crest cells

2. Clinical findings include coloboma of the retina, lens, or choroid; heart defects (eg, tetralogy of Fallot, VSD, patent ductus arteriosus); atresia choanae; retardation of growth; genital abnormalities in male infants (eg, cryptorchidism, microphallus); and ear abnormalities or deafness
Describe medullary carcinoma of thyroid
1. Medullary carcinoid of the thyroid is an endocrine neoplasm of the parafollicular (C) cells of neural crest origin that secrete calcitonin

2. The carcinoma cells are usually arranged in cell nests surrounded by bands of stroma containing amyloid
Describe Schwannomas
1. A schwannoma is a benign tumor of Schwann cells of neural crest origin

2. These tumors are well circumscribed, encapsulated masses that may or not be attached to the nerve

3. The most common location within the cranial vault is at the cerebellopontine angle near the vestibular branch of CN VIII (often referred to as an acoustic neuroma)

4. Clinical findings include tinnitus and hearing loss

5. CN V (trigeminal nerve) is also commonly affected
Describe the tumors of Schwannomas
These tumors are well circumscribed, encapsulated masses that may or not be attached to the nerve
Describe the most common location of Schwannomas
The most common location within the cranial vault is at the cerebellopontine angle near the vestibular branch of CN VIII (often referred to as an acoustic neuroma)
What are the clinical findings associated with Schwannomas?
Clinical findings include tinnitus and hearing loss
Describe Neurofibromatosis type I (NF1; von Recklinghausen disease)
1. NF1 is a relatively common autosomal dominant disorder caused by a mutation in the NF1 gene on chromosome 17q11.2 for the protein neurofibronin

2. Clinical findings include multiple neural tumors (called neurfibromas), which are widely dispersed over the body and reveal proliferation of all elements of a peripheral nerve, including neurites, fibroblasts, and Schwann cells of neural crest origin, numerous pigmented skin lesions (called cafe au lait spots), probably associated with melanocytes of neural crest origin, and pigmented iris hamartomas (called Lisch nodes)
Describe neurofibromin
Neurofibromin downregulates p21 ras oncoprotein so that the NF1 gene belongs to the family of tumor-suppressor genes
Describe Cafe au Lait spots
Pigmented skin lesions associated with melanocytes of neural crest origin. These are associated with Neurofibromatosis type I
Describe Lisch nodules
Pigmented iris hamartomas associated with Neurofibromatosis type I
Describe CHARGE association
1. A genetic disorder of unknown cause but seems to involve an insult during the second month of gestation probably involving neural crest cells

2. Clinical findings include coloboma of the retina, lens, or choroid; heart defects (eg, tetralogy of Fallot, VSD, patent ductus arteriosus); atresia choanae; retardation of growth; genital abnormalities in male infants (eg, cryptorchidism, microphallus); and ear abnormalities or deafness
Describe the cause of CHARGE association
A genetic disorder of unknown cause but seems to involve an insult during the second month of gestation probably involving neural crest cells
Describe the clinical findings of CHARGE association
Clinical findings include:
1. Coloboma of the retina, lens, or choroid
2. Heart defects (eg, tetralogy of Fallot, VSD, patent ductus arteriosus)
3. Atresia choanae
4. Retardation of growth
4. Genital abnormalities in male infants (eg, cryptorchidism, microphallus)
5. Ear abnormalities or deafness
Describe Waardenburg syndrome
1. Waardenburg syndrome (WS) is an autosomal dominant disorder

2. It is caused by a mutation in either the PAX3 gene on chromosome 2q35 (type I WS) for a paired box PAX3 transcription factor or the MITF gene on chromosome 3p12.3-p12.3 (type II WS) for microphthalmia-associated transcription factor

3. Clinical findings include malposition of the eyelid, lateral displacement of lacrimal puncta, a broad nasal root, heterochromia of the iris, congenital deafness, and piebaldism, including a white forelock and a triagular area of hypopigmentation
Describe the clinical findings of Waardenburg syndrome
Clinical findings include:
1. Malposition of the eyelid
2. Lateral displacement of lacrimal puncta
3. A broad nasal root
4. Heterochromia of the iris
5. Congenital deafness
6. Piebaldism, including a white forelock and a triangular area of hypopigmentation
Describe the cause of Waardenburg syndrome
A mutation in either of the PAX3 gene on chromosome 2q35 (Type I WS) for a paired box PAX3 transcription factor

The MITF gene on chromosome 3p12.3-p12.3 (Type II WS) for the microphthalmia-associated transcription factor
Describe Type I Waardenburg syndrome
Waardenburg syndrome caused by a mutation in either the PAX3 gene on chromosome 2q35 for a paired box PAX3 transcription factor
Describe Type II Waardenburg syndrome
Waardenburg syndrome caused by a mutation in the MITF gene on chromosome 3p12.3-p12.3 for the microphthalmia-associated transcription factor
When do the primary brain vesicles develop?
Week 4
Describe the development of primary brain vesicles
The three primary brain vesicles and two associated flexures develop during week 4
What are the primary brain vesicles and associated flexures?
1. Prosencephalon (forebrain)
2. Mesencephalon (midbrain)
3. Rhombencephalon (hindbrain)
4. Cephalic flexure (midbrain flexure)
5. Cervical flexure
Describe the prosencephalos
1. The forebrain
2. Gives rise to the telencephalon and diencephalon
Describe the mesencephalon
1. The midbrain
2. Remains as the mesencephalon
Describe the Rhombencephalon
1. The hindbrain
2. Gives rise to the metencephalon and the myelencephalon
Describe the Cephalic flexure
1. The midbrain flexure
2. Located between the prosencephalon and the rhombencephalon
Describe the cervical flexure
Located between the rhombencephalon