- Email: [email protected]
Emergence of optic pathway gliomas in children with neurofibromatosis type 1 after normal neuroimaging results
584
Clinical and laboratory observations
parison with that of their siblings or with that of children with moderate CH. Further studies are needed to determine whether earlier treatment or higher initial doses of T4, or both, can normalize the eventual intellectual development of newborn infants with severe hypothyroidism. We thank A. B61and, PhD, for performing some of the intellectual evaluations.
The Journal of Pediatrics October 1992
5.
6.
7.
REFERENCES 1. Glorieux J, Desjardins M, Letarte J, Morissette J, Dussault JH. Useful parameters to predict the eventual mental outcome of hypothyroid children. Pediatr Res 1988;24:6-8. la. Griffiths R. The abilities of young children. Somerset, England: Young and Son, 1970. 2. Guyda HJ. Treatment of congenital hypothyroidism. In: Dussault JH, Walker P, eds. Congenital hypothyroidism. New York: Marcel Dekker, 1983:385-96. 3. Rovet J, Ehrlich R, Sorbara D. Intellectual outcome in children with fetal hypothyroidism. J P~OIATR1987; 110:700-4. 4. Lebecq MF. Glorieux J, Farriaux JP, Dussault J, Morissette J. l~tude comparative des r6sultats psychom6triques de 2 pop-
8. 9.
10.
ulations francophones d'enfants hypothyroidiens d6pist6s ~t la naissance. Arch Fr Pediatr 1990;47:581-4. Fuggle PW, Grant DB, Smith I, Murphy G. Intelligence, motor skills and behaviour at 5 years in early-treated congenital hypothyroidism. Eur J Pediatr 1991;150:570-4. New England Congenital Hypothyroidism Collaborative. Elementary school performance of children with congenital hypothyroidism. J PEDIATR 1990;116:27-32. Van Vliet G, Barboni T, Klees M, Cantraine F, Wolter R. Treatment strategy and long-term follow-up of congenital hypothyroidism. In: Delange F, Fisher DA, Glinoer D, eds. Research in congenital hypothyroidism. NATO Advanced Science Institute series, Series A [Life Sciences vol 161]. New York: Plenum Press, 1989:245-52. Fisher DA, Foley BL. Early treatment of congenital hypothyroidism. Pediatrics 1989;83:785-9. Rover JF, Ehrlich R, Sorbara DL. Effect of thyroid hormone level on temperament in infants with congenital hypothyroidism detected by screening of neonates. J PEDIATR 1989; 114:63-8. Heyerdahl S, Kase BF, Lie SO. Intellectual development in children with congenital hypothyroidism in ,relation to recommended thyroxine treatment. J PEDIATR 1991;118:850-7.
Emergence of optic pathway gliomas in children with neurofibromatosis type after normal neurolmaging results Robert Listernick, MD, Joel Charrow, MD, and Mark Greenwald, MD From the Departments of Pediatrics and Ophthalmology, Northwestern University Medical School, and the Divisions of General Academic and Emergency Pediatrics, Genetics, and Ophthalmology, Children's Memorial Hospital, Chicago, Illinois
We report the a p p e a r a n c e of g l i o m a s of the optic nerve or chiasm in four y o u n g children with neurofibromatosis type 4 whose previous n e u r o i m a g i n g studies s h o w e d no abnormalities; the a g e r a n g e of the children was 4 y e a r 8 months to 5 years 9 months at the time the tumors w e r e d e t e c t e d . Normal n e u r o i m a g i n g findings in an infant or y o u n g child with neurofibromatosis tyl~e 4 cloes not provide assurance that the optic nerves a n d chiasm will remain healthy. (J PEDIATR 4992;424:584-7)
Although optic gliornas account for only 2% to 5% of all brain tumors in childhood, as many as 70% of the cases are found in individuals with neurofibromatosis type 1.1 In a previous study, we identified optic pathway tumors by computed tomography in 15% of an unbiased sample of children
Submitted for publication Feb. 4, 1992; accepted April 29, 1992. Reprint requests: Robert Listernick, MD, Division of General Academic and Emergency Pediatrics, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614. 9/22/38972
with NF-1 at a mean age of 5.8 years. 2 Eighty percent of the children with tumors had no definite abnormality of vision at the time of diagnosis. CT MRI NF-1
Computed tomography Magnetic resonance imaging Neurofibromatosis type 1
[
Recent advances in neuroimaging have enabled physicians to detect optic pathway tumors and follow their natural history. This has led some investigators to advocate the use of neuroimaging studies to screen for optic gliomas in
Volume 121 Number 4
Clinical and laboratory observations
585
Table. P a t i e n t characteristics Age at initial neuroimaging (mo)
Age at abnormal findings (mo)
Results of second neuroimaging study
Symptoms at time of diagnosis of glioma
Optic chiasm glioma with extension to both optic nerves and tracts Left optic glioma with extension to chiasm and hypothalamus Right optic glioma with extension to chiasm and optic tracts
Growth spurt; increased testicular size
Vision 20/40 in left eye; decreased color vision bilaterally
Precocious puberty confirmed
Growth spurt; increased testieular size
Normal
Precocious puberty confirmed
Proptosis of right eye
Poor visual fixation right eye; right exotropia with afferent pupillary defect; right optic disc swollen Mild bilateral optic disc swelling; normal acuity
Receiving chemotherapy
Patient No.
Sex
Initial neuroimaging modality
1
M
MRI
11
61
2
M
CT
8
69
3
F
CT
3
20
4
M
CT
5
24
Bilateral optic nerve gliomas with chiasmal extension
None
Ophthalmologic examination at time of diagnosis of glioma
Comments
No progression of tumor 6 yr after diagnosis
children, once the diagnosis of N F-1 has been made. 2 However, if n e u r o i m a g i n g studies do not reveal an optic p a t h w a y glioma, t h e risk of later development of a t u m o r is uncertain and t h e need for subsequent studies is ill defined. To our knowledge t h e r e is no documentation in the literature of de novo a p p e a r a n c e of glioma in a child with previously normal n e u r o i m a g i n g findings. W e report four cases of optic p a t h w a y tumors in young children with NF-1 in whom previous neuroimaging findings h a d been normal.
months after a normal CT scan of the head and orbits; a massive intraorbital optic glloma with chiasmal extension was found (Figure). Patient 4 had infantile spasms at 5 months of age with an electroencephalographic pattern of hypsarrhythmia. Although the initial CT scan at 5 months of age was normal, a second CT scan at 24 months of age revealed bilateral optic nerve gliomas with chiasmal extension. These tumors have remained stable during a 6-year follow-up period as demonstrated by subsequent MRI studies.
CASE REPORTS
DISCUSSION
Details of the four cases are summarized in the Table. The mean age at diagnosis of the optic glioma was 43 months (range 20 to 69 months). The mean interval between the normal and abnormal neuroimaging findings was 37 months (range 17 to 61 months). All the patients had had normal findings on ophthalmologic examination within 1 year of the discovery of their optic pathway tumors by magnetic resonance imaging. Patients 1 and 2 were previously healthy boys with uncomplicated NF-1 in whom growth spurts alerted us to the presence of chiasmatic gliomas causing precocious puberty. The Figure illustrates the initial MRI of patient 1 at 11 months of age in which the optic nerves and chiasm appeared normal; however, MRI at 5 years of age showed marked enlargement of the optic chiasm and posterior optic tracts. Patient 3 had the rapid onset of proptosis 17
The four cases described here represent the appearance of an optic pathway glioma in a previously healthy optic nerve or chiasm, as d e m o n s t r a t e d by neuroimaging studies. The m e a n age of the patients at the time of diagnosis of the t u m o r was 3.6 years, considerably younger t h a n the m e a n age of 5.8 years in our previous study. 2 This reflects the early diagnosis of N F - 1 during the first year of life in all four patients, enabling us to follow them prospectively. T h e advent of improved n e u r o i m a g i n g with C T and M R I has enabled physicians to detect a n d follow the growth of optic nerve gliomas. C o m p u t e d t o m o g r a p h y scans are limited in their ability to evaluate the spread of t u m o r to the intracanalicular portion of t h e optic nerve, the optic chiasm,
586
Clinical and laboratory observations
The Journal of Pediatrics October 1992
Figure. A, Initial MRI of patient 1 at 11 months of age. Optic chiasm and optidtracts appear normal (arrows). B, MRI scan of patient 1 at 5 years of age. There is marked enlargement of optic chiasm (asterisks) and optic tracts posteriorly with some contrast enhancement. C, Initial CT scan of patient 3 at 3 months of age. Optic nerves appear normal (arrows). D, MRI scan of patient 3 at 20 months of age. There is massive enlargement of optic nerve with marked contrast enhancement (asterisks). The globe is proptotic. There is a large lobulated mass with contrast enhancement involving optic chiasm (arrow).
and the posterior optic pathways. Magnetic resonance imaging furnishes excellent images of these areas without the use of ionizing radiation, makingi~t better suited for use in serial examinations. 3 In addition, M R I can more sensitively define the boundaries of tumors and any surrounding edema. Because patients 2, 3, and 4 had C T scans for their initial neuroimaging studies, our sensitivity in detecting early lesions may not have been as great as if M R I had been available. Logical guidelines for the examination and long-term
Care'of patients with NF-1 are needed. A National Institutes of Health Consensus Development Conference recommended against performing routine screening neuroimaging studies in patients with asymptomatic NF-1. 4 However, we previously identified optic gliomas in 15% of an unselected population of children with N F-1, only 20% of whom had abnormalities o f vision detected on detailed ophthalmologic examination at the time of diagnosis. 2 This led us to recommend that screening neuroimaging studies be performed on initial examination of all patients with NF-1
Volume 121 Number 4
seen in a multidisciplinary NF-1 clinic. 1 We believe that if an asymptomatic optic glioma is identified by neuroimaging, follow-up ophthalmologic examinations and neuroimaging studies should be performed at regular intervals. This may permit early institution of therapy if progression is documented. Subsequent management choices are less clear if the initial neuroimaging findings are normal. Our cases demonstrate that a symptomatic optic glioma can develop in a nerve that appears normal in the first year of life. Three of our patients had significant morbidity from their tumors: precocious puberty in patients 1 and 2, and unilateral proptosis with markedly reduced visual acuity in patient 3. In contrast, patient 4 retained normal vision after several years of observation, as do the majority of individuals with NF-1 in whom asymptomatic optic gliomas are diagnosed on CT or MRI. Repeated presymptomatic evaluations with neuroimaging studies at regular intervals might have permitted earlier diagnosis and perhaps avoidance of complications in patients 1, 2, and 3. Whether the cost of such an approach is justified on the basis of expected benefit can be determined only through analysis of longitudinal data gathered prospectively from a large cohort of patients. All four of our patients were younger than 6 years of age when their gliomas were detected. We have not encountered
Clinical and laboratory observations
58 7
a child older than 6 years of age who has had normal neuroimaging findings and has subsequently had a symptomatic optic pathway tumo r. We speculate from these limited data that the period of greatest risk for the development of rapidly progressive tumors is during the first 5 years of life. Our observations support the view that optic pathway glioma in NF-1 is an acquired lesion. Normal neuroimaging findings in an infant or young child do not provide assurance that the optic nerves and chiasm will remain healthy. It remains to be determined whether, in what circumstances, and at what ages or intervals repeated neuroimaging studies should be recommended for such a patient in the absence of symptoms or of abnormalities on physical examination. REFERENCES 1. Listernick R, Charrow J. Neurofibromatosis type 1 in childhood. J PEDIATR1990;116:845-53. 2. Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with neurofibromatosistype 1. J PEDIATR 1989;114:788-92. 3. Haik BG, Saint Louis L, Bierly J, et al. Magnetic resonance imaging in the evaluation of optic nerve gliomas. Ophthalmology 1987;94:709-17. 4. National Institutes of Health. Neurofibromatosis. National Institutes of Health ConsensusDevelopmentConferenceStatement. Bethesda, Maryland: The Institute, 1987:6.
Marrow transplantation for thrombocytopeniaabsent radii syndrome Joel A. Brochstein, MD,* Brenda Shank, MD, PhD,** Nancy A. Kernan, MD, Jerry W. Terwilliger, MD, and Richard J. O'Reilly, MD From the Charles A. Dana Marrow Transplant Unit, Marrow Transplant service, the Departments of Pediatrics and Radiation Oncology, Memorial Stoan-Kettering Cancer Center, New York, and the Guthrie Clinic, Sayre, Pennsylvania
A two-year-old girl with thrombocytopenia-absent radii syndrome underwent transplantation of allogeneic bone marrow from her histocompatible sibling to correct her persistently low platelet count. Six years after transplantation, she has durable engraftment of allogeneic marrow and a normal platelet count that will allow her to undergo necessary corrective orthopedic procedures. (J PEDIATR t992;12t:587-9)
Supported in part by U.S. Public Health Service grant No. CA23766, awarded by the National Cancer Institute, and by the Charles A. Dana Foundation, Zelda Radow Weintraub Cancer Fund, Judith Harris Selig Memorial Fund, Robert J. Kleberg Jr. and Helen C. Kleberg Foundation, International Paper Company Foundation Fund, Henry and Lucy Moses Fund, Inc., Frito-Lay/ New York Yankees Challenge Fund, Lila Acheson and Dewitt Wallace Fund, Frances Knecht New Hope Chapter, and the Glenn Edward Fletcher Foundation.
Submitted for publication Feb. 14, 1992; accepted April 29, 1992. Reprint requests: Joel A. Brochstein, MD, Bone Marrow Transplant Program, Haekensack Medical Center, 30 Prospect Ave., Hackensaek, NJ 07601. *Now at Hackensack Medical Center, Hackensack, N.J. **Now at Mount Sinai Medical Center, New York, N.Y. 9/22/38973
Clinical and laboratory observations
parison with that of their siblings or with that of children with moderate CH. Further studies are needed to determine whether earlier treatment or higher initial doses of T4, or both, can normalize the eventual intellectual development of newborn infants with severe hypothyroidism. We thank A. B61and, PhD, for performing some of the intellectual evaluations.
The Journal of Pediatrics October 1992
5.
6.
7.
REFERENCES 1. Glorieux J, Desjardins M, Letarte J, Morissette J, Dussault JH. Useful parameters to predict the eventual mental outcome of hypothyroid children. Pediatr Res 1988;24:6-8. la. Griffiths R. The abilities of young children. Somerset, England: Young and Son, 1970. 2. Guyda HJ. Treatment of congenital hypothyroidism. In: Dussault JH, Walker P, eds. Congenital hypothyroidism. New York: Marcel Dekker, 1983:385-96. 3. Rovet J, Ehrlich R, Sorbara D. Intellectual outcome in children with fetal hypothyroidism. J P~OIATR1987; 110:700-4. 4. Lebecq MF. Glorieux J, Farriaux JP, Dussault J, Morissette J. l~tude comparative des r6sultats psychom6triques de 2 pop-
8. 9.
10.
ulations francophones d'enfants hypothyroidiens d6pist6s ~t la naissance. Arch Fr Pediatr 1990;47:581-4. Fuggle PW, Grant DB, Smith I, Murphy G. Intelligence, motor skills and behaviour at 5 years in early-treated congenital hypothyroidism. Eur J Pediatr 1991;150:570-4. New England Congenital Hypothyroidism Collaborative. Elementary school performance of children with congenital hypothyroidism. J PEDIATR 1990;116:27-32. Van Vliet G, Barboni T, Klees M, Cantraine F, Wolter R. Treatment strategy and long-term follow-up of congenital hypothyroidism. In: Delange F, Fisher DA, Glinoer D, eds. Research in congenital hypothyroidism. NATO Advanced Science Institute series, Series A [Life Sciences vol 161]. New York: Plenum Press, 1989:245-52. Fisher DA, Foley BL. Early treatment of congenital hypothyroidism. Pediatrics 1989;83:785-9. Rover JF, Ehrlich R, Sorbara DL. Effect of thyroid hormone level on temperament in infants with congenital hypothyroidism detected by screening of neonates. J PEDIATR 1989; 114:63-8. Heyerdahl S, Kase BF, Lie SO. Intellectual development in children with congenital hypothyroidism in ,relation to recommended thyroxine treatment. J PEDIATR 1991;118:850-7.
Emergence of optic pathway gliomas in children with neurofibromatosis type after normal neurolmaging results Robert Listernick, MD, Joel Charrow, MD, and Mark Greenwald, MD From the Departments of Pediatrics and Ophthalmology, Northwestern University Medical School, and the Divisions of General Academic and Emergency Pediatrics, Genetics, and Ophthalmology, Children's Memorial Hospital, Chicago, Illinois
We report the a p p e a r a n c e of g l i o m a s of the optic nerve or chiasm in four y o u n g children with neurofibromatosis type 4 whose previous n e u r o i m a g i n g studies s h o w e d no abnormalities; the a g e r a n g e of the children was 4 y e a r 8 months to 5 years 9 months at the time the tumors w e r e d e t e c t e d . Normal n e u r o i m a g i n g findings in an infant or y o u n g child with neurofibromatosis tyl~e 4 cloes not provide assurance that the optic nerves a n d chiasm will remain healthy. (J PEDIATR 4992;424:584-7)
Although optic gliornas account for only 2% to 5% of all brain tumors in childhood, as many as 70% of the cases are found in individuals with neurofibromatosis type 1.1 In a previous study, we identified optic pathway tumors by computed tomography in 15% of an unbiased sample of children
Submitted for publication Feb. 4, 1992; accepted April 29, 1992. Reprint requests: Robert Listernick, MD, Division of General Academic and Emergency Pediatrics, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614. 9/22/38972
with NF-1 at a mean age of 5.8 years. 2 Eighty percent of the children with tumors had no definite abnormality of vision at the time of diagnosis. CT MRI NF-1
Computed tomography Magnetic resonance imaging Neurofibromatosis type 1
[
Recent advances in neuroimaging have enabled physicians to detect optic pathway tumors and follow their natural history. This has led some investigators to advocate the use of neuroimaging studies to screen for optic gliomas in
Volume 121 Number 4
Clinical and laboratory observations
585
Table. P a t i e n t characteristics Age at initial neuroimaging (mo)
Age at abnormal findings (mo)
Results of second neuroimaging study
Symptoms at time of diagnosis of glioma
Optic chiasm glioma with extension to both optic nerves and tracts Left optic glioma with extension to chiasm and hypothalamus Right optic glioma with extension to chiasm and optic tracts
Growth spurt; increased testicular size
Vision 20/40 in left eye; decreased color vision bilaterally
Precocious puberty confirmed
Growth spurt; increased testieular size
Normal
Precocious puberty confirmed
Proptosis of right eye
Poor visual fixation right eye; right exotropia with afferent pupillary defect; right optic disc swollen Mild bilateral optic disc swelling; normal acuity
Receiving chemotherapy
Patient No.
Sex
Initial neuroimaging modality
1
M
MRI
11
61
2
M
CT
8
69
3
F
CT
3
20
4
M
CT
5
24
Bilateral optic nerve gliomas with chiasmal extension
None
Ophthalmologic examination at time of diagnosis of glioma
Comments
No progression of tumor 6 yr after diagnosis
children, once the diagnosis of N F-1 has been made. 2 However, if n e u r o i m a g i n g studies do not reveal an optic p a t h w a y glioma, t h e risk of later development of a t u m o r is uncertain and t h e need for subsequent studies is ill defined. To our knowledge t h e r e is no documentation in the literature of de novo a p p e a r a n c e of glioma in a child with previously normal n e u r o i m a g i n g findings. W e report four cases of optic p a t h w a y tumors in young children with NF-1 in whom previous neuroimaging findings h a d been normal.
months after a normal CT scan of the head and orbits; a massive intraorbital optic glloma with chiasmal extension was found (Figure). Patient 4 had infantile spasms at 5 months of age with an electroencephalographic pattern of hypsarrhythmia. Although the initial CT scan at 5 months of age was normal, a second CT scan at 24 months of age revealed bilateral optic nerve gliomas with chiasmal extension. These tumors have remained stable during a 6-year follow-up period as demonstrated by subsequent MRI studies.
CASE REPORTS
DISCUSSION
Details of the four cases are summarized in the Table. The mean age at diagnosis of the optic glioma was 43 months (range 20 to 69 months). The mean interval between the normal and abnormal neuroimaging findings was 37 months (range 17 to 61 months). All the patients had had normal findings on ophthalmologic examination within 1 year of the discovery of their optic pathway tumors by magnetic resonance imaging. Patients 1 and 2 were previously healthy boys with uncomplicated NF-1 in whom growth spurts alerted us to the presence of chiasmatic gliomas causing precocious puberty. The Figure illustrates the initial MRI of patient 1 at 11 months of age in which the optic nerves and chiasm appeared normal; however, MRI at 5 years of age showed marked enlargement of the optic chiasm and posterior optic tracts. Patient 3 had the rapid onset of proptosis 17
The four cases described here represent the appearance of an optic pathway glioma in a previously healthy optic nerve or chiasm, as d e m o n s t r a t e d by neuroimaging studies. The m e a n age of the patients at the time of diagnosis of the t u m o r was 3.6 years, considerably younger t h a n the m e a n age of 5.8 years in our previous study. 2 This reflects the early diagnosis of N F - 1 during the first year of life in all four patients, enabling us to follow them prospectively. T h e advent of improved n e u r o i m a g i n g with C T and M R I has enabled physicians to detect a n d follow the growth of optic nerve gliomas. C o m p u t e d t o m o g r a p h y scans are limited in their ability to evaluate the spread of t u m o r to the intracanalicular portion of t h e optic nerve, the optic chiasm,
586
Clinical and laboratory observations
The Journal of Pediatrics October 1992
Figure. A, Initial MRI of patient 1 at 11 months of age. Optic chiasm and optidtracts appear normal (arrows). B, MRI scan of patient 1 at 5 years of age. There is marked enlargement of optic chiasm (asterisks) and optic tracts posteriorly with some contrast enhancement. C, Initial CT scan of patient 3 at 3 months of age. Optic nerves appear normal (arrows). D, MRI scan of patient 3 at 20 months of age. There is massive enlargement of optic nerve with marked contrast enhancement (asterisks). The globe is proptotic. There is a large lobulated mass with contrast enhancement involving optic chiasm (arrow).
and the posterior optic pathways. Magnetic resonance imaging furnishes excellent images of these areas without the use of ionizing radiation, makingi~t better suited for use in serial examinations. 3 In addition, M R I can more sensitively define the boundaries of tumors and any surrounding edema. Because patients 2, 3, and 4 had C T scans for their initial neuroimaging studies, our sensitivity in detecting early lesions may not have been as great as if M R I had been available. Logical guidelines for the examination and long-term
Care'of patients with NF-1 are needed. A National Institutes of Health Consensus Development Conference recommended against performing routine screening neuroimaging studies in patients with asymptomatic NF-1. 4 However, we previously identified optic gliomas in 15% of an unselected population of children with N F-1, only 20% of whom had abnormalities o f vision detected on detailed ophthalmologic examination at the time of diagnosis. 2 This led us to recommend that screening neuroimaging studies be performed on initial examination of all patients with NF-1
Volume 121 Number 4
seen in a multidisciplinary NF-1 clinic. 1 We believe that if an asymptomatic optic glioma is identified by neuroimaging, follow-up ophthalmologic examinations and neuroimaging studies should be performed at regular intervals. This may permit early institution of therapy if progression is documented. Subsequent management choices are less clear if the initial neuroimaging findings are normal. Our cases demonstrate that a symptomatic optic glioma can develop in a nerve that appears normal in the first year of life. Three of our patients had significant morbidity from their tumors: precocious puberty in patients 1 and 2, and unilateral proptosis with markedly reduced visual acuity in patient 3. In contrast, patient 4 retained normal vision after several years of observation, as do the majority of individuals with NF-1 in whom asymptomatic optic gliomas are diagnosed on CT or MRI. Repeated presymptomatic evaluations with neuroimaging studies at regular intervals might have permitted earlier diagnosis and perhaps avoidance of complications in patients 1, 2, and 3. Whether the cost of such an approach is justified on the basis of expected benefit can be determined only through analysis of longitudinal data gathered prospectively from a large cohort of patients. All four of our patients were younger than 6 years of age when their gliomas were detected. We have not encountered
Clinical and laboratory observations
58 7
a child older than 6 years of age who has had normal neuroimaging findings and has subsequently had a symptomatic optic pathway tumo r. We speculate from these limited data that the period of greatest risk for the development of rapidly progressive tumors is during the first 5 years of life. Our observations support the view that optic pathway glioma in NF-1 is an acquired lesion. Normal neuroimaging findings in an infant or young child do not provide assurance that the optic nerves and chiasm will remain healthy. It remains to be determined whether, in what circumstances, and at what ages or intervals repeated neuroimaging studies should be recommended for such a patient in the absence of symptoms or of abnormalities on physical examination. REFERENCES 1. Listernick R, Charrow J. Neurofibromatosis type 1 in childhood. J PEDIATR1990;116:845-53. 2. Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with neurofibromatosistype 1. J PEDIATR 1989;114:788-92. 3. Haik BG, Saint Louis L, Bierly J, et al. Magnetic resonance imaging in the evaluation of optic nerve gliomas. Ophthalmology 1987;94:709-17. 4. National Institutes of Health. Neurofibromatosis. National Institutes of Health ConsensusDevelopmentConferenceStatement. Bethesda, Maryland: The Institute, 1987:6.
Marrow transplantation for thrombocytopeniaabsent radii syndrome Joel A. Brochstein, MD,* Brenda Shank, MD, PhD,** Nancy A. Kernan, MD, Jerry W. Terwilliger, MD, and Richard J. O'Reilly, MD From the Charles A. Dana Marrow Transplant Unit, Marrow Transplant service, the Departments of Pediatrics and Radiation Oncology, Memorial Stoan-Kettering Cancer Center, New York, and the Guthrie Clinic, Sayre, Pennsylvania
A two-year-old girl with thrombocytopenia-absent radii syndrome underwent transplantation of allogeneic bone marrow from her histocompatible sibling to correct her persistently low platelet count. Six years after transplantation, she has durable engraftment of allogeneic marrow and a normal platelet count that will allow her to undergo necessary corrective orthopedic procedures. (J PEDIATR t992;12t:587-9)
Supported in part by U.S. Public Health Service grant No. CA23766, awarded by the National Cancer Institute, and by the Charles A. Dana Foundation, Zelda Radow Weintraub Cancer Fund, Judith Harris Selig Memorial Fund, Robert J. Kleberg Jr. and Helen C. Kleberg Foundation, International Paper Company Foundation Fund, Henry and Lucy Moses Fund, Inc., Frito-Lay/ New York Yankees Challenge Fund, Lila Acheson and Dewitt Wallace Fund, Frances Knecht New Hope Chapter, and the Glenn Edward Fletcher Foundation.
Submitted for publication Feb. 14, 1992; accepted April 29, 1992. Reprint requests: Joel A. Brochstein, MD, Bone Marrow Transplant Program, Haekensack Medical Center, 30 Prospect Ave., Hackensaek, NJ 07601. *Now at Hackensack Medical Center, Hackensack, N.J. **Now at Mount Sinai Medical Center, New York, N.Y. 9/22/38973