16 0
Clinical notes
CASE REPORT Mother. A primigravida developed overt hypothyroidism during pregnancy and at term gave birth to a baby who was admitted at five days of age with hyperthyroidism. There was no family history of thyroid disease; the mother had never had symptoms or signs of hyperthyroidism. She had had a tracheostomy done in infancy leaving her with scarred cervical fascia and skin over her thyroid. During the latter two months of pregnancy she was treated with 0.2 mg L-thyroxine daily. Five days postpartum, after being off treatment for one week, her serum thyroxine (T4) concentration was 5.4 /~g/dl (normal 4.5 to 11.5 ug/dl); tri-iodothyronine uptake (RT~U) 22% (normal 25 t o 35%); thyroid-stimulating hormone (TSH), 40/~U/ml (normal 1 to 10 #U/ml); serum antithyroglubulin antibodies by tanned red cell agglutination were negative. She was again treated with 0.2 mg L-thyroxine/day for 10 months and then for the purpose of re-evaluation, changed to Cytomel, 50 /~g/day for 4 weeks followed by 10 days without medication before testing. T~ was 0.8 /~g/dl; RT3U, 24.5%; T3 by radioimmunoassay, 25 ng/dl (normal 110 to 230 ng/dl); TSH, 136 t~U/ml; and a pertechnetate scan showed that her thyroid gland was represented by two small areas of low uptake. Infant. At five days of age the baby appeared emaciated, with tachycardia, tachypnea, subcostal retraction, hepatosplenomegaly, hypotonia and prominent eyes. The bone age was estimated at three months and thyroid function tests confirmed hyperthyroidism: T~, 34.5 /~g/dl (normal 8.6 to 17.1 /~g/dl); RT3U , 45% (normal 22 to 32%). Treatment was commenced with propranolol, Lugol's iodine, propylthiouracil and Lanoxin. At seven months of age treatment was discontinued without recurrence of the hyperthyroidism. At 13 days postpartum, the mother's serum was positive for LATS, whereas the infants serum was negative, and at seven months of age, assay of TSIg by a TSH displacement assay 2 showed the mother's serum to be positive (45% displacement of 12H-TSH from human thyroid membrane) and the infant's serum negative. The parents were counseled regarding the likelihood of thyrotoxieosis in subsequent progeny.
DISCUSSION Serum from the hypothyroid mother of this thyrotoxic infant contained thyroid-stimulating globulins although she had never had hyperthyroidism or exophthalmos. This phenomenon could be explained by the presence of immunologic components of both Graves disease and Hashimoto thyroiditis although antithyroglobulin antibodies were not detected by us. It is possible that trauma to the maternal thyroid gland during tracheostomy in infancy could have resulted in release of excessive antigenic material and initiated the autoimmune thyroid disease, but for this to occur, a complex, specific, and inherent defect in immune surveillance would probably exist allowing the expression of "forbidden" clones of lymphocytes which produce thyroidstimulating immunoglobulins? Other reports have described thyrotoxic infants born to euthyroid mothers, ~ a circumstance which may also indicate Graves disease without hyperthyroidism in the mother due to limited thyroid reserve? We acknowledge the assistance of Dr. Robert Volpe, F.R.C.P.(C)., the Wellesley Hospital, Toronto, for,conducting the TSIg assays. The study was also supported in part by~a Grant (RR-62) from the General Clinical Research Centers Program of
The Journal of Pediatrics January 1978
the Division of Research Resources, National Institutes of Health. Piers R. Blackett, M.B., Ch.B. J. Rodman Seely, M.D., Ph.D. Dale H. Altmiller, Ph.D. Department of Pediatrics & Pathology Oklahoma Children's Memorial Hospital and Clinical Research Center University of Oklahoma Health Sciences Center Oklahoma City, OK 73190 REFERENCES
1. McKenzie JM: Neonatal Graves' disease, J Clin Endocrinol 24:660, 1964. 2. Mukhtar ED, Smith BR, Pyle GA, Hall R, and Vice P: Relation of thyroid stimulating immunoglobulins to thyroid function and effects of surgery, radioiodine, and antithyroid drugs, Lancet 1:713, 1975. 3. Volp6 R: The role of autoimmunity in hypoendocrine and hyperend0crine function with special emphasis on autoimmune thyroid disease, Ann Intern Med 87:86, 1977. 4. Hollingsworth DR, Mabry CC, and Ecker JM: Hereditary aspects of Graves' disease in infancy and childhood. J P~DIATR, 81:446, 1972. 5. Liddle GW, Heyssel RM, and McKenzie JM: Graves' disease without hyperthyroidism, Am J Med 39:845, 1965.
Association of Crohn disease and Turner syndrome In 1973, Weinreib and associates 1 reported two adolescents with Crohn disease who were found also to have the Turner syndrome. The patient described below represents a further example of this association. CASE REPORT
When this woman was 16 years of age a karyotype of 45X0 (Turner syndrome) was determined during an investigation of primary amenorrhea. Physical findings included mild bilateral proptosis, short stature (138 cm), and slight cubitus valgus. Notably absent were webbed neck, shield chest, low hairline, or pigmented skin lesions. At 17 years of age she was admitted with the signs and symptoms of an acute abdomen. At operation a segment of inflamed and thickened ileum was found. Episodes of abdominal pain and diarrhea recurred frequently. One year after the operation, pneumaturia and the appearance of a fistula in the abdominal incision led to hospitalization. After one month of total parenteral nutrition, the segment of involved ileum and a fistulous tract connecting ileum and bladder were surgically removed. Streak gonads and a small uterus were seen. Pathologic examination of the specimen revealed changes typical of Crohn disease, The patient's breasts have developed and menstrual flow has occurred on treatment with estrogen (Premarin) orally.
Volume 92 Number 1
Clinical notes
16 1
COMMENT In the three reported children with Crohn disease and Turner syndrome, few stigmata o f gonadal dysgenesis were present and in each case the patient had been examined by a number of physicians before the onset of Crohn disease. Because growth retardation and delayed sexual maturation are characteristic manifestations o f both illnesses, inappropriate therapeutic decisions may result if the coexistence of the two entities is not recognized. The incidence of the Turner syndrome is 1:5,4002; the estimated incidence of Crohn disease is 1:50,000. 3 The chance of coincidence in three cases would be one in 810 million. The pathophysiologic relationship between these two entities remains unknown. Physicians caring for adolescents should also be aware o f the association of Turner syndrome and anorexia nervosa, 4 a combination with potential for similar diagnostic and therapeutic confusion. Intestinal telangiectasia ~ and giant cell hepatitis 6 are additional gastrointestinal lesions which occur with increased frequency in gonadal dysgenesis. James P. Keating, M.D. Jessie L. Ternberg, M.D. Robert Packman, M.D. Washington University School of Medicine St. Louis Children's Hospital 500 S. Kingshighway St. Louis, MO 63110 REFERENCES 1. Weinrieb IJ, Fineman RM, and Spiro HM: Turner's syndrome and inflammatory bowel disease, N Engl J Med 294:1221, 1976. 2. Opitz JM: Turner's syndrome; in Bergsma D., editor: Birth defects, atlas and compendium, 1973, The National Foundation. 3. Monk M, Mendelofl" AI, Siegel CI, and Lilienfeld A: An epidemiological study of ulcerative colitis and regional anteritis among adults in Baltimore, I. Hospital incidence and prevalence, 1960-63, Gastroenterology 55:397, 1968. 4. Kron L, Katz JL, Gorzrynski G, and Weiner H: Anorexia nervosa and gonadal dysgenesis, Arch Gen Psychiatry 34:332, 1977. 5. Lisser H, Curtis LE, Escamilla RF, and Goldberg MB: The syndrome of congenitally aplastic ovaries with sexual infantilism, high urinary gonadotropins, short stature and other congenital abnormalities, J Clin Endocrinol 7:665, 1947. 6. Gardner LI: Intrahepatic bile stasis in 45X Turner's syndrome, N Engl J Med 290:406, 1974.
A complication of tracheal intubation: Distal kinking of the tube The use of soft polyvinyl chloride straight endotracheal tubes (Portex) is widespread for neonatal resuscitation and long-term infant ventilation. Although these generally do not require a
a
~..J'J Fig. 1. Left, Simulation of tube position as it probably appeared in trachea. Right, Residual kink in endotracheal tube following withdrawal. stylet for insertion, many physicians resort to the use of a stylet for difficult intubations. The following cases present a complication associated with the use of a stylet during intubation with straight polyvinyl chloride tubes. CASE REPORTS Case 1. Patient N.F. was a 2,350 gm female infant born at 38 weeks' gestation by cesarean section. The infant was treated initially with continuous positive airway pressure and oxygen for mild respiratory distress syndrome. At 18 hours o f age, she deteriorated suddenly while being weighed. After several unsuccessful attempts at endotracheal intubation, a 3 mm Portex tube was placed with the aid of a metal styler. Breath sounds were noted to be present but decreased bilaterally. Because the infant was unresponsive to resuscitation, both sides of the chest were aspirated with no recovery o f air. Continued efforts at resuscitation were unsuccessful. Removal of the endotracheal tube postmortem revealed a kink at the level o f the distal side hole. Case 2. Patient M.M. was a 1,600 gm male, appropriate size for gestational age, treated for hyaline membrane disease and group B beta hemolytic streptococcal septicemia. Because of clinical deterioration, the infant was intubated with a 3 mm Portex tube. Intubation was difficult, and a stylet was used. Decreased breath sounds were noted bilaterally and the infant's condition deteriorated. Withdrawal of the tube was difficult and was associated with bleeding from the larynx. A kink was noted at the level of the distal side hole. The infant was reintubated and eventually was discharged in apparent good health. DISCUSSION Kinking of soft polyvinyl chloride endotracheal tubes is not an uncommon occurrence, particularly with tubes of small diameter.
Clinical notes
CASE REPORT Mother. A primigravida developed overt hypothyroidism during pregnancy and at term gave birth to a baby who was admitted at five days of age with hyperthyroidism. There was no family history of thyroid disease; the mother had never had symptoms or signs of hyperthyroidism. She had had a tracheostomy done in infancy leaving her with scarred cervical fascia and skin over her thyroid. During the latter two months of pregnancy she was treated with 0.2 mg L-thyroxine daily. Five days postpartum, after being off treatment for one week, her serum thyroxine (T4) concentration was 5.4 /~g/dl (normal 4.5 to 11.5 ug/dl); tri-iodothyronine uptake (RT~U) 22% (normal 25 t o 35%); thyroid-stimulating hormone (TSH), 40/~U/ml (normal 1 to 10 #U/ml); serum antithyroglubulin antibodies by tanned red cell agglutination were negative. She was again treated with 0.2 mg L-thyroxine/day for 10 months and then for the purpose of re-evaluation, changed to Cytomel, 50 /~g/day for 4 weeks followed by 10 days without medication before testing. T~ was 0.8 /~g/dl; RT3U, 24.5%; T3 by radioimmunoassay, 25 ng/dl (normal 110 to 230 ng/dl); TSH, 136 t~U/ml; and a pertechnetate scan showed that her thyroid gland was represented by two small areas of low uptake. Infant. At five days of age the baby appeared emaciated, with tachycardia, tachypnea, subcostal retraction, hepatosplenomegaly, hypotonia and prominent eyes. The bone age was estimated at three months and thyroid function tests confirmed hyperthyroidism: T~, 34.5 /~g/dl (normal 8.6 to 17.1 /~g/dl); RT3U , 45% (normal 22 to 32%). Treatment was commenced with propranolol, Lugol's iodine, propylthiouracil and Lanoxin. At seven months of age treatment was discontinued without recurrence of the hyperthyroidism. At 13 days postpartum, the mother's serum was positive for LATS, whereas the infants serum was negative, and at seven months of age, assay of TSIg by a TSH displacement assay 2 showed the mother's serum to be positive (45% displacement of 12H-TSH from human thyroid membrane) and the infant's serum negative. The parents were counseled regarding the likelihood of thyrotoxieosis in subsequent progeny.
DISCUSSION Serum from the hypothyroid mother of this thyrotoxic infant contained thyroid-stimulating globulins although she had never had hyperthyroidism or exophthalmos. This phenomenon could be explained by the presence of immunologic components of both Graves disease and Hashimoto thyroiditis although antithyroglobulin antibodies were not detected by us. It is possible that trauma to the maternal thyroid gland during tracheostomy in infancy could have resulted in release of excessive antigenic material and initiated the autoimmune thyroid disease, but for this to occur, a complex, specific, and inherent defect in immune surveillance would probably exist allowing the expression of "forbidden" clones of lymphocytes which produce thyroidstimulating immunoglobulins? Other reports have described thyrotoxic infants born to euthyroid mothers, ~ a circumstance which may also indicate Graves disease without hyperthyroidism in the mother due to limited thyroid reserve? We acknowledge the assistance of Dr. Robert Volpe, F.R.C.P.(C)., the Wellesley Hospital, Toronto, for,conducting the TSIg assays. The study was also supported in part by~a Grant (RR-62) from the General Clinical Research Centers Program of
The Journal of Pediatrics January 1978
the Division of Research Resources, National Institutes of Health. Piers R. Blackett, M.B., Ch.B. J. Rodman Seely, M.D., Ph.D. Dale H. Altmiller, Ph.D. Department of Pediatrics & Pathology Oklahoma Children's Memorial Hospital and Clinical Research Center University of Oklahoma Health Sciences Center Oklahoma City, OK 73190 REFERENCES
1. McKenzie JM: Neonatal Graves' disease, J Clin Endocrinol 24:660, 1964. 2. Mukhtar ED, Smith BR, Pyle GA, Hall R, and Vice P: Relation of thyroid stimulating immunoglobulins to thyroid function and effects of surgery, radioiodine, and antithyroid drugs, Lancet 1:713, 1975. 3. Volp6 R: The role of autoimmunity in hypoendocrine and hyperend0crine function with special emphasis on autoimmune thyroid disease, Ann Intern Med 87:86, 1977. 4. Hollingsworth DR, Mabry CC, and Ecker JM: Hereditary aspects of Graves' disease in infancy and childhood. J P~DIATR, 81:446, 1972. 5. Liddle GW, Heyssel RM, and McKenzie JM: Graves' disease without hyperthyroidism, Am J Med 39:845, 1965.
Association of Crohn disease and Turner syndrome In 1973, Weinreib and associates 1 reported two adolescents with Crohn disease who were found also to have the Turner syndrome. The patient described below represents a further example of this association. CASE REPORT
When this woman was 16 years of age a karyotype of 45X0 (Turner syndrome) was determined during an investigation of primary amenorrhea. Physical findings included mild bilateral proptosis, short stature (138 cm), and slight cubitus valgus. Notably absent were webbed neck, shield chest, low hairline, or pigmented skin lesions. At 17 years of age she was admitted with the signs and symptoms of an acute abdomen. At operation a segment of inflamed and thickened ileum was found. Episodes of abdominal pain and diarrhea recurred frequently. One year after the operation, pneumaturia and the appearance of a fistula in the abdominal incision led to hospitalization. After one month of total parenteral nutrition, the segment of involved ileum and a fistulous tract connecting ileum and bladder were surgically removed. Streak gonads and a small uterus were seen. Pathologic examination of the specimen revealed changes typical of Crohn disease, The patient's breasts have developed and menstrual flow has occurred on treatment with estrogen (Premarin) orally.
Volume 92 Number 1
Clinical notes
16 1
COMMENT In the three reported children with Crohn disease and Turner syndrome, few stigmata o f gonadal dysgenesis were present and in each case the patient had been examined by a number of physicians before the onset of Crohn disease. Because growth retardation and delayed sexual maturation are characteristic manifestations o f both illnesses, inappropriate therapeutic decisions may result if the coexistence of the two entities is not recognized. The incidence of the Turner syndrome is 1:5,4002; the estimated incidence of Crohn disease is 1:50,000. 3 The chance of coincidence in three cases would be one in 810 million. The pathophysiologic relationship between these two entities remains unknown. Physicians caring for adolescents should also be aware o f the association of Turner syndrome and anorexia nervosa, 4 a combination with potential for similar diagnostic and therapeutic confusion. Intestinal telangiectasia ~ and giant cell hepatitis 6 are additional gastrointestinal lesions which occur with increased frequency in gonadal dysgenesis. James P. Keating, M.D. Jessie L. Ternberg, M.D. Robert Packman, M.D. Washington University School of Medicine St. Louis Children's Hospital 500 S. Kingshighway St. Louis, MO 63110 REFERENCES 1. Weinrieb IJ, Fineman RM, and Spiro HM: Turner's syndrome and inflammatory bowel disease, N Engl J Med 294:1221, 1976. 2. Opitz JM: Turner's syndrome; in Bergsma D., editor: Birth defects, atlas and compendium, 1973, The National Foundation. 3. Monk M, Mendelofl" AI, Siegel CI, and Lilienfeld A: An epidemiological study of ulcerative colitis and regional anteritis among adults in Baltimore, I. Hospital incidence and prevalence, 1960-63, Gastroenterology 55:397, 1968. 4. Kron L, Katz JL, Gorzrynski G, and Weiner H: Anorexia nervosa and gonadal dysgenesis, Arch Gen Psychiatry 34:332, 1977. 5. Lisser H, Curtis LE, Escamilla RF, and Goldberg MB: The syndrome of congenitally aplastic ovaries with sexual infantilism, high urinary gonadotropins, short stature and other congenital abnormalities, J Clin Endocrinol 7:665, 1947. 6. Gardner LI: Intrahepatic bile stasis in 45X Turner's syndrome, N Engl J Med 290:406, 1974.
A complication of tracheal intubation: Distal kinking of the tube The use of soft polyvinyl chloride straight endotracheal tubes (Portex) is widespread for neonatal resuscitation and long-term infant ventilation. Although these generally do not require a
a
~..J'J Fig. 1. Left, Simulation of tube position as it probably appeared in trachea. Right, Residual kink in endotracheal tube following withdrawal. stylet for insertion, many physicians resort to the use of a stylet for difficult intubations. The following cases present a complication associated with the use of a stylet during intubation with straight polyvinyl chloride tubes. CASE REPORTS Case 1. Patient N.F. was a 2,350 gm female infant born at 38 weeks' gestation by cesarean section. The infant was treated initially with continuous positive airway pressure and oxygen for mild respiratory distress syndrome. At 18 hours o f age, she deteriorated suddenly while being weighed. After several unsuccessful attempts at endotracheal intubation, a 3 mm Portex tube was placed with the aid of a metal styler. Breath sounds were noted to be present but decreased bilaterally. Because the infant was unresponsive to resuscitation, both sides of the chest were aspirated with no recovery o f air. Continued efforts at resuscitation were unsuccessful. Removal of the endotracheal tube postmortem revealed a kink at the level o f the distal side hole. Case 2. Patient M.M. was a 1,600 gm male, appropriate size for gestational age, treated for hyaline membrane disease and group B beta hemolytic streptococcal septicemia. Because of clinical deterioration, the infant was intubated with a 3 mm Portex tube. Intubation was difficult, and a stylet was used. Decreased breath sounds were noted bilaterally and the infant's condition deteriorated. Withdrawal of the tube was difficult and was associated with bleeding from the larynx. A kink was noted at the level of the distal side hole. The infant was reintubated and eventually was discharged in apparent good health. DISCUSSION Kinking of soft polyvinyl chloride endotracheal tubes is not an uncommon occurrence, particularly with tubes of small diameter.
