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September 1970, Vol 120, No. 3 >
Article | September 1970

Endocrine Manifestations of Neurofibromatosis in Children FREE

Krishna M. Saxena, MD
[+] Author Affiliations

Received for publication Feb 10, 1970.

Reprint requests to Children's Hospital, 311 Pleasant Ave, St. Paul 55102 (Dr. Saxena).


Am J Dis Child. 1970;120(3):265-271. doi:10.1001/archpedi.1970.02100080149020.
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References
Comments

Endocrine manifestations of neurofibromatosis have been reported in five children, and the literature has been reviewed. Children often show disorders of sexual development and growth, while pheochromocytoma is the commonest endocrine association in adults. Precocious sex development was noted in three children. Two other girls presented with marked retardation of growth. One of them had retarded sex development in association with anorexia nervosa. It has been emphasized that such manifestations may frequently be the presenting features of neurofibromatosis in children.

REFERENCES

1 +
von Recklinghausen F: Ueber die Multiplen Fibroma der Haut und ihre Beziehung zu den Multiplen Neuromen: Festschrift für Rudolf Virchow . Berlin, Hirschwald, 1882;.
2 +
Whitehouse D:  Diagnostic value of café-aulait spot in children . Arch Dis Child 41:316-319, 1966;.
3 +
van der Werff ten Bosch JJ: Isosexual Precocity in Endocrine and Genetic Diseases of Childhood . LI Gardner (ed), WB Saunders Co, 1969;.
4 +
Sigurjonsdottir TJ, Hayles AB:  Precocious puberty: A report of 96 cases . Amer J Dis Child 115:309-322, 1968;.
5 +
Brady WJ:  Brain stem gliomas causing hydrocephalous in twins with von Recklinghausen's disease . J Neuropath Exp Neurol 21:555-565,1962;.
6 +
Ford F: Diseases of the Nervous System in Infancy, Childhood, and Adolescence , ed 4. Springfield, Ill, Charles C Thomas Publisher, 1960;.
7 +
Aita JA:  Genetic aspects of tumors of the nervous system . Nebraska Med J 53:121-124, 1968;.
8 +
Davis FA:  Primary tumors of the optic nerve (phenomenon of Recklinghausen's disease) . Arch Ophthal 23:735-757,1940;.
9 +
Crowe FM, Schull WJ, Neel JV: A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis . Springfield, Ill, Charles C Thomas Publisher, 1956;.
10 +
Meige H, Feindel E:  Infantiliome Myxoedemateux et Maladie de Recklinghausen . N Iconog Salpetriere 16:232-237,1903;.
11 +
Gordon MB:  An endocrine consideration of Recklinghausen's disease: Report of a case with associated childhood myxedema . Endocrinology 13:553-563,1929;.
12 +
Bruwer AJ, Kierland RR:  Neurofibromatosis and congenital unilateral pulsating and nonpulsating exophthalmos . Arch Ophthal 53:1-12,1955;.
13 +
Burrows EH:  Bone changes in orbital neurofibromatosis . Brit J Radiol 36:549-561, 1963;.
14 +
Ruppert RD, Buerger LF, Chang WWL:  Pheochromocytoma, neurofibromatosis and thyroid carcinoma . Metabolism 15:537-541,1966;.
15 +
Williams ED, Pollock DJ:  Multiple mucosal neuromas with endocrine tumors: Syndrome allied to Recklinghausen's disease . J Path Bact 91:71-80,1966;.
16 +
Gorlin RJ, Sedano HO, Vickers RA, et al:  Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid—a syndrome . Cancer 22:293-300, 1968;.
17 +
Levene LJ:  Bone changes in neurofibromatosis . Arch Intern Med 103:570-580, 1959;.
18 +
Sotos J, Dodge PR, Muirhead D, et al:  Cerebral gigantism in childhood. A syndrome of excessively rapid growth with acromegalic features and a non-progressive neurologic disorder . New Eng J Med 271:109-116,1964;.
19 +
Christy NP:  Anorexia nervosa  in Beeson PB, McDermott W (eds): Text Book of Medicine . Philadelphia, WB Saunders Co, 1967;, pp 1273-1275.
20 +
Landon J, Greenwood FC, Stamp TCB, et al:  Plasma sugar, free fatty acid, cortisol and growth hormone response to insulin and comparison of this procedure with other tests of pituitary and adrenal function: II. In patients with hypothalmic or pituitary dysfunction or anorexia nervosa . J Clin Invest 45:437-449,1966;.
21 +
Levin B:  Neurofibromatosis: Clinical and roentgen manifestations . Radiology 71:48-58, 1958;.
22 +
McKeown F, Frazer MJL:  Neurofibromatosis with pathological fractures in the newborn . Arch Dis Child 36:340-343,1961;.
23 +
Petsche H, Radlinger C:  Ein Fall von Morbus Recklinghausen mit Ovarialaplasie und Pseudohermaphroditismus Masculinus Externus . Wien Z Nervenheilk 10:252-259, 1954;.
24 +
Crome L:  A case of central neurofibromatosis . Arch Dis Child 37:640-651,1962;.
25 +
Pearce J:  The central nervous system pathology in multiple neurofibromatosis . Neurology 17:691-697, 1967;.
26 +
Ghrist TD:  Gastrointestinal involvement in neurofibromatosis . Arch Intern Med 112:357-362,1963;.
27 +
Staple TW, McAlister WH, Anderson MS:  Plexiform neurofibromatosis of the colon simulating Hirschsprung's disease . Amer J Roentgen 91:840-845,1964;.
28 +
Russel JYW:  Neurofibromatosis: A bizzare disease . Brit J Surg 52:251-262,1965;.
29 +
Massaro D, Katz S, Matthews MJ, et al:  von Recklinghausen's neurofibromatosis associated with cystic lung disease . Amer J Med 38:233-240,1965;.
30 +
Davison LM:  Neurofibromatosis with diffuse interstitial pulmonary fibrosis and pheochromocytoma . Brit J Radiol 40:549-551, 1967;.
31 +
van Buskirk KE, Clark PK, Snoga JR, et al:  Neurofibroma of the bladder: Case report and review of the literature . J Urol 91:241-245, 1964;.
32 +
Gonzalez-Angulo A, Reyes HA:  Neurofibromatosis involving the lower urinary tract . J Urol 89:804-811,1963;.
33 +
Allibone EC, Illingworth RS, Wright T:  Neurofibromatosis (von Recklinghausen's disease) of the vertebral column . Arch Dis Child 35:153-158, 1960;.
34 +
Swann GF:  Pathogenesis of bone lesions in neurofibromatosis . Brit J Radiol 27:623-629, 1954;.
35 +
Halpern M, Currarino G:  Vascular lesions causing hypertension in neurofibromatosis . New Eng J Med 273:248-252,1965;.
36 +
Heard G:  Malignant disease in von Recklinghausen's neurofibromatosis . Proc Roy Soc Med 56:502-503,1963;.
37 +
Levin OL:  Recklinghausen's disease: Its relation to the endocrine system . Arch Derm 4:303-321,1921;.
38 +
Thannhauser SJ:  Neurofibromatosis (von Recklinghausen) and osteitis cystica localista et disseminata (von Recklinghausen) . Medicine 23:105-148, 1944;.
39 +
Glushien AS, Mansuy MM, Littman DS:  Pheochromocytoma: Its relationship to the neuro-cutaneous syndromes . Amer J Med 14:318-327,1953;.
40 +
Mascheter HC:  Pheochromocytoma, astrocytoma and neurofibromatosis in one patient . Brit Med J 2:1518,1963;.
41 +
Hayes DM, Spurr CL, Felts JH, et al:  von Recklinghausen's disease with massive intra-abdominal tumor and spontaneous hypoglycemia: Metabolic studies before and after perfusion of the abdominal cavity with nitrogen mustard . Metabolism 10:183-199,1961;.
42 +
Coskey R, Tranquada RE:  Insulinoma and multiple neurofibromatosis: Report of a case . Metabolism 13:312-218, 1964;.
43 +
Clark DH, Lumberton NC, Mathews WR:  Simultaneous occurrence of von Recklinghausen's neurofibromatosis and osteitis fibrosa cystica . Surgery 33:434-443,1953;.
44 +
Foukas M, Skouteris A:  Ueber das Zusammentreffen von Morbus Recklinghausen, Hyperparathyroidismus und Gravidität . Zbl Gynaek 88:999-1006,1966;.
45 +
Ormond AW:  A case of Recklinghausen's disease with acromegaly . Proc Roy Soc Med 13:124-126, 1920;.
46 +
Mallam E:  A case illustrating the association of von Recklinghausen's disease with derangement of internal secretion . Brit J Derm 34:239-241,1922;.
47 +
Piotti A:  Pubertas Praecox bei Tumor der regio Hypothalamica und Neurofibromatose Recklinghausen . Acta Endocr 10:66-88,1952;.
48 +
Shaw M, Barber HW:  Recklinghausen's disease with pituitary tumor . Brit J Derm 34:207-208, 1922;.
49 +
Kenny FM, Fetterman GH, Preeyasombat C:  Neurofibromatosis simulating a penis and labioscrotal gonads in a girl with von Recklinghausen's disease . Pediatrics 37:456-459, 1966;.
50 +
Haddad HM, Jones HW Jr:  Clitoral enlargement simulating pseudohermaphroditism . Amer J Dis Child 99:282-287, 1960;.
51 +
Kundson AG Jr, Amromin GD:  Neuroblastoma and ganglioneuroma in a child with multiple neurofibromatosis: Implications for the mutational origin of neuroblastoma . Cancer 19:1032-1037,1966;.
52 +
DeKlerk JN, Campbell WA:  Neurofibromatosis of the bladder . J Urol 72:1167-1173,1954;.
53 +
Labardini MM, Kallet HA, Cerny JC:  Urogenital neurofibromatosis simulating an intersex problem . J Urol 98:627-632, 1967;.
54 +
McDonnell CH:  Neurofibroma of bladder and prostate . Amer J Surg 34:90-93, 1936;.
55 +
Crout JR:  Pheochromocytoma . Pharm Rev 18:651-665, 1966;.
56 +
McCune DJ:  Osteitis fibrosa cystica: The case of a 9-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin, and hyperthyroidism . Amer J Dis Child 52:743-746, 1936;.
57 +
McCune DJ, Bruch H:  Idem with review of literature . Amer J Dis Child 54:806-848, 1937;.
58 +
Albright F, Butler AM, Hampton AO, et al:  Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: Report of 5 cases . New Eng J Med 216:727-746,1937;.
59 +
Watson GH:  Pulmonary stenosis, café-aulait spots and dull intelligence . Arch Dis Child 42:303-307,1967;.
60 +
Gorlin RJ, Anderson RC, Blaw M:  Multiple letigenes syndrome . Amer J Dis Child 117:652-662, 1969;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
von Recklinghausen F: Ueber die Multiplen Fibroma der Haut und ihre Beziehung zu den Multiplen Neuromen: Festschrift für Rudolf Virchow . Berlin, Hirschwald, 1882;.
2 +
Whitehouse D:  Diagnostic value of café-aulait spot in children . Arch Dis Child 41:316-319, 1966;.
3 +
van der Werff ten Bosch JJ: Isosexual Precocity in Endocrine and Genetic Diseases of Childhood . LI Gardner (ed), WB Saunders Co, 1969;.
4 +
Sigurjonsdottir TJ, Hayles AB:  Precocious puberty: A report of 96 cases . Amer J Dis Child 115:309-322, 1968;.
5 +
Brady WJ:  Brain stem gliomas causing hydrocephalous in twins with von Recklinghausen's disease . J Neuropath Exp Neurol 21:555-565,1962;.
6 +
Ford F: Diseases of the Nervous System in Infancy, Childhood, and Adolescence , ed 4. Springfield, Ill, Charles C Thomas Publisher, 1960;.
7 +
Aita JA:  Genetic aspects of tumors of the nervous system . Nebraska Med J 53:121-124, 1968;.
8 +
Davis FA:  Primary tumors of the optic nerve (phenomenon of Recklinghausen's disease) . Arch Ophthal 23:735-757,1940;.
9 +
Crowe FM, Schull WJ, Neel JV: A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis . Springfield, Ill, Charles C Thomas Publisher, 1956;.
10 +
Meige H, Feindel E:  Infantiliome Myxoedemateux et Maladie de Recklinghausen . N Iconog Salpetriere 16:232-237,1903;.
11 +
Gordon MB:  An endocrine consideration of Recklinghausen's disease: Report of a case with associated childhood myxedema . Endocrinology 13:553-563,1929;.
12 +
Bruwer AJ, Kierland RR:  Neurofibromatosis and congenital unilateral pulsating and nonpulsating exophthalmos . Arch Ophthal 53:1-12,1955;.
13 +
Burrows EH:  Bone changes in orbital neurofibromatosis . Brit J Radiol 36:549-561, 1963;.
14 +
Ruppert RD, Buerger LF, Chang WWL:  Pheochromocytoma, neurofibromatosis and thyroid carcinoma . Metabolism 15:537-541,1966;.
15 +
Williams ED, Pollock DJ:  Multiple mucosal neuromas with endocrine tumors: Syndrome allied to Recklinghausen's disease . J Path Bact 91:71-80,1966;.
16 +
Gorlin RJ, Sedano HO, Vickers RA, et al:  Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid—a syndrome . Cancer 22:293-300, 1968;.
17 +
Levene LJ:  Bone changes in neurofibromatosis . Arch Intern Med 103:570-580, 1959;.
18 +
Sotos J, Dodge PR, Muirhead D, et al:  Cerebral gigantism in childhood. A syndrome of excessively rapid growth with acromegalic features and a non-progressive neurologic disorder . New Eng J Med 271:109-116,1964;.
19 +
Christy NP:  Anorexia nervosa  in Beeson PB, McDermott W (eds): Text Book of Medicine . Philadelphia, WB Saunders Co, 1967;, pp 1273-1275.
20 +
Landon J, Greenwood FC, Stamp TCB, et al:  Plasma sugar, free fatty acid, cortisol and growth hormone response to insulin and comparison of this procedure with other tests of pituitary and adrenal function: II. In patients with hypothalmic or pituitary dysfunction or anorexia nervosa . J Clin Invest 45:437-449,1966;.
21 +
Levin B:  Neurofibromatosis: Clinical and roentgen manifestations . Radiology 71:48-58, 1958;.
22 +
McKeown F, Frazer MJL:  Neurofibromatosis with pathological fractures in the newborn . Arch Dis Child 36:340-343,1961;.
23 +
Petsche H, Radlinger C:  Ein Fall von Morbus Recklinghausen mit Ovarialaplasie und Pseudohermaphroditismus Masculinus Externus . Wien Z Nervenheilk 10:252-259, 1954;.
24 +
Crome L:  A case of central neurofibromatosis . Arch Dis Child 37:640-651,1962;.
25 +
Pearce J:  The central nervous system pathology in multiple neurofibromatosis . Neurology 17:691-697, 1967;.
26 +
Ghrist TD:  Gastrointestinal involvement in neurofibromatosis . Arch Intern Med 112:357-362,1963;.
27 +
Staple TW, McAlister WH, Anderson MS:  Plexiform neurofibromatosis of the colon simulating Hirschsprung's disease . Amer J Roentgen 91:840-845,1964;.
28 +
Russel JYW:  Neurofibromatosis: A bizzare disease . Brit J Surg 52:251-262,1965;.
29 +
Massaro D, Katz S, Matthews MJ, et al:  von Recklinghausen's neurofibromatosis associated with cystic lung disease . Amer J Med 38:233-240,1965;.
30 +
Davison LM:  Neurofibromatosis with diffuse interstitial pulmonary fibrosis and pheochromocytoma . Brit J Radiol 40:549-551, 1967;.
31 +
van Buskirk KE, Clark PK, Snoga JR, et al:  Neurofibroma of the bladder: Case report and review of the literature . J Urol 91:241-245, 1964;.
32 +
Gonzalez-Angulo A, Reyes HA:  Neurofibromatosis involving the lower urinary tract . J Urol 89:804-811,1963;.
33 +
Allibone EC, Illingworth RS, Wright T:  Neurofibromatosis (von Recklinghausen's disease) of the vertebral column . Arch Dis Child 35:153-158, 1960;.
34 +
Swann GF:  Pathogenesis of bone lesions in neurofibromatosis . Brit J Radiol 27:623-629, 1954;.
35 +
Halpern M, Currarino G:  Vascular lesions causing hypertension in neurofibromatosis . New Eng J Med 273:248-252,1965;.
36 +
Heard G:  Malignant disease in von Recklinghausen's neurofibromatosis . Proc Roy Soc Med 56:502-503,1963;.
37 +
Levin OL:  Recklinghausen's disease: Its relation to the endocrine system . Arch Derm 4:303-321,1921;.
38 +
Thannhauser SJ:  Neurofibromatosis (von Recklinghausen) and osteitis cystica localista et disseminata (von Recklinghausen) . Medicine 23:105-148, 1944;.
39 +
Glushien AS, Mansuy MM, Littman DS:  Pheochromocytoma: Its relationship to the neuro-cutaneous syndromes . Amer J Med 14:318-327,1953;.
40 +
Mascheter HC:  Pheochromocytoma, astrocytoma and neurofibromatosis in one patient . Brit Med J 2:1518,1963;.
41 +
Hayes DM, Spurr CL, Felts JH, et al:  von Recklinghausen's disease with massive intra-abdominal tumor and spontaneous hypoglycemia: Metabolic studies before and after perfusion of the abdominal cavity with nitrogen mustard . Metabolism 10:183-199,1961;.
42 +
Coskey R, Tranquada RE:  Insulinoma and multiple neurofibromatosis: Report of a case . Metabolism 13:312-218, 1964;.
43 +
Clark DH, Lumberton NC, Mathews WR:  Simultaneous occurrence of von Recklinghausen's neurofibromatosis and osteitis fibrosa cystica . Surgery 33:434-443,1953;.
44 +
Foukas M, Skouteris A:  Ueber das Zusammentreffen von Morbus Recklinghausen, Hyperparathyroidismus und Gravidität . Zbl Gynaek 88:999-1006,1966;.
45 +
Ormond AW:  A case of Recklinghausen's disease with acromegaly . Proc Roy Soc Med 13:124-126, 1920;.
46 +
Mallam E:  A case illustrating the association of von Recklinghausen's disease with derangement of internal secretion . Brit J Derm 34:239-241,1922;.
47 +
Piotti A:  Pubertas Praecox bei Tumor der regio Hypothalamica und Neurofibromatose Recklinghausen . Acta Endocr 10:66-88,1952;.
48 +
Shaw M, Barber HW:  Recklinghausen's disease with pituitary tumor . Brit J Derm 34:207-208, 1922;.
49 +
Kenny FM, Fetterman GH, Preeyasombat C:  Neurofibromatosis simulating a penis and labioscrotal gonads in a girl with von Recklinghausen's disease . Pediatrics 37:456-459, 1966;.
50 +
Haddad HM, Jones HW Jr:  Clitoral enlargement simulating pseudohermaphroditism . Amer J Dis Child 99:282-287, 1960;.
51 +
Kundson AG Jr, Amromin GD:  Neuroblastoma and ganglioneuroma in a child with multiple neurofibromatosis: Implications for the mutational origin of neuroblastoma . Cancer 19:1032-1037,1966;.
52 +
DeKlerk JN, Campbell WA:  Neurofibromatosis of the bladder . J Urol 72:1167-1173,1954;.
53 +
Labardini MM, Kallet HA, Cerny JC:  Urogenital neurofibromatosis simulating an intersex problem . J Urol 98:627-632, 1967;.
54 +
McDonnell CH:  Neurofibroma of bladder and prostate . Amer J Surg 34:90-93, 1936;.
55 +
Crout JR:  Pheochromocytoma . Pharm Rev 18:651-665, 1966;.
56 +
McCune DJ:  Osteitis fibrosa cystica: The case of a 9-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin, and hyperthyroidism . Amer J Dis Child 52:743-746, 1936;.
57 +
McCune DJ, Bruch H:  Idem with review of literature . Amer J Dis Child 54:806-848, 1937;.
58 +
Albright F, Butler AM, Hampton AO, et al:  Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: Report of 5 cases . New Eng J Med 216:727-746,1937;.
59 +
Watson GH:  Pulmonary stenosis, café-aulait spots and dull intelligence . Arch Dis Child 42:303-307,1967;.
60 +
Gorlin RJ, Anderson RC, Blaw M:  Multiple letigenes syndrome . Amer J Dis Child 117:652-662, 1969;.

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